| Entrez Gene ID | 55304 |
|---|---|
| Official Gene Symbol | SPTLC3 (GeneCards) |
| Full name | serine palmitoyltransferase long chain base subunit 3 |
| Location | 20p12.1 |
| Other ids | Vega : OTTHUMG00000031899 MIM : 611120 HGNC : HGNC:16253 Ensembl : ENSG00000172296 |
| Other names | LCB3, SPT3, LCB3, LCB2B, SPT3, hLCB2b, SPTLC2L, C20orf38, dJ718P11, dJ718P11.1 |
| Summary | This gene encodes a subunit of the serine palmitoyltransferase complex which catalyzes the rate-limiting step in sphingolipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and generates C14 and C16-sphingoid bases. [provided by RefSeq, Mar 2017] |
Found 7 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 21404 | 55304 | SPTLC3 | 20 | 13040336 | 13040336 | Asymptomatic | HiSeq X Ten |
| 21464 | 55304 | SPTLC3 | 20 | 13106450 | 13106450 | Cockayne syndrome | HiSeq X Ten |
| 21511 | 55304 | SPTLC3 | 20 | 13079535 | 13079535 | Cockayne syndrome | HiSeq X Ten |
| 24043 | 55304 | SPTLC3 | 20 | 13030628 | 13030628 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 28585 | 55304 | SPTLC3 | 20 | 13161069 | 13161069 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 28597 | 55304 | SPTLC3 | 20 | 12988902 | 12988902 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
| 28598 | 55304 | SPTLC3 | 20 | 13145463 | 13145463 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |