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; integral to membrane; nucleoside-triphosphatase activity; cellular_component; transport; nucleotide binding; ATP binding; biological_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 9,267,565     (Assembly: GRCm38)    
Ref Base T
Codon Change Tca/Cca
Var Base C
Zygosity Heterozygous
Read Depth 21
Allele Frequency
T:R0.52
C:V0.48
Amino Acid Position 336
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL01351
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 39 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved