Vps13c - SNV Details



 Gene Information 
Gene Name Vps13c
Old Gene Names for Vps13c Ai552542 , Av026040 , C230055h22rik , W51662
Gene Description vacuolar protein sorting 13C (yeast) [Source:MGI Symbol;Acc:MGI:2444207]
Uniprot Name
CCDS Name
Gene GO
protein localization; cellular_component; biological_process; molecular_function
Homolog in other species VPS13C
Omim http://omim.org/entry/608879
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000035284
Chromosome 9
Coordinate 67,955,780     (Assembly: GRCm38)    
Ref Base A
Codon Change cAt/cTt
Var Base T
Zygosity Heterozygous
Read Depth 31
Allele Frequency
A:R0.65
T:V0.36
Amino Acid Position 3026
Amino Acid Change H->L (Histidine -> Leucine)
Sample ID IGL01810
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.87
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved