Ash1l - SNV Details



 Gene Information 
Gene Name Ash1l
Gene Description ash1 (absent, small, or homeotic)-like (Drosophila) [Source:MGI Symbol;Acc:MGI:2183158]
Uniprot Name
CCDS Name
Gene GO
tight junction; chromatin binding; regulation of transcription
DNA-templated; cytoplasm; zinc ion binding; histone-lysine N-methyltransferase activity; DNA binding; protein binding; nucleus; extracellular vesicular exosome; histone lysine methylation; biological_process; chromosome; Golgi apparatus; transcription
DNA-templated
Homolog in other species ASH1L
Omim http://omim.org/entry/607999
Immgen Expression
HIGH
Gnf Expression
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028053
Chromosome 3
Coordinate 89,023,037     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 79
Allele Frequency
A:R0.53
G:V0.47
Amino Acid Change I->M (Isoleucine -> Methionine)
Sample ID IGL02727
Median Base Quality 40
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 45 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Druggable Yes, View known drug interactions

 Availability Details 
Availability