SLC3A1 Chromosome 2

Solute carrier family 3 member 1
104 variants 104 Health Risk

Upload your DNA to see your personal genotypes for variants in SLC3A1.

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
RS2466021042 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS2466668103 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS368554884 Health Risk Likely pathogenic Cystine urolithiasis, Cystine urolithiasis
RS758627758 Health Risk Likely pathogenic Cystine urolithiasis, Cystinuria, See cases
RS761211666 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS776729515 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS797044609 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS121912694 Health Risk Pathogenic Cystinuria, Cystinuria
RS1324540640 Health Risk Pathogenic Cystinuria, Cystinuria
RS1361526419 Health Risk Pathogenic Cystine urolithiasis, Cystinuria, Cystine urolithiasis
RS139251285 Health Risk Pathogenic Cystinuria, Cystinuria
RS1461067691 Health Risk Pathogenic Cystinuria, Cystinuria
RS1463329071 Health Risk Pathogenic Cystinuria, Cystinuria
RS1553344107 Health Risk Pathogenic Cystinuria, Cystinuria
RS1671994225 Health Risk Pathogenic SLC3A1-related disorder, SLC3A1-related disorder
RS1672093562 Health Risk Pathogenic SLC3A1-related disorder, SLC3A1-related disorder
RS200483989 Health Risk Pathogenic Cystinuria, Autism spectrum disorder, SLC3A1-related disorder
RS2104385536 Health Risk Pathogenic Cystinuria, Cystinuria
RS2465901443 Health Risk Pathogenic Cystinuria, Cystinuria
RS2465948985 Health Risk Pathogenic Cystinuria, Cystinuria
RS2465972753 Health Risk Pathogenic Cystinuria, Cystinuria
RS2466021530 Health Risk Pathogenic Cystinuria, Cystinuria
RS2466681808 Health Risk Pathogenic Cystinuria, Cystinuria
RS368796166 Health Risk Pathogenic Cystine urolithiasis, Cystinuria, SLC3A1-related disorder
RS369603431 Health Risk Pathogenic Cystinuria, Cystinuria
RS373176089 Health Risk Pathogenic Cystine urolithiasis, Cystine urolithiasis
RS387907276 Health Risk Pathogenic Cystinuria, Cystinuria
RS542026439 Health Risk Pathogenic Cystinuria, Cystinuria
RS747035900 Health Risk Pathogenic Cystinuria, Cystinuria
RS755432720 Health Risk Pathogenic Cystinuria, Cystinuria
RS768222969 Health Risk Pathogenic Cystinuria, Cystinuria
RS768467260 Health Risk Pathogenic Cystine urolithiasis, Cystinuria, Cystine urolithiasis
RS769712061 Health Risk Pathogenic Cystine urolithiasis, Cystine urolithiasis
RS772810111 Health Risk Pathogenic Cystinuria, Cystinuria
RS777149216 Health Risk Pathogenic Cystinuria, Cystinuria
RS777575410 Health Risk Pathogenic Cystinuria, Cystinuria
RS779932118 Health Risk Pathogenic Cystinuria, Cystinuria
RS779941675 Health Risk Pathogenic Cystine urolithiasis, Cystinuria, Cystine urolithiasis
RS886042834 Health Risk Pathogenic Cystinuria, Inborn genetic diseases, Cystinuria
RS121912691 Health Risk Pathogenic/Likely pathogenic Cystinuria, See cases, Inborn genetic diseases
RS1453871309 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS1672820246 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS201376169 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS201502095 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS2104385579 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS369641941 Health Risk Pathogenic/Likely pathogenic Cystinuria, SLC3A1-related disorder, Cystinuria
RS374750983 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS567478582 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria, Cystinuria
RS765828196 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS766198611 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
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