Slc30a2 - SNV Details



 Gene Information 
Gene Name Slc30a2
Old Gene Names for Slc30a2 Znt2
Gene Description solute carrier family 30 (zinc transporter), member 2 [Source:MGI Symbol;Acc:MGI:106637]
Uniprot Name
CCDS Name
Gene GO
cation transmembrane transporter activity; endosome membrane; integral to membrane; zinc ion transmembrane transporter activity; positive regulation of sequestering of zinc ion; vacuolar membrane; late endosome; cation transport; transmembrane transport; cytoplasmic part; cytoplasmic membrane-bounded vesicle
Homolog in other species SLC30A2
Omim http://omim.org/entry/609617
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN(HIGHER IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028836
Chromosome 4
Coordinate 134,343,300     (Assembly: GRCm38)    
Ref Base A
Codon Change gAc/gTc
Var Base T
Zygosity Heterozygous
Read Depth 16
Allele Frequency
A:R0.50
T:V0.50
Amino Acid Position 5
Amino Acid Change D->V (Aspartic acid -> Valine)
Sample ID IGL01321
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0.44
Polyphen Prediction Possibly damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved