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AGCTGCTATGACTCTTTCCATGGGA[A/G]TTTCTTTGGTGTTGTCTCCATACTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603201 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABCB11 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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ABCB11 - ATP binding cassette subfamily B member 11 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003742.2 | 2530 | Missense Mutation | ACT,ATT | T,I 1183 | NP_003733.2 | |
XM_006712817.3 | 2530 | Missense Mutation | ACT,ATT | T,I 1197 | XP_006712880.1 | |
XM_011512077.2 | 2530 | Missense Mutation | ACT,ATT | T,I 1217 | XP_011510379.1 | |
XM_011512078.2 | 2530 | Missense Mutation | ACT,ATT | T,I 1217 | XP_011510380.1 | |
XM_011512080.2 | 2530 | Intron | XP_011510382.1 | |||
XM_011512081.2 | 2530 | Missense Mutation | ACT,ATT | T,I 625 | XP_011510383.1 | |
XM_017005165.1 | 2530 | Missense Mutation | ACT,ATT | T,I 1217 | XP_016860654.1 | |
XM_017005166.1 | 2530 | Missense Mutation | ACT,ATT | T,I 960 | XP_016860655.1 | |
XM_017005167.1 | 2530 | Missense Mutation | ACT,ATT | T,I 778 | XP_016860656.1 |