Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCCAGGTTCAAGGTGTTTGCAGACT[A/G]TGAAGCCTACATGCAGTGCCAGGCA
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 2442 | Intron | NP_001035937.1 | |||
NM_015600.4 | 2442 | Intron | NP_056415.1 | |||
XM_005260698.1 | 2442 | Intron | XP_005260755.1 | |||
XM_011529214.2 | 2442 | Intron | XP_011527516.1 | |||
XM_011529215.1 | 2442 | Intron | XP_011527517.1 | |||
XM_011529218.1 | 2442 | Intron | XP_011527520.1 | |||
XM_017027796.1 | 2442 | Intron | XP_016883285.1 | |||
XM_017027797.1 | 2442 | Intron | XP_016883286.1 | |||
XM_017027798.1 | 2442 | 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 | 2442 | Missense Mutation | TAT,TGT | Y,C 778 | NP_002853.2 |