Cacna1i - SNV Details



 Gene Information 
Gene Name Cacna1i
Gene Description calcium channel, voltage-dependent, alpha 1I subunit [Source:MGI Symbol;Acc:MGI:2178051]
Uniprot Name
CCDS Name
Gene GO
membrane; protein binding; ion channel activity; cellular_component; ion transport; voltage-gated calcium channel complex; voltage-gated calcium channel activity; transmembrane transport
Homolog in other species CACNA1I
Omim http://omim.org/entry/608230
Immgen Expression
MEDIAN(HIGHER IN BCELL GROUP)
Gnf Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000022416
Chromosome 15
Coordinate 80,355,645     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 16
Allele Frequency
G:R0.31
A:V0.69
Amino Acid Change M->I (Methionine -> Isoleucine)
Sample ID IGL00976
Median Base Quality 38.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

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

 Availability Details 
Availability