Product Details

SNP ID

rs141532266

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:35536876 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTAGAGCCCCAGCCACAACCAGAGC[C/T]CACACCAGTCAGGGAGGAAATAAAG

Phenotype

MIM: 609169 MIM: 609969 MIM: 613585

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GAPDHS PubMed Links

Gene Details

Gene

GAPDHS

Gene Name

glyceraldehyde-3-phosphate dehydrogenase, spermatogenic

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014364.4	247	Missense Mutation	CCC,CTC	P44L	NP_055179.1
XM_017026579.1	247	Intron			XP_016882068.1

Gene

SBSN

Gene Name

suprabasin

There are no transcripts associated with this gene.

Gene

TMEM147

Gene Name

transmembrane protein 147

There are no transcripts associated with this gene.

Gene

TMEM147-AS1

Gene Name

TMEM147 antisense RNA 1

There are no transcripts associated with this gene.

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