Product Details

SNP ID

rs2534714

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:6463895 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAATCCTGGACGAACAGATTAGAA[A/G]TAACTACAAAAAACAAGTTTTTACT

Phenotype

MIM: 607081 MIM: 185880

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

TAPBPL PubMed Links

Additional Information

For this assay, SNP(s) [rs148986639] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1703	Intron			NP_060479.3
XM_005253700.3	1703	Intron			XP_005253757.1
XM_017019545.1	1703	Intron			XP_016875034.1
XM_017019546.1	1703	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	1703	Intron			NP_001284367.1
NM_014231.4	1703	UTR 3			NP_055046.1
NM_016830.3	1703	Intron			NP_058439.1
NM_199245.2	1703	UTR 3			NP_954740.1

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