Ano3 - SNV Details



 Human Rare Diseases 
Cervical dystonia

 Gene Information 
Gene Name Ano3
Old Gene Names for Ano3 B230324k02rik , Ai838058 , Tmem16c
Gene Description anoctamin 3 [Source:MGI Symbol;Acc:MGI:3613666]
Uniprot Name
CCDS Name
Gene GO
chloride channel complex; chloride channel activity; cellular_component; biological_process; molecular_function
Homolog in other species ANO3
Omim http://omim.org/entry/610110
Immgen Expression
LOW
LOW
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000074968
Chromosome 2
Coordinate 110,770,926     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 29
Allele Frequency
A:R0.45
T:V0.55
Amino Acid Change Disrupted splicing
Splice Position 10
Sample ID IGL02346
Median Base Quality 39
Backgrounds C57BL/6j
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved