Assay Details

Gene Information

SSPN
	Accession	Protein	COSMIC ID	Mutation	AA
RefSeq	NM_001135823.1	NP_001129295.1	-	-	-
	NM_005086.4	NP_005077.2	5038399	c.38A>G	p.Q13R
	XM_011520853.2	XP_011519155.1	-	-	-
	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

rs1029035678 rs981150204 rs1006037826 rs572453304 rs766660962 rs889363413 rs1008684705 rs1028757248 rs58747679 rs995876735 rs948108522 rs755414593 rs1052465381 rs1014677549 rs1019055863 rs542734709 rs981783070 rs900055341 rs968439571 rs1007208731 rs200655450 rs74075037 rs961895547 rs993214699 rs1014730011 rs892652693 rs939353391 rs1044013285 rs113819537 rs1011147158 rs1027585283 rs1026115003 rs1052514851 rs532474794 rs999603123 rs889406874 rs1016899329 rs371863535 rs951868749 rs973381298 rs529066254 rs970401079 rs191786136 rs562726358 rs987303220 rs973630379 rs754298808 rs939427637 rs1026059871 rs1043896488 rs556404227 rs182870521 rs928002708 rs927967072 rs576113409 rs1008240714 rs867731398 rs553873406 rs1003678814 rs920489616 rs969971756 rs758490342

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26195570-26195570 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: 26195439-26195439 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: 26195673-26195673 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: 26195460-26195460 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: 26195645-26195645 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: 26195556-26195556 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: 26195593-26195593 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: 26195387-26195387 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: 26195371-26195371 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global C (0.25) (0.75)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS C (0.37) (0.63)	African American - Not Available	YRI (Yoruba) - Not Available
SAS C (0.37) (0.63)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR C (0.10) (0.90)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR C (0.30) (0.70)
AMR C (0.16) (0.84)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26195527-26195527 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: 26195434-26195434 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: 26195651-26195651 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: 26195458-26195458 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: 26195594-26195594 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: 26195404-26195404 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: 26195463-26195463 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: 26195710-26195711 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: 26195513-26195513 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: 26195356-26195356 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: 26195396-26195396 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: 26195735-26195735 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 (0.01) (0.99)
AMR G (0.00) (1.00)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26195312-26195312 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global A (0.03) (0.97)	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 (0.12) (0.88)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR A (0.00) (1.00)
AMR A (0.01) (0.99)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26195601-26195601 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: 26195613-26195613 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: 26195405-26195405 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: 26195307-26195307 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: 26195744-26195744 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: 26195509-26195509 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: 26195496-26195496 on Build GRCh38

Allele Frequency

1000Genome	Applied Biosystems®	HapMap
Global G (0.24) (0.76)	Caucasian - Not Available	CEPH (CEU) - Not Available
EAS G (0.37) (0.63)	African American - Not Available	YRI (Yoruba) - Not Available
SAS G (0.36) (0.64)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR G (0.09) (0.91)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR G (0.26) (0.74)
AMR G (0.15) (0.85)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26195318-26195318 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: 26195641-26195641 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: 26195419-26195419 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: 26195304-26195304 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: 26195652-26195652 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 (0.01) (0.99)	Chinese - Not Available	CHB (Han Chinese) - Not Available
AFR T (0.00) (1.00)	Japanese - Not Available	JPT (Japanese) - Not Available
EUR T (0.01) (0.99)
AMR T (0.01) (0.99)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26195655-26195655 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: 26195393-26195393 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: 26195675-26195686 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: 26195353-26195353 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: 26195436-26195436 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: 26195426-26195426 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: 26195536-26195536 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: 26195457-26195457 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: 26195416-26195416 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 (0.01) (0.99)
AMR T (0.00) (1.00)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26195714-26195714 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 (0.01) (0.99)	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: 26195399-26195399 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: 26195620-26195620 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: 26195647-26195647 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: 26195479-26195479 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: 26195648-26195648 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: 26195546-26195546 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: 26195398-26195398 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: 26195440-26195440 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 (0.03) (0.97)

Submission count

NA

Allele Nomenclature

Chromosome Location

Chr.12: 26195736-26195736 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: 26195465-26195465 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: 26195534-26195534 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: 26195565-26195565 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: 26195590-26195590 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: 26195444-26195444 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: 26195301-26195301 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: 26195428-26195428 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: 26195696-26195696 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: 26195730-26195730 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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