Product Details

SNP ID

rs2534713

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:6463421 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTTGCCTCATCCCTGTCTTTGGCAA[C/G]TGCACGGGTGGTGTGGAGGAAAGGA

Phenotype

MIM: 607081 MIM: 185880

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

TAPBPL PubMed Links

Gene Details

Gene

TAPBPL

Gene Name

TAP binding protein like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018009.4	2177	Intron			NP_060479.3
XM_005253700.3	2177	Intron			XP_005253757.1
XM_017019545.1	2177	Intron			XP_016875034.1
XM_017019546.1	2177	Intron			XP_016875035.1

Gene

VAMP1

Gene Name

vesicle associated membrane protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297438.1	2177	Intron			NP_001284367.1
NM_014231.4	2177	UTR 3			NP_055046.1
NM_016830.3	2177	Intron			NP_058439.1
NM_199245.2	2177	UTR 3			NP_954740.1

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