Ano10 - SNV Details



 Human Rare Diseases 
Adult-onset autosomal recessive cerebellar ataxia

 Gene Information 
Gene Name Ano10
Old Gene Names for Ano10 Tmem16k , Ai604832
Gene Description anoctamin 10 [Source:MGI Symbol;Acc:MGI:2143103]
Uniprot Name
CCDS Name
Gene GO
biological_process
cellular_component
chloride channel activity
chloride channel complex
integral to membrane
ion channel activity
ion transport
membrane
molecular_function
Homolog in other species ANO10
Omim http://omim.org/entry/613726
Immgen Expression
MEDIAN(HIGHER IN MYELOID GROUP, TGD.VG5+.ACT.IEL)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037949
Chromosome 9
Coordinate 122,271,324     (Assembly: GRCm38)    
Ref Base T
Codon Change aAt/aGt
Var Base C
Zygosity Heterozygous
Read Depth 49
Allele Frequency
T:0.57
C:0.43
Amino Acid Position 116
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL00886
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.25
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved