Product Details

SNP ID
rs199473547
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:150945441 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCAGCTGGCCCGGTAGGGAGAGG[T/C]GTCGTGTGGGGCCTTCTTGGGGAAG
Phenotype
MIM: 152427
Polymorphism
T/C, Transition substitution
Allele Nomenclature
Literature Links
KCNH2 PubMed Links

Gene Details

Gene
KCNH2
Gene Name
potassium voltage-gated channel subfamily H member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000238.3 3216 Missense Mutation CAC,CGC H1135R NP_000229.1
NM_001204798.1 3216 Intron NP_001191727.1
NM_172056.2 3216 Intron NP_742053.1
NM_172057.2 3216 Missense Mutation CAC,CGC H795R NP_742054.1
XM_011516185.2 3216 Missense Mutation CAC,CGC H1035R XP_011514487.1
XM_011516186.2 3216 Intron XP_011514488.1
XM_017012195.1 3216 Missense Mutation CAC,CGC H1085R XP_016867684.1
XM_017012196.1 3216 Missense Mutation CAC,CGC H1076R XP_016867685.1

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