Kctd18 - SNV Details



 Gene Information 
Gene Name Kctd18
Old Gene Names for Kctd18 4932411a20rik
Gene Description potassium channel tetramerisation domain containing 18 [Source:MGI Symbol;Acc:MGI:3603813]
Uniprot Name
CCDS Name
Gene GO
ion channel activity; cellular_component; protein homooligomerization; biological_process; molecular_function
Homolog in other species KCTD18
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
LOW
MEDIAN
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000054770
Chromosome 1
Coordinate 57,965,400     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 24
Allele Frequency
A:R0.46
G:V0.54
Amino Acid Change Y->H (Tyrosine -> Histidine)
Sample ID IGL02513
Median Base Quality 38.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved