Whamm - SNV Details



 Gene Information 
Gene Name Whamm
Old Gene Names for Whamm Bb081391 , Whdc1
Gene Description WAS protein homolog associated with actin, golgi membranes and microtubules [Source:MGI Symbol;Acc:MGI:2142282]
Uniprot Name
CCDS Name
Gene GO
cytoplasmic vesicle membrane; actin filament organization; endoplasmic reticulum-Golgi intermediate compartment; biological_process; actin binding; Golgi apparatus; molecular_function
Homolog in other species WHAMM
Omim http://omim.org/entry/612393
Immgen Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000045795
Chromosome 7
Coordinate 81,589,532     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 22
Allele Frequency
A:R0.50
G:V0.50
Amino Acid Change Disrupted splicing
Splice Position 7
Sample ID IGL03153
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved