Slc36a1 - SNV Details



 Gene Information 
Gene Name Slc36a1
Old Gene Names for Slc36a1 5830411h19rik , Ai839897
Gene Description solute carrier family 36 (proton/amino acid symporter), member 1 [Source:MGI Symbol;Acc:MGI:2445299]
Uniprot Name
CCDS Name
Gene GO
proline transport; hydrogen ion transmembrane transporter activity; neutral amino acid transport; integral to membrane; lysosomal membrane; endoplasmic reticulum; proline transmembrane transport; lysosome; proton transport; glycine transport; L-alanine transport; glycine transmembrane transporter activity; plasma membrane; L-proline transmembrane transporter activity; L-alanine transmembrane transporter activity; symporter activity
Homolog in other species SLC36A1
Omim http://omim.org/entry/606561
Immgen Expression
MEDIAN(HIGH IN TGD.VG5+.ACT.IEL, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, DC.LC.SK, MYELOID GROUP)
Gnf Expression
MEDIAN
HIGH(HIGHER IN IMM GROUP, NS GROUPS)
HIGH(HIGHER IN IMM GROUP, NS GROUPS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020261
Chromosome 11
Coordinate 55,228,321     (Assembly: GRCm38)    
Ref Base A
Codon Change gAc/gGc
Var Base G
Zygosity Heterozygous
Read Depth 191
Allele Frequency
A:R0.57
G:V0.44
Amino Acid Position 374
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL01653
Median Base Quality 36
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.1
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000104500:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Amino acid transporter, transmembrane AA_transpt_TM IPR013057 ENSMUSP00000104500 Pfam 46
453 Description available Search pathways

 Availability Details 
Availability