SLC3A1 Chromosome 2
Solute carrier family 3 member 1
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What This Gene Does
This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Solute carrier family 3
Locus Type
gene with protein product
Location
2p21
Ensembl
ENSG00000138079
Associated Conditions (9)
Cystinuria
SLC3A1-related disorder
Inborn genetic diseases
Cystine urolithiasis
See cases
Autism spectrum disorder
Kidney disorder
Nephrocalcinosis
Nephrolithiasis
Key Variants
RS115030299
Conflicting classifications of pathogenicity
Cystinuria, SLC3A1-related disorder, Cystinuria
Health Risk
RS139310305
Conflicting classifications of pathogenicity
Cystinuria, Cystinuria
Health Risk
RS140317484
Conflicting classifications of pathogenicity
Cystinuria, Cystinuria
Health Risk
RS140821819
Conflicting classifications of pathogenicity
Cystinuria, Cystinuria
Health Risk
RS1408497251
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cystinuria, Inborn genetic diseases
Health Risk
RS141587158
Conflicting classifications of pathogenicity
Cystinuria, SLC3A1-related disorder, Cystinuria
Health Risk
RS141944551
Conflicting classifications of pathogenicity
Cystinuria, Cystinuria
Health Risk
RS143068960
Conflicting classifications of pathogenicity
Cystinuria, SLC3A1-related disorder, Cystinuria
Health Risk
RS144065614
Conflicting classifications of pathogenicity
Cystinuria, Cystinuria
Health Risk
RS144162964
Conflicting classifications of pathogenicity
Cystinuria, Cystinuria
Health Risk
RS146630359
Conflicting classifications of pathogenicity
Cystinuria, Cystinuria
Health Risk
RS146963107
Conflicting classifications of pathogenicity
Cystinuria, Cystinuria
Health Risk
All Variants (104)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS767801148 | Health Risk | Pathogenic/Likely pathogenic | Cystinuria, Cystinuria |
| RS775827496 | Health Risk | Pathogenic/Likely pathogenic | Cystinuria, SLC3A1-related disorder, Cystinuria |
| RS778000327 | Health Risk | Pathogenic/Likely pathogenic | Nephrocalcinosis, Nephrolithiasis, Cystinuria |
| RS778354350 | Health Risk | Pathogenic/Likely pathogenic | Cystinuria, Cystinuria |