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; transcription
DNA-dependent; cytoplasm; zinc ion binding; histone-lysine N-methyltransferase activity; DNA binding; protein binding; nucleus; regulation of transcription
DNA-dependent; biological_process; chromosome; Golgi apparatus
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 88,983,529     (Assembly: GRCm38)    
Ref Base T
Codon Change gTc/gCc
Var Base C
Zygosity Heterozygous
Read Depth 25
Allele Frequency
T:R0.48
C:V0.52
Amino Acid Position 905
Amino Acid Change V->A (Valine -> Alanine)
Sample ID IGL01293
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 45 Other Mutations

 Predictions 
Polyphen Score 0.34
Polyphen Prediction Benign
Sift Score 0.01
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved