Product Details

SNP ID

rs184976487

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:223053062 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGCTGCTGTACAAAGACGAGGAG[C/T]GGCTCTGGGGGGAGGCCATGAAGCC

Phenotype

MIM: 607775

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KCNE4 PubMed Links

Gene Details

Gene

KCNE4

Gene Name

potassium voltage-gated channel subfamily E regulatory subunit 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080671.3	600	Missense Mutation	CGG,TGG	R129W	NP_542402.3

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