Product Details

SNP ID
rs200063460
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:33017035 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGTACCACTGGGACCTGCCCCAG[C/T]GCCTGCAGGACGCCTACGGCGGCTG
Phenotype
MIM: 604824
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KL PubMed Links

Gene Details

Gene
KL
Gene Name
klotho
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004795.3 603 Missense Mutation CGC,TGC R199C NP_004786.2
XM_006719895.2 603 Intron XP_006719958.1

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