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SNP ID:
rs7975232
Gene
VDR
Gene Name
Set Membership:
> HapMap
Chromosome Location:
Chr.12: 47845054 - 47845054 on Build GRCh38
Polymorphism:
A/C, Transversion substitution
Context Sequence [VIC/FAM]:

AAGGCACAGGAGCTCTCAGCTGGGC[A/C]CCTCACTGCTCAATCCCACCACCCC

Assay ID C__28977635_10
Size
Availability Made To Order
Catalog # 4351379
Price
Your Price
Online offer:
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 601769

Literature Links:

 VDR PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
C (0.48)
(0.52)
Caucasian - Not Available CEPH (CEU)
C (0.43)
(0.57)
EAS
A (0.29)
(0.71)
African American - Not Available YRI (Yoruba)
C (0.37)
(0.63)
SAS
C (0.41)
(0.59)
Chinese - Not Available JPT (Japanese)
A (0.34)
(0.66)
AFR
C (0.36)
(0.64)
Japanese - Not Available CHB (Han Chinese)
A (0.30)
(0.70)
EUR
C (0.45)
(0.55)
AMR
A (0.44)
(0.56)
VDR - vitamin D (1,25- dihydroxyvitamin D3) receptor
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_000376.2 Intron NP_000367.1
NM_001017535.1 Intron NP_001017535.1
NM_001017536.1 Intron NP_001017536.1
XM_006719587.3 Intron XP_006719650.1
XM_011538720.2 Intron XP_011537022.1

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