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GGGAGATCTGGGGTGTGGAGCCCTC[C/T]GACCTGCAGATCCCGCCCCCCAACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 613599 MIM: 138550 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABHD12 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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ABHD12 - abhydrolase domain containing 12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042472.2 | 2602 | Intron | NP_001035937.1 | |||
NM_015600.4 | 2602 | Intron | NP_056415.1 | |||
XM_005260698.1 | 2602 | Intron | XP_005260755.1 | |||
XM_011529214.2 | 2602 | Intron | XP_011527516.1 | |||
XM_011529215.1 | 2602 | Intron | XP_011527517.1 | |||
XM_011529218.1 | 2602 | Intron | XP_011527520.1 | |||
XM_017027796.1 | 2602 | Intron | XP_016883285.1 | |||
XM_017027797.1 | 2602 | Intron | XP_016883286.1 | |||
XM_017027798.1 | 2602 | Intron | XP_016883287.1 |
PYGB - phosphorylase, glycogen; brain | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002862.3 | 2602 | Silent Mutation | TCC,TCT | S,S 831 | NP_002853.2 |