Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605464 MIM: 612205 | ||||||||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABCB8 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
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CEPH (CEU) - Not Available | ||||||
EAS
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African American
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YRI (Yoruba) - Not Available | ||||||
SAS
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Japanese
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CHB (Han Chinese) - Not Available | ||||||
AFR
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Chinese
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JPT (Japanese) - Not Available | ||||||
EUR
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AMR
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ABCB8 - ATP binding cassette subfamily B member 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282291.1 | 210 | Missense Mutation | AAC,AGC | N,S 56 | NP_001269220.1 | |
NM_001282292.1 | 210 | Missense Mutation | AAC,AGC | N,S 39 | NP_001269221.1 | |
NM_001282293.1 | 210 | Intron | NP_001269222.1 | |||
NM_007188.4 | 210 | Missense Mutation | AAC,AGC | N,S 39 | NP_009119.2 |
ATG9B - autophagy related 9B | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
DME Validated Inventoried |