Product Details

SNP ID
rs199473041
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:150946905 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAAAGCGAGTCCAAGGTGAGGGTG[G/A]GGAGGGGGCTGACGGGCAACAGCGG
Phenotype
MIM: 152427
Polymorphism
G/A, 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 3114 Missense Mutation CCC,CTC P1101L NP_000229.1
NM_001204798.1 3114 Intron NP_001191727.1
NM_172056.2 3114 Intron NP_742053.1
NM_172057.2 3114 Missense Mutation CCC,CTC P761L NP_742054.1
XM_011516185.2 3114 Missense Mutation CCC,CTC P1001L XP_011514487.1
XM_011516186.2 3114 Intron XP_011514488.1
XM_017012195.1 3114 Missense Mutation CCC,CTC P1051L XP_016867684.1
XM_017012196.1 3114 Missense Mutation CCC,CTC P1042L XP_016867685.1

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