Product Details

SNP ID

rs12621643

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:223053265 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCATTCAGGAGGAGGGGGCAGACGA[G/T]GAGCTGGAGGAGACCTCGGAGACGC

Phenotype

MIM: 607775

Polymorphism

G/T, Transversion 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	803	Missense Mutation	GAG,GAT	E196D	NP_542402.3

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