SLC1A3 Chromosome 5
Solute carrier family 1 member 3
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What This Gene Does
This gene encodes a member of a member of a high affinity glutamate transporter family. This gene functions in the termination of excitatory neurotransmission in central nervous system. Mutations are associated with episodic ataxia, Type 6. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2014]
Gene Info
Gene Group
Solute carrier family 1
Locus Type
gene with protein product
Location
5p13.2
Ensembl
ENSG00000079215
Associated Conditions (2)
Episodic ataxia type 6
Inborn genetic diseases
Key Variants
RS138085358
Conflicting classifications of pathogenicity
Episodic ataxia type 6, Episodic ataxia type 6
Health Risk
RS138559945
Conflicting classifications of pathogenicity
Health Risk
RS146929198
Conflicting classifications of pathogenicity
Health Risk
RS146939026
Conflicting classifications of pathogenicity
Episodic ataxia type 6, Episodic ataxia type 6
Health Risk
RS148490778
Conflicting classifications of pathogenicity
Episodic ataxia type 6, Episodic ataxia type 6
Health Risk
RS182371422
Conflicting classifications of pathogenicity
Episodic ataxia type 6, Episodic ataxia type 6
Health Risk
RS200243548
Conflicting classifications of pathogenicity
Episodic ataxia type 6, Episodic ataxia type 6
Health Risk
RS200947079
Conflicting classifications of pathogenicity
Episodic ataxia type 6, Episodic ataxia type 6
Health Risk
RS201765665
Conflicting classifications of pathogenicity
Episodic ataxia type 6, Episodic ataxia type 6
Health Risk
RS375527461
Conflicting classifications of pathogenicity
Episodic ataxia type 6, Episodic ataxia type 6
Health Risk
RS528899789
Conflicting classifications of pathogenicity
Health Risk
RS530235885
Conflicting classifications of pathogenicity
Episodic ataxia type 6, Episodic ataxia type 6
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138085358 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 6, Episodic ataxia type 6 |
| RS138559945 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146929198 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146939026 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 6, Episodic ataxia type 6 |
| RS148490778 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 6, Episodic ataxia type 6 |
| RS182371422 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 6, Episodic ataxia type 6 |
| RS200243548 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 6, Episodic ataxia type 6 |
| RS200947079 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 6, Episodic ataxia type 6 |
| RS201765665 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 6, Episodic ataxia type 6 |
| RS375527461 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 6, Episodic ataxia type 6 |
| RS528899789 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS530235885 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 6, Episodic ataxia type 6 |
| RS547834086 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753745170 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754571819 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 6, Episodic ataxia type 6 |
| RS761842691 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 6, Episodic ataxia type 6 |
| RS772789166 | Health Risk | Conflicting classifications of pathogenicity | Episodic ataxia type 6, Episodic ataxia type 6 |
| RS137852619 | Health Risk | Pathogenic | Episodic ataxia type 6, Episodic ataxia type 6 |
| RS137852620 | Health Risk | Pathogenic | Episodic ataxia type 6, Episodic ataxia type 6 |