Gene entry
SLC6A8
solute carrier family 6 member 8
- Chromosome
- X
- Cytoband
- Xq28
- Variants (rsID)
- 5
SLC6A8 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq28). Its official name is “solute carrier family 6 member 8”. The reference table lists 5 variants (rsID) for this gene.
Clinically classified variants
4 reference-table entries with clinical significance.
- rs376385129Benignsingle nucleotide variantCreatine transporter deficiency
- rs122453117Pathogenicsingle nucleotide variantCreatine transporter deficiency
- rs122453118Pathogenicsingle nucleotide variantCreatine transporter deficiency
- rs80338739PathogenicMicrosatelliteCreatine transporter deficiency|Inborn genetic diseases
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.