Product Details

SNP ID

rs139167254

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:35526777 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCACTTCCTTTCCAGCCTGGTCA[A/G]CAGCATGGTTGACCCCTTGGCCAAG

Phenotype

MIM: 609169 MIM: 609969

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GAPDHS PubMed Links

Gene Details

Gene

GAPDHS

Gene Name

glyceraldehyde-3-phosphate dehydrogenase, spermatogenic

There are no transcripts associated with this gene.

Gene

SBSN

Gene Name

suprabasin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001166034.1	1541	Missense Mutation	GCT,GTT	A502V	NP_001159506.1
NM_001166035.1	1541	Intron			NP_001159507.1
NM_198538.3	1541	Missense Mutation	GCT,GTT	A159V	NP_940940.1
XM_011526929.2	1541	Missense Mutation	GCT,GTT	A484V	XP_011525231.1
XM_011526930.2	1541	Missense Mutation	GCT,GTT	A484V	XP_011525232.1
XM_011526931.2	1541	Missense Mutation	GCT,GTT	A466V	XP_011525233.1

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