Product Details

SNP ID
rs200910331
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:15440533 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCAAGAACGACACGTGGAGGCATA[C/T]GTGTGGCGGGACTTTGATTGCTAGC
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_007272.2 196 Missense Mutation ACG,ATG T58M NP_009203.2
XM_011540550.1 196 Missense Mutation ACG,ATG T58M XP_011538852.1

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