Product Details

SNP ID
rs199585532
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:49543275 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGGACCTGCCCTGCCTCACTCAG[C/G]GGGTGTTTGGGGAGAAACCAAACTT
Phenotype
MIM: 604527
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
KCNH3 PubMed Links

Gene Details

Gene
KCNH3
Gene Name
potassium voltage-gated channel subfamily H member 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001314030.1 1222 Missense Mutation CGG,GGG R134G NP_001300959.1
NM_012284.2 1222 Missense Mutation CGG,GGG R194G NP_036416.1
XM_011538085.2 1222 Missense Mutation CGG,GGG R194G XP_011536387.1
XM_011538086.2 1222 Missense Mutation CGG,GGG R134G XP_011536388.1
XM_017019096.1 1222 Missense Mutation CGG,GGG R116G XP_016874585.1
XM_017019097.1 1222 UTR 5 XP_016874586.1

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