Abca17 - SNV Details



 Gene Information 
Gene Name Abca17
Gene Description ATP-binding cassette, sub-family A (ABC1), member 17 [Source:MGI Symbol;Acc:MGI:3625331]
Uniprot Name
CCDS Name
Gene GO
ATPase activity; endoplasmic reticulum; nucleoside-triphosphatase activity; neutral lipid metabolic process; nucleotide binding; ATP binding; molecular_function
Homolog in other species ABCA17P
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGHER IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000035435
Chromosome 17
Coordinate 24,287,793     (Assembly: GRCm38)    
Ref Base C
Codon Change Gtg/Ttg
Var Base A
Zygosity Heterozygous
Read Depth 20
Allele Frequency
C:R0.60
A:V0.40
Amino Acid Position 1196
Amino Acid Change V->L (Valine -> Leucine)
Sample ID IGL02368
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0.04
Polyphen Prediction Benign
Sift Score 0.43
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved