Vwa5a - SNV Details



 Gene Information 
Gene Name Vwa5a
Old Gene Names for Vwa5a Loh11cr2a , 5830475i06rik , Aw552491
Gene Description von Willebrand factor A domain containing 5A [Source:MGI Symbol;Acc:MGI:1915026]
Uniprot Name
CCDS Name
Gene GO
protein binding; biological_process; molecular_function
Homolog in other species VWA5A
Omim http://omim.org/entry/602929
Immgen Expression
MEDIAN(HIGH IN DC GROUP, MYELOID GROUP, BCELL GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000023186
Chromosome 9
Coordinate 38,723,379     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 57
Allele Frequency
A:R0.46
T:V0.54
Amino Acid Change N->I (Asparagine -> Isoleucine)
Sample ID IGL00966
Median Base Quality 40
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 55 Other Mutations

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

 Availability Details 
Availability Progeny Cryopreserved