Product Details

SNP ID

rs121908423

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:33017018 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCAGCCCGTGGTCACCCTGTACC[A/G]CTGGGACCTGCCCCAGCGCCTGCAG

Phenotype

MIM: 604824

Polymorphism

A/G, 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	586	Missense Mutation	CAC,CGC	H193R	NP_004786.2
XM_006719895.2	586	Intron			XP_006719958.1

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