Product Details

SNP ID

rs75478109

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:148868955 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGGTGCCACCCACCACGTAGCTG[C/T]TAATATGATGGTGGATTTCCGAGTT

Phenotype

MIM: 114851 MIM: 114852

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CPA3 PubMed Links

Gene Details

Gene

CPA3

Gene Name

carboxypeptidase A3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001870.3	237	Missense Mutation	GCT,GTT	A62V	NP_001861.2

Gene

CPB1

Gene Name

carboxypeptidase B1

There are no transcripts associated with this gene.

View Full Product Details