Klhdc8a - SNV Details



 Gene Information 
Gene Name Klhdc8a
Old Gene Names for Klhdc8a A630065k24rik
Gene Description kelch domain containing 8A [Source:MGI Symbol;Acc:MGI:2442630]
Uniprot Name
CCDS Name
Gene GO
protein binding; cellular_component; biological_process; molecular_function
Homolog in other species KLHDC8A
Omim http://omim.org/entry/614503
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000042115
Chromosome 1
Coordinate 132,303,157     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 10
Allele Frequency
T:R0.60
C:V0.40
Amino Acid Change Disrupted splicing
Splice Position 2
Sample ID IGL02512
Median Base Quality 40.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved