Product Details

SNP ID
rs202201734
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:62707687 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTTCTGCCACCTGCTTTTCTAGGG[A/C]AGTCATTCTGCAGCTGAGCAGCTGG
Phenotype
MIM: 605716
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
KCNH5 PubMed Links

Gene Details

Gene
KCNH5
Gene Name
potassium voltage-gated channel subfamily H member 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_139318.4 2643 Missense Mutation GCC,TCC A930S NP_647479.2
NM_172375.2 2643 UTR 3 NP_758963.1

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