Product Details

SNP ID

rs114730569

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:51971622 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGCCTCTCGGAAGAAGAGGGCCT[A/G]GCCCTGCACCTGGATGGTGCCCTCG

Phenotype

MIM: 608503

Polymorphism

A/G, 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

There are no transcripts associated with this gene.

Gene

ABHD14B

Gene Name

abhydrolase domain containing 14B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001146314.1	743	Nonsense Mutation	CAG,TAG	Q17*	NP_001139786.1
NM_001254753.1	743	Intron			NP_001241682.1
NM_032750.2	743	Nonsense Mutation	CAG,TAG	Q17*	NP_116139.1

Gene

PCBP4

Gene Name

poly(rC) binding protein 4

There are no transcripts associated with this gene.

View Full Product Details