Product Details

SNP ID

rs138814145

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:100048853 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGTGTAGATACCTGGAAGCAGCA[G/T]CCGGAAGTAATCACCATGGTCACCT

Phenotype

MIM: 603103

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CPN1 PubMed Links

Gene Details

Gene

CPN1

Gene Name

carboxypeptidase N subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001308.2	1395	Missense Mutation	ATG,CTG	M379L	NP_001299.1

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