Product Details

SNP ID

rs72548794

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:223052254 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGACGATTTGGGAATTCAAAACT[C/T]GGGACAAACTGTCAGCCTTGGTAAG

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	325	Missense Mutation	TCG,TTG	S37L	NP_542402.3

View Full Product Details