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GAGAATTTGCCATCTTCACCTGGAT[A/G]TAACTCCTGTGATGAACACATGGAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616714 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HBP1 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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HBP1 - HMG-box transcription factor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001244262.1 | 326 | Missense Mutation | TAT,TGT | Y,C 57 | NP_001231191.1 | |
NM_012257.3 | 326 | Missense Mutation | TAT,TGT | Y,C 47 | NP_036389.2 | |
XM_005250266.2 | 326 | Missense Mutation | TAT,TGT | Y,C 47 | XP_005250323.1 | |
XM_005250267.2 | 326 | Missense Mutation | TAT,TGT | Y,C 47 | XP_005250324.1 | |
XM_017011967.1 | 326 | Missense Mutation | TAT,TGT | Y,C 47 | XP_016867456.1 |