Abca13 - SNV Details



 Gene Information 
Gene Name Abca13
Old Gene Names for Abca13 A930002g16rik , Ai956815
Gene Description ATP-binding cassette, sub-family A (ABC1), member 13 [Source:MGI Symbol;Acc:MGI:2388707]
Uniprot Name
CCDS Name
Gene GO
ATPase activity; nucleoside-triphosphatase activity; integral component of membrane; cellular_component; transport; nucleotide binding; ATP binding; biological_process; ATP catabolic process
Homolog in other species ABCA13
Omim http://omim.org/entry/607807
Immgen Expression
LOW(HIGH IN GN.BM, DC.LC.SK, MF.THIO5.II-480HI.PC, MO.6C+II-.LN)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000004668
Chromosome 11
Coordinate 9,378,226     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 77
Allele Frequency
A:R0.45
G:V0.55
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL02930
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved