Product Details

SNP ID

rs193233043

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:30385143 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAAGCTTATGCTTCAAACCACCCC[A/G]TAATGAAAACTGGTGAGCCTCATTG

Phenotype

MIM: 603102

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CPD PubMed Links

Gene Details

Gene

CPD

Gene Name

carboxypeptidase D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001199775.1	320	Missense Mutation	ATA,GTA	I54V	NP_001186704.1
NM_001304.4	320	Missense Mutation	ATA,GTA	I301V	NP_001295.2

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