Slc6a18 - SNV Details



 Human Rare Diseases 
Iminoglycinuria

 Gene Information 
Gene Name Slc6a18
Old Gene Names for Slc6a18 D630001k16rik , Xtrp2
Gene Description solute carrier family 6 (neurotransmitter transporter), member 18 [Source:MGI Symbol;Acc:MGI:1336892]
MGI phenotype Homozygous null mice are overtly normal but have increased blood pressure associated with impaired renal accumulation of glycine.
Uniprot Name
CCDS Name
Gene GO
neurotransmitter transport; integral to membrane; transporter activity; integral to plasma membrane; response to osmotic stress; transport; plasma membrane; neurotransmitter:sodium symporter activity; amino acid transport
Homolog in other species SLC6A18
Omim http://omim.org/entry/610300
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
LOW/MEDIAN(HIGH IN KIDNEY, LIVER, BLASTOCYSTS, GI GROUP)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000021612
Chromosome 13
Coordinate 73,666,472     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 27
Allele Frequency
T:R0.48
C:V0.52
Amino Acid Change Disrupted splicing
Splice Position 2
Sample ID IGL02167
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved