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SNP ID:
rs2228570
Gene
VDR
Gene Name
Set Membership:
> HapMap
Chromosome Location:
Chr.12: 47879112 - 47879112 on Build GRCh38
Polymorphism:
A/G, Transition substitution
Context Sequence [VIC/FAM]:

GGAAGTGCTGGCCGCCATTGCCTCC[A/G]TCCCTGTAAGAACAGCAAGCAGGCC

Assay ID C__12060045_20
Size
Availability Made To Order
Catalog # 4351379
Price
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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
T (0.33)
(0.67)
Caucasian - Not Available CEPH (CEU)
T (0.41)
(0.59)
EAS
A (0.42)
(0.58)
African American - Not Available YRI (Yoruba)
A (0.19)
(0.81)
SAS
T (0.27)
(0.73)
Chinese - Not Available JPT (Japanese)
A (0.33)
(0.67)
AFR
T (0.19)
(0.81)
Japanese - Not Available CHB (Han Chinese)
A (0.44)
(0.56)
EUR
A (0.38)
(0.62)
AMR
A (0.48)
(0.52)
VDR - vitamin D (1,25- dihydroxyvitamin D3) receptor
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_000376.2 284 Missense Mutation AAG,AGG K,R 1 NP_000367.1
NM_001017535.1 284 Missense Mutation AAG,AGG K,R 1 NP_001017535.1
NM_001017536.1 284 Missense Mutation AAG,AGG K,R 51 NP_001017536.1
XM_006719587.3 284 Missense Mutation AAG,AGG K,R 1 XP_006719650.1
XM_011538720.2 284 Missense Mutation AAG,AGG K,R 1 XP_011537022.1

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