VDR
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601769
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Literature Links: |
VDR PubMed Links | ||||||||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | ||||||
|---|---|---|---|---|---|---|---|---|
Global
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Caucasian - Not Available | CEPH (CEU)
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EAS
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African American - Not Available | YRI (Yoruba)
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SAS
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Chinese - Not Available | JPT (Japanese)
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AFR
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Japanese - Not Available | CHB (Han Chinese)
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EUR
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AMR
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| 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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