Product Details

SNP ID

rs72548793

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:223052230 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGAGCAGAAGAACCCTCTTGGAC[C/T]GGACGATTTGGGAATTCAAAACTTG

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	301	Missense Mutation	CCG,CTG	P29L	NP_542402.3

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