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CTGTGAGCTTGGTGACAGGGACAGC[T/G]GTCATATTCTTCTGTGAGGCTGTTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601769 | ||||||||||||||||||||
Literature Links: |
VDR PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
VDR - vitamin D (1,25- dihydroxyvitamin D3) receptor | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000376.2 | 2214 | UTR 3 | NP_000367.1 | |||
NM_001017535.1 | 2214 | UTR 3 | NP_001017535.1 | |||
NM_001017536.1 | 2214 | UTR 3 | NP_001017536.1 | |||
XM_006719587.3 | 2214 | Intron | XP_006719650.1 | |||
XM_011538720.2 | 2214 | Intron | XP_011537022.1 |