Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612766 | ||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABHD8 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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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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ABHD8 - abhydrolase domain containing 8 | ||||||
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There are no transcripts associated with this gene. |
ANKLE1 - ankyrin repeat and LEM domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278443.1 | 552 | Missense Mutation | CAG,CTG | Q,L 137 | NP_001265372.1 | |
NM_001278444.1 | 552 | Missense Mutation | CAG,CTG | Q,L 148 | NP_001265373.1 | |
NM_001278445.1 | 552 | Missense Mutation | CAG,CTG | Q,L 116 | NP_001265374.1 | |
NM_152363.5 | 552 | Missense Mutation | CAG,CTG | Q,L 148 | NP_689576.5 |
BABAM1 - BRISC and BRCA1 A complex member 1 | ||||||
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There are no transcripts associated with this gene. |