Gene entry
SPTLC2
serine palmitoyltransferase long chain base subunit 2
- Chromosome
- 14
- Cytoband
- 14q24.3
- Variants (rsID)
- 29
SPTLC2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q24.3). Its official name is “serine palmitoyltransferase long chain base subunit 2”. The reference table lists 29 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs1063271Benignsingle nucleotide variantNeuropathy, hereditary sensory and autonomic, type 1C
- rs138652708Benignsingle nucleotide variantNeuropathy, hereditary sensory and autonomic, type 1C
- rs199867946Conflicting interpretationssingle nucleotide variantNeuropathy, hereditary sensory and autonomic, type 1C
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.