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CAAGGCATGGAGCTGTTCGTGCAGC[A/G]GCCTGAGTTCCACGCCCTGAGGGCA
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 104620 MIM: 601832 | |||||||||||||||||||||||
Literature Links: |
ABHD14A 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 - 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 |
ABHD14A - abhydrolase domain containing 14A | ||||||
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There are no transcripts associated with this gene. |
ABHD14A-ACY1 - ABHD14A-ACY1 readthrough | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001316331.1 | 1007 | Missense Mutation | CAG,CGG | Q,R 251 | NP_001303260.1 |
ACY1 - aminoacylase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000666.2 | 1007 | Missense Mutation | CAG,CGG | Q,R 161 | NP_000657.1 | |
NM_001198895.1 | 1007 | Missense Mutation | CAG,CGG | Q,R 161 | NP_001185824.1 | |
NM_001198896.1 | 1007 | Intron | NP_001185825.1 | |||
NM_001198897.1 | 1007 | Missense Mutation | CAG,CGG | Q,R 161 | NP_001185826.1 | |
NM_001198898.1 | 1007 | Missense Mutation | CAG,CGG | Q,R 126 | NP_001185827.1 |
RPL29 - ribosomal protein L29 | ||||||
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There are no transcripts associated with this gene. |