Assay Details

Gene Information

BHLHE41
	Accession	Protein	COSMIC ID	Mutation	AA
RefSeq	NM_030762.2	NP_110389.1	-	-	-
GenBank	AB044088.1	BAB21502.1	-	-	-
	AW500664.1		-	-	-
	AY665466.1	AAV54601.1	-	-	-
	AY665467.1	AAV54602.1	-	-	-
	BC025968.1	AAH25968.1	-	-	-
	ENST00000242728.0		-	-	-

Phenotype

MIM: 606200

Literature Links:

BHLHE41 PubMed Links

SNP ID

rs574903461 rs574492473 rs1003645680 rs953313641 rs976551535 rs944573069 rs1003999698 rs1018125632 rs906673185 rs577174134 rs911838760 rs1021476101 rs763299628 rs929610378 rs944689128 rs918337923 rs748085380 rs545259098 rs748888162 rs911806413 rs563648358 rs1036285053 rs546401981 rs1048155 rs960979306 rs1002404821 rs918269294 rs149464363 rs967087712 rs956679184 rs925752081 rs564502601 rs751631849 rs113702524 rs892488601 rs1010857453 rs543546860 rs930675147 rs1045240653 rs1050755890 rs929662741 rs547170278 rs1009781045 rs534791472 rs76268917

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26120010-26120010 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: 26120098-26120098 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global T (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS T (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS T (0.00) (1.00)	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: 26120209-26120209 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: 26120330-26120330 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: 26120346-26120346 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: 26120362-26120362 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: 26119973-26119973 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: 26120319-26120319 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: 26120188-26120188 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: 26120345-26120345 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: 26120072-26120072 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: 26120033-26120033 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: 26120284-26120287 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: 26120158-26120158 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: 26120075-26120075 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: 26120366-26120366 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: 26120137-26120137 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: 26119972-26119972 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: 26119982-26119982 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: 26120358-26120358 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: 26120160-26120160 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global T (0.00) (1.00)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS T (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS T (0.00) (1.00)	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: 26120367-26120367 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: 26120238-26120238 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: 26120155-26120155 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global G (0.50) (0.50)	Caucasian C (0.40) (0.60)	CEPH (CEU) G (0.44) (0.56)
EAS G (0.23) (0.77)	African American G (0.23) (0.77)	YRI (Yoruba) C (0.06) (0.94)
SAS G (0.50) (0.50)	Chinese - Not Available	JPT (Japanese) G (0.17) (0.83)
AFR C (0.14) (0.86)	Japanese - Not Available	CHB (Han Chinese) G (0.18) (0.82)
EUR G (0.39) (0.61)
AMR G (0.36) (0.64)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26120173-26120173 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: 26120171-26120171 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: 26120157-26120157 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: 26120082-26120082 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: 26120219-26120219 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: 26119997-26119997 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: 26119961-26119961 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: 26120261-26120261 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: 26120172-26120172 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: 26119999-26119999 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: 26120223-26120223 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: 26120233-26120235 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: 26120215-26120215 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: 26120408-26120408 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: 26120185-26120185 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: 26120022-26120022 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: 26120368-26120368 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: 26120385-26120385 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: 26120197-26120197 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: 26119995-26119995 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: 26120384-26120384 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global T (0.04) (0.96)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS T (0.00) (1.00)	African American - Not Available	YRI (Yoruba) - Not Available
SAS T (0.13) (0.87)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR T (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR T (0.03) (0.97)
AMR T (0.04) (0.96)

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