SLC38A3 Chromosome 3
Solute carrier family 38 member 3
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What This Gene Does
Enables L-amino acid transmembrane transporter activity. Involved in carboxylic acid transport. Located in plasma membrane. Implicated in developmental and epileptic encephalopathy 102. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Solute carrier family 38
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000188338
Associated Conditions (1)
Developmental and epileptic encephalopathy 102
Key Variants
RS2109159077
Likely pathogenic
Developmental and epileptic encephalopathy 102, Developmental and epileptic encephalopathy 102
Health Risk
RS1368316485
Pathogenic
Developmental and epileptic encephalopathy 102, Developmental and epileptic encephalopathy 102
Health Risk
RS1437118005
Pathogenic
Developmental and epileptic encephalopathy 102, Developmental and epileptic encephalopathy 102
Health Risk
RS2109157808
Pathogenic
Developmental and epileptic encephalopathy 102, Developmental and epileptic encephalopathy 102
Health Risk
RS2109158868
Pathogenic
Developmental and epileptic encephalopathy 102, Developmental and epileptic encephalopathy 102
Health Risk
RS2109158872
Pathogenic
Developmental and epileptic encephalopathy 102, Developmental and epileptic encephalopathy 102
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2109159077 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy 102, Developmental and epileptic encephalopathy 102 |
| RS1368316485 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 102, Developmental and epileptic encephalopathy 102 |
| RS1437118005 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 102, Developmental and epileptic encephalopathy 102 |
| RS2109157808 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 102, Developmental and epileptic encephalopathy 102 |
| RS2109158868 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 102, Developmental and epileptic encephalopathy 102 |
| RS2109158872 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy 102, Developmental and epileptic encephalopathy 102 |