Product Details

SNP ID
rs148968498
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:34370558 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTATTACTTATATGGACAATTGGC[A/G]CCAGAACACAACAGCTGAGCAAGAG
Phenotype
MIM: 603796
Polymorphism
A/G, 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_172201.1 220 Missense Mutation CAC,CGC H27R NP_751951.1
Gene
SMIM11A
Gene Name
small integral membrane protein 11A
There are no transcripts associated with this gene.

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