Product Details

SNP ID
rs11574117
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:47844524 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TTGGGTTTCTTTGTCAAACAAACAG[C/G]AACTCCTCATGGCTGAGGTCTCAAG
Phenotype
MIM: 601769
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
VDR PubMed Links

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 1788 UTR 3 NP_000367.1
NM_001017535.1 1788 UTR 3 NP_001017535.1
NM_001017536.1 1788 UTR 3 NP_001017536.1
XM_006719587.3 1788 Intron XP_006719650.1
XM_011538720.2 1788 Intron XP_011537022.1

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