SLC6A9 Chromosome 1
Solute carrier family 6 member 9
Upload your DNA to see your personal genotypes for variants in SLC6A9.
What This Gene Does
The amino acid glycine acts as an inhibitory neurotransmitter in the central nervous system. The protein encoded by this gene is one of two transporters that stop glycine signaling by removing it from the synaptic cleft. [provided by RefSeq, Jun 2016]
Gene Info
Gene Group
Solute carrier family 6
Locus Type
gene with protein product
Location
1p34.1
Ensembl
ENSG00000196517
Associated Conditions (2)
Atypical glycine encephalopathy
Inborn genetic diseases
Key Variants
RS1043442244
Conflicting classifications of pathogenicity
Atypical glycine encephalopathy, Atypical glycine encephalopathy
Health Risk
RS146175246
Conflicting classifications of pathogenicity
Atypical glycine encephalopathy, Atypical glycine encephalopathy
Health Risk
RS200633191
Conflicting classifications of pathogenicity
Atypical glycine encephalopathy, Inborn genetic diseases, Atypical glycine encephalopathy
Health Risk
RS201267211
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201812410
Conflicting classifications of pathogenicity
Atypical glycine encephalopathy, Inborn genetic diseases, Atypical glycine encephalopathy
Health Risk
RS1553160504
Likely pathogenic
Health Risk
RS2154305890
Likely pathogenic
Atypical glycine encephalopathy, Atypical glycine encephalopathy
Health Risk
RS2154306852
Likely pathogenic
Atypical glycine encephalopathy, Atypical glycine encephalopathy
Health Risk
RS746910535
Likely pathogenic
Atypical glycine encephalopathy, Atypical glycine encephalopathy
Health Risk
RS1057519313
Pathogenic
Atypical glycine encephalopathy, Atypical glycine encephalopathy
Health Risk
RS1057519314
Pathogenic
Atypical glycine encephalopathy, Atypical glycine encephalopathy
Health Risk
RS1057519315
Pathogenic
Atypical glycine encephalopathy, Atypical glycine encephalopathy
Health Risk
All Variants (14)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1043442244 | Health Risk | Conflicting classifications of pathogenicity | Atypical glycine encephalopathy, Atypical glycine encephalopathy |
| RS146175246 | Health Risk | Conflicting classifications of pathogenicity | Atypical glycine encephalopathy, Atypical glycine encephalopathy |
| RS200633191 | Health Risk | Conflicting classifications of pathogenicity | Atypical glycine encephalopathy, Inborn genetic diseases, Atypical glycine encephalopathy |
| RS201267211 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201812410 | Health Risk | Conflicting classifications of pathogenicity | Atypical glycine encephalopathy, Inborn genetic diseases, Atypical glycine encephalopathy |
| RS1553160504 | Health Risk | Likely pathogenic | — |
| RS2154305890 | Health Risk | Likely pathogenic | Atypical glycine encephalopathy, Atypical glycine encephalopathy |
| RS2154306852 | Health Risk | Likely pathogenic | Atypical glycine encephalopathy, Atypical glycine encephalopathy |
| RS746910535 | Health Risk | Likely pathogenic | Atypical glycine encephalopathy, Atypical glycine encephalopathy |
| RS1057519313 | Health Risk | Pathogenic | Atypical glycine encephalopathy, Atypical glycine encephalopathy |
| RS1057519314 | Health Risk | Pathogenic | Atypical glycine encephalopathy, Atypical glycine encephalopathy |
| RS1057519315 | Health Risk | Pathogenic | Atypical glycine encephalopathy, Atypical glycine encephalopathy |
| RS2086575319 | Health Risk | Pathogenic | Atypical glycine encephalopathy, Atypical glycine encephalopathy |
| RS201437896 | Health Risk | Pathogenic/Likely pathogenic | Atypical glycine encephalopathy, Atypical glycine encephalopathy |