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GACTGTGGTACAGACCTCCATGAGC[C/T]GGTCCCAGGTAGCCCTGCTGGGCCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 104620 | ||||||||||||||||||||
Literature Links: |
ABHD14A 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 |
ABHD14A - abhydrolase domain containing 14A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015407.4 | 204 | Missense Mutation | CGG,TGG | R,W 32 | NP_056222.2 |
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 | 204 | UTR 5 | NP_001303260.1 |
ABHD14B - abhydrolase domain containing 14B | ||||||
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There are no transcripts associated with this gene. |
ACY1 - aminoacylase 1 | ||||||
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There are no transcripts associated with this gene. |