Product Details

SNP ID

rs201515405

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:51985437 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACTCTCCTCCATCTTGCTCAACT[C/T]CCACACGGATGTGGTGCCTGTCTTC

Phenotype

MIM: 104620 MIM: 601832

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ABHD14A PubMed Links

Gene Details

Gene

ABHD14A

Gene Name

abhydrolase domain containing 14A

There are no transcripts associated with this gene.

Gene

ABHD14A-ACY1

Gene Name

ABHD14A-ACY1 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001316331.1	761	Missense Mutation	TCC,TTC	S169F	NP_001303260.1

Gene

ACY1

Gene Name

aminoacylase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000666.2	761	Missense Mutation	TCC,TTC	S79F	NP_000657.1
NM_001198895.1	761	Missense Mutation	TCC,TTC	S79F	NP_001185824.1
NM_001198896.1	761	Missense Mutation	TCC,TTC	S79F	NP_001185825.1
NM_001198897.1	761	Missense Mutation	TCC,TTC	S79F	NP_001185826.1
NM_001198898.1	761	Missense Mutation	TCC,TTC	S44F	NP_001185827.1

Gene

RPL29

Gene Name

ribosomal protein L29

There are no transcripts associated with this gene.

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