Product Details

SNP ID

rs75627697

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:51978249 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTCCCAGCAAACACATTCCCCTGT[C/G]TGCCTGCAGGGTGGAGGTGGTGCTG

Phenotype

MIM: 104620

Polymorphism

C/G, 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		Intron			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		Intron			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.

View Full Product Details