Slc5a4b - SNV Details



 Gene Information 
Gene Name Slc5a4b
Old Gene Names for Slc5a4b 2010104g07rik
Gene Description solute carrier family 5 (neutral amino acid transporters, system A), member 4b [Source:MGI Symbol;Acc:MGI:1890478]
Uniprot Name
CCDS Name
Gene GO
membrane; integral to membrane; transporter activity; glucose transport; transport; transmembrane transport; cation:sugar symporter activity; carbohydrate transport; sodium ion transport
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
LOW/MEDIAN(HIGH IN LARGEINTESTINE, SMALLINTESTINE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020226
Chromosome 10
Coordinate 76,060,426     (Assembly: GRCm38)    
Ref Base T
Codon Change aAc/aGc
Var Base C
Zygosity Heterozygous
Read Depth 24
Allele Frequency
T:R0.50
C:V0.50
Amino Acid Position 565
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL01904
Median Base Quality 39.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 25 Other Mutations

 Predictions 
Polyphen Score 0.95
Polyphen Prediction Possibly damaging
Sift Score 0.1
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved