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CACAAATTGCTTGAAGACACGATCC[A/G]TGTAAGTGGACTGTCTTGGCCAGAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612197 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABHD3 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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ABHD3 - abhydrolase domain containing 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001308256.1 | 1309 | Missense Mutation | ACG,ATG | T,M 337 | NP_001295185.1 | |
NM_001308257.1 | 1309 | Missense Mutation | ACG,ATG | T,M 195 | NP_001295186.1 | |
NM_138340.4 | 1309 | Missense Mutation | ACG,ATG | T,M 390 | NP_612213.2 | |
XM_011525847.2 | 1309 | Intron | XP_011524149.1 | |||
XM_017025571.1 | 1309 | Missense Mutation | ACG,ATG | T,M 195 | XP_016881060.1 | |
XM_017025572.1 | 1309 | Missense Mutation | ACG,ATG | T,M 195 | XP_016881061.1 | |
XM_017025573.1 | 1309 | Missense Mutation | ACG,ATG | T,M 195 | XP_016881062.1 | |
XM_017025574.1 | 1309 | Missense Mutation | ACG,ATG | T,M 195 | XP_016881063.1 |