Abca2 - SNV Details



 Gene Information 
Gene Name Abca2
Old Gene Names for Abca2 Ai413825 , Abc2 , D2h0s1474e
Gene Description ATP-binding cassette, sub-family A (ABC1), member 2 [Source:MGI Symbol;Acc:MGI:99606]
MGI phenotype Null mice show tremors, hyperactivity, abnormal coordination, and alterations in CNS myelin sheath ultrastructure,
Uniprot Name
CCDS Name
Gene GO
ATPase activity; response to steroid hormone stimulus; cholesterol homeostasis; lysosome; nucleoside-triphosphatase activity; regulation of transcription from RNA polymerase II promoter; endosome; microtubule organizing center; nucleotide binding; ATP binding; regulation of intracellular cholesterol transport; ATP catabolic process; cytoplasmic membrane-bounded vesicle
Homolog in other species ABCA2
Omim http://omim.org/entry/600047
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, ABT GROUP, TACTIVATION GROUP)
Gnf Expression
MEDIAN(HIGH IN NS GROUP)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000026944
Chromosome 2
Coordinate 25,447,879     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 60
Allele Frequency
A:R0.58
G:V0.42
Amino Acid Change Disrupted splicing
Splice Position 3
Sample ID IGL02158
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 55 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved