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TTTTTGACAGGAAAACAAACAACAT[C/T]GTATGACCAAAAATATAGCCGTTGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604716 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
UGT2A1 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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UGT2A1 - UDP glucuronosyltransferase family 2 member A1 complex locus | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001252274.2 | 1420 | Missense Mutation | CAA,CGA | Q,R 674 | NP_001239203.2 | |
NM_001252275.2 | 1420 | Missense Mutation | CAA,CGA | Q,R 508 | NP_001239204.2 | |
NM_001301239.1 | 1420 | Missense Mutation | CAA,CGA | Q,R 464 | NP_001288168.1 | |
NM_006798.4 | 1420 | Missense Mutation | CAA,CGA | Q,R 508 | NP_006789.3 |
UGT2A2 - UDP glucuronosyltransferase family 2 member A2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001105677.2 | 1420 | Missense Mutation | CAA,CGA | Q,R 517 | NP_001099147.2 | |
NM_001301233.1 | 1420 | Missense Mutation | CAA,CGA | Q,R 473 | NP_001288162.1 |