Slc6a7 - SNV Details



 Gene Information 
Gene Name Slc6a7
Old Gene Names for Slc6a7 Aw455934
Gene Description solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 [Source:MGI Symbol;Acc:MGI:2147363]
Uniprot Name
CCDS Name
Gene GO
neurotransmitter transport; integral component of membrane; transmembrane transport; neurotransmitter:sodium symporter activity; amino acid transport
Homolog in other species SLC6A7
Omim http://omim.org/entry/606205
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000052026
Chromosome 18
Coordinate 61,001,291     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 28
Allele Frequency
C:R0.64
T:V0.36
Amino Acid Change Disrupted splicing
Splice Position 1
Sample ID IGL00433
Median Base Quality 35
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 37 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved