Product Details

SNP ID

rs111639933

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:90062264 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCTGAACGAGGACAACGCGCGCT[G/T]TCTGCTGCTGGCCGCGCTCATCGTG

Phenotype

MIM: 607367

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

KCNK13 PubMed Links

Gene Details

Gene

KCNK13

Gene Name

potassium two pore domain channel subfamily K member 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022054.3	500	Missense Mutation	TGT,TTT	C20F	NP_071337.2

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