Product Details

SNP ID
rs200369419
Assay Type
Functionally Tested
NCBI dbSNP Submissions
6
Location
Chr.1:15442467 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAGCAACACCCGGACCTACCGTG[C/T]GGCCGTGGGAAAGAACAACCTGGAG
Phenotype
MIM: 601405
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CTRC PubMed Links

Gene Details

Gene
CTRC
Gene Name
chymotrypsin C
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_007272.2 274 Missense Mutation GCG,GTG A84V NP_009203.2
XM_011540550.1 274 Missense Mutation GCG,GTG A84V XP_011538852.1

View Full Product Details