Product Details

SNP ID
rs200128422
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:51078062 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTCTGTACTTGCACAGGTTGGTG[C/T]AGACACCGGGGTAGCCAGGCAGGGC
Phenotype
MIM: 606135
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KLK14 PubMed Links

Gene Details

Gene
KLK14
Gene Name
kallikrein related peptidase 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001311182.1 933 Missense Mutation TAC,TGC Y250C NP_001298111.1
NM_022046.5 933 Missense Mutation TAC,TGC Y250C NP_071329.2
XM_017026820.1 933 Intron XP_016882309.1

View Full Product Details