SPTLC3
serine palmitoyltransferase long chain base subunit 3
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]
Known Variants81 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs360536 | 20:12,987,644 | C/T | regulatory region variant | — |
| rs184856 | 20:12,987,940 | A/G | regulatory region variant | — |
| rs360532 | 20:12,988,904 | C/T | upstream gene variant | — |
| rs140139505 | 20:12,990,016 | T/A | — | uncertain significance |
| rs1475878027 | 20:12,990,018 | G/A | — | uncertain significance |
| rs360530 | 20:12,990,265 | C/T | regulatory region variant | — |
| rs415347 | 20:12,990,482 | A/T | regulatory region variant | — |
| rs360527 | 20:12,991,110 | A/G | intron variant | — |
| rs3859618 | 20:12,993,518 | A/G | intron variant | — |
| rs6078878 | 20:12,994,002 | T/G | intron variant | — |
| rs6078880 | 20:12,994,044 | G/A | — | — |
| rs4814181 | 20:12,994,487 | T/A | — | — |
| rs4813105 | 20:12,997,479 | A/G | intron variant | — |
| rs3843768 | 20:12,999,063 | T/G | — | — |
| rs3848764 | 20:12,999,538 | T/A | — | — |
| rs3848765 | 20:12,999,563 | C/T | intron variant | — |
| rs6078882 | 20:12,999,709 | T/C | intron variant | — |
| rs6131420 | 20:12,999,835 | A/T | intron variant | — |
| rs6074546 | 20:13,000,258 | C/A | — | — |
| rs6078884 | 20:13,000,352 | T/G | intron variant | — |
| rs6078885 | 20:13,000,377 | A/C | — | — |
| rs3843769 | 20:13,000,827 | G/C | intron variant | — |
| rs3848766 | 20:13,001,117 | C/T | — | — |
| rs2327448 | 20:13,001,216 | A/G | intron variant | — |
| rs2876238 | 20:13,001,253 | T/A | intron variant | — |
| rs360525 | 20:13,001,292 | G/T | — | — |
| rs2327447 | 20:13,001,364 | C/A | intron variant | — |
| rs2327445 | 20:13,001,588 | A/G | intron variant | — |
| rs6033574 | 20:13,005,069 | A/T | intron variant | — |
| rs17226320 | 20:13,015,975 | T/G | regulatory region variant | — |
| rs188440264 | 20:13,028,802 | A/G | — | — |
| rs374808387 | 20:13,029,605 | C/G | — | uncertain significance |
| rs368969298 | 20:13,029,627 | T/C | — | uncertain significance |
| rs757704377 | 20:13,029,746 | T/G | — | uncertain significance |
| rs62201721 | 20:13,032,094 | T/C | intron variant | — |
| rs6041824 | 20:13,037,681 | C/T | — | — |
| rs6041825 | 20:13,037,684 | G/C | intron variant | — |
| rs891660 | 20:13,039,022 | G/A | intron variant | — |
| rs891661 | 20:13,039,029 | A/G | intron variant | — |
| rs6514359 | 20:13,039,522 | C/G | regulatory region variant | — |
| rs6514361 | 20:13,039,810 | T/C | regulatory region variant | — |
| rs7269660 | 20:13,045,949 | C/A | — | — |
| rs7264291 | 20:13,046,037 | T/G | intron variant | — |
| rs56155938 | 20:13,046,104 | G/A | intron variant | — |
| rs34899016 | 20:13,046,318 | T/G | intron variant | — |
| rs6109680 | 20:13,046,591 | T/G | intron variant | — |
| rs6109681 | 20:13,047,504 | C/T | intron variant | — |
| rs7268756 | 20:13,050,266 | G/C | — | — |
| rs3843770 | 20:13,052,002 | C/T | downstream gene variant | — |
| rs755919784 | 20:13,053,048 | T/C | missense variant | pathogenic |
| rs751680123 | 20:13,055,015 | C/G | — | uncertain significance |
| rs2514745070 | 20:13,055,019 | G/T | — | uncertain significance |
| rs780109586 | 20:13,074,182 | G/T | — | uncertain significance |
| rs377121180 | 20:13,074,201 | C/T | — | uncertain significance |
| rs12479691 | 20:13,082,473 | C/T | regulatory region variant | — |
| rs547828339 | 20:13,090,818 | C/T | — | uncertain significance |
| rs61746220 | 20:13,090,819 | G/A | — | uncertain significance |
| rs761133600 | 20:13,090,845 | C/G | — | uncertain significance |
| rs2514822230 | 20:13,098,188 | T/G | — | uncertain significance |
| rs368681240 | 20:13,098,250 | G/A | — | uncertain significance |
| rs758525525 | 20:13,098,266 | G/A | — | uncertain significance |
| rs200043425 | 20:13,098,275 | C/T | — | uncertain significance |
| rs2514822779 | 20:13,098,292 | G/T | — | uncertain significance |
| rs376119290 | 20:13,098,294 | C/A | — | uncertain significance |
| rs2514822878 | 20:13,098,313 | C/A | — | uncertain significance |
| rs541435501 | 20:13,098,323 | C/T | — | uncertain significance |
| rs369416718 | 20:13,107,244 | G/A | — | uncertain significance |
| rs773287063 | 20:13,107,302 | C/T | — | uncertain significance |
| rs146074701 | 20:13,109,833 | G/A | intron variant | — |
| rs17190927 | 20:13,123,733 | T/G | intron variant | — |
| rs960905811 | 20:13,140,687 | G/A | — | uncertain significance |
| rs559367006 | 20:13,140,696 | G/A | — | uncertain significance |
| rs936598944 | 20:13,140,735 | C/T | — | uncertain significance |
| rs752474220 | 20:13,140,736 | G/A | — | uncertain significance |
| rs772611884 | 20:13,140,778 | C/T | — | uncertain significance |
| rs1211154882 | 20:13,145,402 | T/A | — | uncertain significance |
| rs2123019165 | 20:13,145,411 | C/T | — | uncertain significance |
| rs921113217 | 20:13,145,444 | A/G | — | uncertain significance |
| rs200308499 | 20:13,145,471 | G/A | — | uncertain significance |
| rs202095885 | 20:13,145,506 | G/A | — | uncertain significance |
| rs2144134 | 20:13,148,152 | C/G | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.