Product Details

SNP ID
rs72548777
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:109624674 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGCCCTCGGCCTGGGAGCCCGCG[A/G]CAGCCTCGGCGTCGGCGGTCAGGGC
Phenotype
MIM: 300328
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
KCNE5 PubMed Links

Gene Details

Gene
KCNE5
Gene Name
potassium voltage-gated channel subfamily E regulatory subunit 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012282.2 491 Missense Mutation GCC,GTC A116V NP_036414.1

View Full Product Details