Product Details

SNP ID
rs147639368
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:100042522 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGACTCCGTGCCTTCTGCTGGGAG[A/C]TCTCCTCACAGGGCTTACTTGAGGG
Phenotype
MIM: 603103
Polymorphism
A/C, 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 1542 Missense Mutation GCT,TCT A428S NP_001299.1

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