Kcnh8 - SNV Details



 Gene Information 
Gene Name Kcnh8
Old Gene Names for Kcnh8 C130090d05rik
Gene Description potassium voltage-gated channel, subfamily H (eag-related), member 8 [Source:MGI Symbol;Acc:MGI:2445160]
Uniprot Name
CCDS Name
Gene GO
phosphorelay signal transduction system; membrane; potassium ion transmembrane transport; regulation of transcription
DNA-templated; signal transduction; protein binding; ion channel activity; phosphorelay sensor kinase activity; ion transport; voltage-gated potassium channel activity; nucleotide binding; transmembrane transport; integral component of plasma membrane; signal transducer activity; regulation of membrane potential; signal transduction by phosphorylation
Homolog in other species KCNH8
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000035580
Chromosome 17
Coordinate 52,959,443     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 23
Allele Frequency
A:R0.52
G:V0.48
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL02688
Median Base Quality 39
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 25 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved