Product Details

SNP ID

rs3847987

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:47844285 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AAGGGGGTGGGGTGGGAGCTGTGGG[A/C]CGATTATTTATCGTGAGTAGGCAGG

Phenotype

MIM: 601769

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

VDR PubMed Links

Additional Information

For this assay, SNP(s) [rs112308011,rs11574118] are located under a primer 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

VDR

Gene Name

vitamin D (1,25- dihydroxyvitamin D3) receptor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000376.2	2027	UTR 3			NP_000367.1
NM_001017535.1	2027	UTR 3			NP_001017535.1
NM_001017536.1	2027	UTR 3			NP_001017536.1
XM_006719587.3	2027	Intron			XP_006719650.1
XM_011538720.2	2027	Intron			XP_011537022.1

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