Abcb5 - SNV Details



 Gene Information 
Gene Name Abcb5
Old Gene Names for Abcb5 9230106f14rik
Gene Description ATP-binding cassette, sub-family B (MDR/TAP), member 5 [Source:MGI Symbol;Acc:MGI:1924956]
Uniprot Name
CCDS Name
Gene GO
ATPase activity; efflux transmembrane transporter activity; Golgi membrane; integral to membrane; apical plasma membrane; integral to plasma membrane; nucleoside-triphosphatase activity; transport; nucleotide binding; ATPase activity
coupled to transmembrane movement of substances; transmembrane transport; ATP binding; intercellular canaliculus; regulation of membrane potential
Homolog in other species ABCB5
Omim http://omim.org/entry/611785
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
LOW
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000072791
Chromosome 12
Coordinate 118,890,610     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 25
Allele Frequency
T:R0.52
C:V0.48
Amino Acid Change T->A (Threonine -> Alanine)
Sample ID IGL00090
Median Base Quality 36
Backgrounds C57BL/6j
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 
Polyphen Score 0.01
Polyphen Prediction Benign
Druggable Yes, View known drug interactions

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved