Product Details

SNP ID
rs141044584
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:194341106 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGAGCCTCGATAGACACGGTGAGCC[A/G]CAGAGAACCGCAGCTCGACCTCAGG
Phenotype
MIM: 603104
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CPN2 PubMed Links

Gene Details

Gene
CPN2
Gene Name
carboxypeptidase N subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080513.3 1687 Missense Mutation CGG,TGG R533W NP_001073982.3
NM_001291988.1 1687 Missense Mutation CGG,TGG R533W NP_001278917.1
XM_005269280.4 1687 Missense Mutation CGG,TGG R533W XP_005269337.1

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