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TACCAGGTTAGTGAGCAGGTGCTGC[C/T]GCACGGCCATGTCCTGTGGGGGTGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612545 | ||||||||||||||||||||
Literature Links: |
ABHD11 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 |
ABHD11 - abhydrolase domain containing 11 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001145364.2 | 814 | Missense Mutation | CAG,CGG | Q,R 159 | NP_001138836.1 | |
NM_001301058.1 | 814 | Intron | NP_001287987.1 | |||
NM_001321382.1 | 814 | Missense Mutation | CAG,CGG | Q,R 103 | NP_001308311.1 | |
NM_001321383.1 | 814 | UTR 3 | NP_001308312.1 | |||
NM_148912.3 | 814 | Missense Mutation | CAG,CGG | Q,R 216 | NP_683710.1 | |
NM_148913.3 | 814 | Missense Mutation | CAG,CGG | Q,R 209 | NP_683711.1 | |
XM_006716144.2 | 814 | Missense Mutation | CAG,CGG | Q,R 103 | XP_006716207.1 | |
XM_011516590.2 | 814 | Missense Mutation | CAG,CGG | Q,R 195 | XP_011514892.1 | |
XM_011516591.1 | 814 | Missense Mutation | CAG,CGG | Q,R 103 | XP_011514893.1 |
ABHD11-AS1 - ABHD11 antisense RNA 1 (tail to tail) | ||||||
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There are no transcripts associated with this gene. |