Assay Details

Gene Information

SSPN
	Accession	Protein	COSMIC ID	Mutation	AA
RefSeq	NM_001135823.1	NP_001129295.1	-	-	-
	NM_005086.4	NP_005077.2	7130569	c.282C>G	p.V94V
			5916294	c.357T>G	p.F119L
			3459563	c.323C>T	p.S108L
			6323499	c.296A>T	p.Y99F
			3416738	c.359C>A	p.S120Y
			5086708	c.336C>T	p.D112D
			293431	c.357T>C	p.F119F
			6000694	c.303C>T	p.G101G
			147456	c.286T>C	p.L96L
			5624230	c.336C>G	p.D112E
			6790806	c.341G>A	p.R114Q
			1227643	c.338A>G	p.E113G
			2202824	c.339A>C	p.E113D
			6790812	c.342G>A	p.R114R
			5702055	c.366_366+1AG>TA	p.?
	XM_011520853.2	XP_011519155.1	-	-	-
	XM_011520854.2	XP_011519156.1	-	-	-
	XM_011520855.2	XP_011519157.1	-	-	-
GenBank	AF016028.2	AAC61660.2	-	-	-
	AK092925.1		-	-	-
	AK304667.1		-	-	-
	AK314353.1		-	-	-
	AL136756.1	CAB66690.1	-	-	-
	BC062299.1	AAH62299.1	-	-	-
	BP341300.1		-	-	-
	DA073350.1		-	-	-
	DQ897666.1		-	-	-
	ENST00000242729.0		-	-	-
	EU433933.1		-	-	-
	X89105.1	CAA61479.1	-	-	-

Phenotype

MIM: 601599

Literature Links:

SSPN PubMed Links

SNP ID

rs1038020007 rs757207523 rs758287876 rs377574414 rs548536288 rs1039058090 rs1055385074 rs763348962 rs780740051 rs545858840 rs138321192 rs778794881 rs776093894 rs772115161 rs535226860 rs767642817 rs895604240 rs752497256 rs748018010 rs781447187 rs775808895 rs1001950017 rs369712013 rs904894643 rs376845119 rs1013926187 rs1035189068 rs769438340 rs575362169 rs748002186 rs148183556 rs41529345 rs756348957 rs564243971 rs777790719 rs374132589 rs1033373414 rs762783901 rs753856607 rs967329871 rs778850539 rs972258384 rs529978341 rs767069776 rs754691866 rs952282568 rs749949566 rs766509472 rs34624361 rs571032601 rs777882481 rs757390935 rs563238029 rs750672202 rs535820464 rs780475514 rs919385717 rs773245079 rs776079884 rs930911832 rs1049754477 rs373455398 rs967924006 rs746451839 rs575269689 rs764547802 rs575070094 rs146065049 rs761742193

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26224035-26224035 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: 26224413-26224413 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: 26224393-26224393 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: 26224250-26224250 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: 26224446-26224446 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: 26224499-26224499 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: 26224195-26224195 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: 26224330-26224330 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: 26224423-26224423 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: 26224158-26224158 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: 26224009-26224009 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: 26224298-26224298 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: 26224298-26224299 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: 26224259-26224259 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: 26224004-26224004 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: 26224354-26224354 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: 26224206-26224206 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: 26224375-26224375 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: 26224252-26224252 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: 26224464-26224464 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: 26224323-26224323 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: 26224054-26224054 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: 26224285-26224285 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: 26224053-26224053 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: 26224410-26224410 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: 26224212-26224212 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: 26224056-26224056 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: 26224356-26224357 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: 26224184-26224184 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: 26224341-26224341 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: 26224352-26224352 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: 26224071-26224071 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global G (0.01) (0.99)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS G (0.00) (1.00)	African American - Not Available	YRI (Yoruba) G (0.04) (0.96)
SAS G (0.00) (1.00)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR G (0.05) (0.95)	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: 26224368-26224368 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: 26224162-26224162 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: 26224396-26224396 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: 26224307-26224307 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: 26224260-26224260 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: 26224365-26224366 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: 26224261-26224261 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: 26223971-26223971 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: 26224251-26224251 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: 26224104-26224104 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: 26224367-26224367 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: 26223989-26223989 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: 26224276-26224276 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: 26224409-26224409 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: 26224038-26224038 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: 26224415-26224416 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: 26224299-26224299 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global C (0.07) (0.93)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS C (0.04) (0.96)	African American - Not Available	YRI (Yoruba) - Not Available
SAS C (0.07) (0.93)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR C (0.09) (0.91)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR C (0.07) (0.93)
AMR C (0.10) (0.90)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26223990-26223990 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: 26224277-26224277 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: 26224243-26224243 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: 26224466-26224466 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: 26224245-26224245 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: 26224062-26224062 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: 26224374-26224374 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: 26224138-26224138 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: 26224361-26224362 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: 26224293-26224293 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: 26224165-26224165 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: 26224169-26224169 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: 26224244-26224244 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: 26224233-26224233 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: 26224279-26224279 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: 26224128-26224128 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: 26224349-26224349 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: 26224041-26224041 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: 26224185-26224185 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: 26224353-26224353 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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