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Search Thermo Fisher Scientific
CGGCGAGCGCTTCTTGCGGATGCTG[C/T]GCCCGGAGGAGATGAGGTCCGCGTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602397 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATP8B1 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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ATP8B1 - ATPase phospholipid transporting 8B1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005603.4 | 3718 | Missense Mutation | CAC,CGC | H,R 1225 | NP_005594.1 | |
XM_006722481.3 | 3718 | Missense Mutation | CAC,CGC | H,R 1225 | XP_006722544.1 | |
XM_011526022.2 | 3718 | Missense Mutation | CAC,CGC | H,R 1225 | XP_011524324.1 | |
XM_011526023.2 | 3718 | Missense Mutation | CAC,CGC | H,R 1187 | XP_011524325.1 |
LOC100505549 - uncharacterized LOC100505549 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001242804.1 | 3718 | Intron | NP_001229733.1 |