Product Details

SNP ID

rs200517420

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:33016951 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCGTCCCCAACCGCGAGGGGCTG[A/C]GCTACTACCGGCGCCTGCTGGAGCG

Phenotype

MIM: 604824

Polymorphism

A/C, Transversion 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	519	Missense Mutation	AGC,CGC	S171R	NP_004786.2
XM_006719895.2	519	Intron			XP_006719958.1

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