Abca9 - SNV Details



 Gene Information 
Gene Name Abca9
Old Gene Names for Abca9 D630040k07rik
Gene Description ATP-binding cassette, sub-family A (ABC1), member 9 [Source:MGI Symbol;Acc:MGI:2386796]
Uniprot Name
CCDS Name
Gene GO
mitochondrion; ATPase activity; integral to membrane; nucleoside-triphosphatase activity; transport; nucleotide binding; ATP binding
Homolog in other species ABCA9
Omim http://omim.org/entry/612507
Immgen Expression
LOW(HIGH IN MYELOID GROUP, DC.LC.SK, TGD.SP )
Gnf Expression
MEDIAN(HIGH IN KIDNEY, LIVER, IMM GROUP, OSTEO GROUP, PROSTATE)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000041797
Chromosome 11
Coordinate 110,160,394     (Assembly: GRCm38)    
Ref Base A
Var Base C
Zygosity Heterozygous
Read Depth 18
Allele Frequency
A:R0.67
C:V0.33
Amino Acid Change Disrupted splicing
Splice Position 6
Sample ID IGL02059
Median Base Quality 40.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved