Assay Details

Gene Information

BHLHE41
	Accession	Protein	COSMIC ID	Mutation	AA
RefSeq	NM_030762.2	NP_110389.1	3359666	c.172G>A	p.D58N
			2202806	c.205G>T	p.D69Y
			5458358	c.127-1G>A	p.?
			2202808	c.167G>T	p.R56I
			1360972	c.157G>T	p.E53*
			938202	c.170G>A	p.R57K
			3720970	c.157G>A	p.E53K
			2202809	c.144G>A	p.P48P
			938203	c.146A>G	p.H49R
			7302938	c.158A>T	p.E53V
			7082210	c.201G>A	p.L67L
			329658	c.165_169delAAGAA	p.R57fs*3
GenBank	AB044088.1	BAB21502.1	-	-	-
	AK303677.1		-	-	-
	AY665467.1	AAV54602.1	-	-	-
	BC025968.1	AAH25968.1	-	-	-
	ENST00000242728.0		-	-	-

Phenotype

MIM: 606200

SSPN
	Accession	Protein	COSMIC ID	Mutation	AA
RefSeq	XM_011520853.2	XP_011519155.1	-	-	-

Phenotype

MIM: 601599

Literature Links:

BHLHE41 PubMed Links

SNP ID

rs5797164 rs765511964 rs950204724 rs887263202 rs992176487 rs915064486 rs370455858 rs931905067 rs991725273 rs771218727 rs527575305 rs755902755 rs778388881 rs1027744654 rs767352296 rs373921384 rs1871557 rs374038416 rs756068658 rs1014677678 rs765418587 rs1024511466 rs761238713 rs771686924 rs920233938 rs766852193 rs571805206 rs747354885 rs759636418 rs1008727296 rs914421147 rs751833997 rs763235651 rs777305928 rs572568172 rs112580893 rs1008675042 rs756941879 rs752987612 rs538519595 rs369498804 rs750255371 rs755184861 rs550145119 rs188749909 rs766265352 rs1023218450 rs989363152 rs777330290 rs1054868339 rs200957247 rs773611743 rs778490964 rs956743813 rs998245542 rs202094138 rs753796704 rs1047157797 rs747801913 rs770301792 rs747381978 rs959229170 rs779909577 rs776829500 rs539207624 rs975343357 rs942552735 rs370653717 rs533561616 rs1017603532 rs971573515

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124261-26124262 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124040-26124040 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124043-26124043 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26123980-26123980 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124337-26124337 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124265-26124265 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124147-26124147 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124174-26124174 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124013-26124013 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124220-26124220 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124078-26124078 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global C (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS C (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS C (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR C (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR C (0.00) (1.00)
AMR C (0.00) (1.00)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124198-26124198 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124208-26124208 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124335-26124335 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124055-26124055 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124057-26124057 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124196-26124196 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global G (0.03) (0.97)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS G (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS G (0.08) (0.92)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR G (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR G (0.04) (0.96)
AMR G (0.03) (0.97)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124368-26124368 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124061-26124061 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26123960-26123960 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124189-26124189 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124344-26124344 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124024-26124024 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124107-26124107 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26123995-26123995 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124027-26124027 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124271-26124271 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global A (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS A (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS A (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR A (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR A (0.00) (1.00)
AMR A (0.00) (1.00)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124218-26124218 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124187-26124187 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124263-26124263 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124270-26124270 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124026-26124027 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124195-26124195 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124172-26124172 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124336-26124336 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global A (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS A (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS A (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR A (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR A (0.00) (1.00)
AMR A (0.00) (1.00)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124382-26124382 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global A (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS A (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS A (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR A (0.01) (0.99)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR A (0.00) (1.00)
AMR A (0.00) (1.00)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26123958-26123958 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124049-26124049 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124042-26124042 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124213-26124213 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global G (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS G (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS G (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR G (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR G (0.00) (1.00)
AMR G (0.00) (1.00)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124035-26124035 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124060-26124060 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124226-26124227 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124262-26124262 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global C (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS C (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS C (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR C (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR C (0.00) (1.00)
AMR C (0.00) (1.00)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124406-26124406 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global G (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS G (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS G (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR G (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR G (0.00) (1.00)
AMR G (0.01) (0.99)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124201-26124201 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124067-26124067 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124254-26124254 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124214-26124214 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124108-26124108 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124151-26124151 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124118-26124118 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124086-26124086 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124237-26124237 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26123962-26123962 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124065-26124065 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global G (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS G (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS G (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR G (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR G (0.00) (1.00)
AMR G (0.00) (1.00)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124207-26124207 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26123968-26123968 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124090-26124090 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124373-26124373 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124132-26124132 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26123999-26123999 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124064-26124064 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124030-26124030 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124300-26124300 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global A (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS A (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS A (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR A (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR A (0.00) (1.00)
AMR A (0.00) (1.00)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124286-26124286 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124285-26124285 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124309-26124309 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global T (0.01) (0.99)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS T (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS T (0.03) (0.97)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR T (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR T (0.00) (1.00)
AMR T (0.00) (1.00)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124359-26124359 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global C (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS C (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS C (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR C (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR C (0.00) (1.00)
AMR C (0.00) (1.00)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124051-26124051 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26124371-26124371 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global - Not Available	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS - Not Available	African American - Not Available	YRI (Yoruba) - Not Available
SAS - Not Available	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR - Not Available	Japanese - Not Available	JPT (Japanese) - Not Available
EUR - Not Available
AMR - Not Available

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