Product Details

SNP ID

rs72548796

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:223052819 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCTTTTTCCCCAGCCCCTGCTGTG[C/G]AGGCAGCCTCAATGCTGAAAATGGA

Phenotype

MIM: 607775

Polymorphism

C/G, 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	357	Missense Mutation	CAG,GAG	Q48E	NP_542402.3

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