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SNP ID: rs145922036
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:51978310 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AGGCCTTTAACTCTCACACGTGGGA[G/T]CAGCTGGGCACACTGCAGCTACTGT
Phenotype: MIM: 104620
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: ABHD14A PubMed Links

Gene Details

Gene: ABHD14A
Gene Name: abhydrolase domain containing 14A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015407.4	443	Missense Mutation	GAG,GAT	E111D	NP_056222.2

Gene: ABHD14A-ACY1
Gene Name: ABHD14A-ACY1 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001316331.1	443	Missense Mutation	AGC,ATC	S63I	NP_001303260.1

Gene: ABHD14B
Gene Name: abhydrolase domain containing 14B

There are no transcripts associated with this gene.

Gene: ACY1
Gene Name: aminoacylase 1

There are no transcripts associated with this gene.

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