Product Details

SNP ID
rs74315448
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.21:34370648 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCATCCTGTACCTCATGGTGATGA[C/T]TGGAATGTTCTCTTTCATCATCGTG
Phenotype
MIM: 603796
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
KCNE2 PubMed Links

Gene Details

Gene
KCNE2
Gene Name
potassium voltage-gated channel subfamily E regulatory subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_172201.1 310 Missense Mutation ACT,ATT T57I NP_751951.1
Gene
SMIM11A
Gene Name
small integral membrane protein 11A
There are no transcripts associated with this gene.

View Full Product Details