SLC7A3 Chromosome X
Solute carrier family 7 member 3
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What This Gene Does
This gene encodes a member of the solute carrier family 7. The encoded protein is a sodium-independent cationic amino acid transporter. Alternate splicing results in multiple transcripts that encoded the same protein.[provided by RefSeq, May 2010]
Gene Info
Gene Group
Solute carrier family 7
Locus Type
gene with protein product
Location
Xq13.1
Ensembl
ENSG00000165349
Associated Conditions (1)
SLC7A3-related disorder
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149447856 | Health Risk | Conflicting classifications of pathogenicity | SLC7A3-related disorder, SLC7A3-related disorder |