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TCTGTTTTTGACCTCCTGAGAGCTG[A/C]GTCCCCTTATCTCCCACTCTTGTTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 171060 MIM: 606090 | ||||||||||||||||||||
Literature Links: |
ABCB4 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 |
ABCB4 - ATP binding cassette subfamily B member 4 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000443.3 | 3477 | Silent Mutation | ACG,ACT | T,T 1173 | NP_000434.1 | |
NM_018849.2 | 3477 | Silent Mutation | ACG,ACT | T,T 1180 | NP_061337.1 | |
NM_018850.2 | 3477 | Silent Mutation | ACG,ACT | T,T 1126 | NP_061338.1 | |
XM_011516308.2 | 3477 | Silent Mutation | ACG,ACT | T,T 1180 | XP_011514610.2 | |
XM_011516309.2 | 3477 | Silent Mutation | ACG,ACT | T,T 1173 | XP_011514611.2 | |
XM_011516310.2 | 3477 | Silent Mutation | ACG,ACT | T,T 1145 | XP_011514612.2 | |
XM_011516311.2 | 3477 | Silent Mutation | ACG,ACT | T,T 1137 | XP_011514613.2 | |
XM_011516312.2 | 3477 | Silent Mutation | ACG,ACT | T,T 1133 | XP_011514614.2 | |
XM_011516313.2 | 3477 | Silent Mutation | ACG,ACT | T,T 1126 | XP_011514615.1 | |
XM_011516315.2 | 3477 | Silent Mutation | ACG,ACT | T,T 960 | XP_011514617.2 | |
XM_017012323.1 | 3477 | Silent Mutation | ACG,ACT | T,T 1180 | XP_016867812.1 |
CROT - carnitine O-octanoyltransferase | ||||||
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There are no transcripts associated with this gene. |