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TGTTAACAGCTTTGCAGACAACACC[C/T]GTCGTTTTATGCCCCTGAGCGATGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600387 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BST1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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BST1 - bone marrow stromal cell antigen 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004334.2 | 984 | Missense Mutation | CGT,TGT | R,C 124 | NP_004325.2 | |
XM_005248185.1 | 984 | Missense Mutation | CGT,TGT | R,C 124 | XP_005248242.1 | |
XM_005248186.1 | 984 | Missense Mutation | CGT,TGT | R,C 124 | XP_005248243.1 | |
XM_011513878.2 | 984 | Missense Mutation | CGT,TGT | R,C 124 | XP_011512180.1 | |
XM_011513879.1 | 984 | Missense Mutation | CGT,TGT | R,C 124 | XP_011512181.1 | |
XM_011513881.2 | 984 | Missense Mutation | CGT,TGT | R,C 66 | XP_011512183.1 | |
XM_017008565.1 | 984 | Missense Mutation | CGT,TGT | R,C 124 | XP_016864054.1 | |
XM_017008566.1 | 984 | Missense Mutation | CGT,TGT | R,C 124 | XP_016864055.1 | |
XM_017008567.1 | 984 | UTR 5 | XP_016864056.1 |