FADS2
fatty acid desaturase 2
Summary
The protein encoded by this gene is a member of the fatty acid desaturase (FADS) gene family. Desaturase enzymes regulate unsaturation of fatty acids through the introduction of double bonds between defined carbons of the fatty acyl chain. FADS family members are considered fusion products composed of an N-terminal cytochrome b5-like domain and a C-terminal multiple membrane-spanning desaturase portion, both of which are characterized by conserved histidine motifs. This gene is clustered with family members at 11q12-q13.1; this cluster is thought to have arisen evolutionarily from gene duplication based on its similar exon/intron organization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Known Variants84 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs533623557 | 11:61,586,518 | T/A | — | — |
| rs113117978 | 11:61,586,571 | C/T | regulatory region variant | — |
| rs174564 | 11:61,588,305 | A/C | — | — |
| rs181819644 | 11:61,589,587 | G/A | upstream gene variant | — |
| rs149876506 | 11:61,589,843 | C/G | intron variant | — |
| rs174565 | 11:61,591,636 | C/T | — | — |
| rs12226877 | 11:61,591,907 | G/C | — | — |
| rs188370817 | 11:61,592,488 | C/A | upstream gene variant | — |
| rs174567 | 11:61,593,005 | A/G | upstream gene variant | — |
| rs3834458 | 11:61,594,921 | — | — | — |
| rs968567 | 11:61,595,564 | C/T | regulatory region variant | — |
| rs200209929 | 11:61,595,902 | C/T | — | uncertain significance |
| rs99780 | 11:61,596,633 | C/T | regulatory region variant | — |
| rs539903872 | 11:61,597,033 | G/A | — | — |
| rs174570 | 11:61,597,212 | C/G | — | — |
| rs1535 | 11:61,597,972 | A/T | — | — |
| rs174572 | 11:61,598,288 | C/T | regulatory region variant | — |
| rs12577069 | 11:61,600,167 | C/G | upstream gene variant | — |
| rs174574 | 11:61,600,342 | A/T | — | — |
| rs184548323 | 11:61,600,375 | C/T | upstream gene variant | — |
| rs187953679 | 11:61,600,492 | C/A | upstream gene variant | — |
| rs181223480 | 11:61,600,699 | C/T | upstream gene variant | — |
| rs139836583 | 11:61,601,260 | C/T | upstream gene variant | — |
| rs2524296 | 11:61,601,378 | C/T | upstream gene variant | — |
| rs181625867 | 11:61,601,691 | C/T | upstream gene variant | — |
| rs2845574 | 11:61,601,872 | C/T | regulatory region variant | — |
| rs174575 | 11:61,602,003 | C/G | regulatory region variant | benign |
| rs199649489 | 11:61,602,461 | A/G | — | — |
| rs570238876 | 11:61,602,810 | C/T | — | — |
| rs2727270 | 11:61,603,237 | C/T | regulatory region variant | — |
| rs2727271 | 11:61,603,358 | A/T | regulatory region variant | — |
| rs174576 | 11:61,603,510 | C/T | — | — |
| rs552768145 | 11:61,603,609 | G/A | — | — |
| rs174577 | 11:61,604,814 | C/A | intron variant | — |
| rs769154001 | 11:61,605,259 | C/T | — | uncertain significance |
| rs174578 | 11:61,605,499 | T/A | intron variant | — |
| rs75992720 | 11:61,605,578 | T/C | — | — |
| rs174579 | 11:61,605,613 | C/T | intron variant | — |
| rs174580 | 11:61,606,642 | A/T | — | — |
| rs174581 | 11:61,606,683 | G/C | — | — |
| rs2541108673 | 11:61,607,953 | A/C | — | uncertain significance |
| rs174583 | 11:61,609,750 | C/T | regulatory region variant | — |
| rs189781536 | 11:61,611,078 | G/A | intron variant | — |
| rs2526680 | 11:61,611,216 | C/T | intron variant | — |
| rs174585 | 11:61,611,694 | G/T | — | — |
| rs117702910 | 11:61,611,913 | C/G | intron variant | — |
| rs553607093 | 11:61,613,153 | T/G | — | — |
| rs189048675 | 11:61,613,225 | C/T | intron variant | — |
| rs137978092 | 11:61,613,392 | C/T | intron variant | — |
| rs180844353 | 11:61,613,393 | G/A | intron variant | — |
| rs544846106 | 11:61,613,743 | C/T | — | — |
| rs149777687 | 11:61,615,675 | C/T | — | benign |
| rs118041921 | 11:61,615,760 | C/T | — | benign |
| rs75471190 | 11:61,616,322 | A/G | intron variant | — |
| rs174592 | 11:61,618,608 | A/G | intron variant | — |
| rs540058666 | 11:61,618,662 | C/T | — | — |
| rs72643559 | 11:61,620,274 | T/G | — | — |
| rs533304276 | 11:61,620,622 | G/A | — | — |
| rs199946174 | 11:61,620,711 | T/C | — | — |
| rs174596 | 11:61,620,734 | T/C | intron variant | — |
| rs174598 | 11:61,621,194 | G/A | intron variant | — |
| rs746106499 | 11:61,622,439 | C/T | — | — |
| rs174601 | 11:61,623,140 | C/T | intron variant | — |
| rs183072205 | 11:61,624,683 | G/C | intron variant | — |
| rs498793 | 11:61,624,705 | T/C | intron variant | — |
| rs188700427 | 11:61,625,997 | A/C | intron variant | — |
| rs755594682 | 11:61,626,013 | T/A | — | — |
| rs174606 | 11:61,626,973 | G/T | intron variant | — |
| rs560586208 | 11:61,627,203 | T/A | — | — |
| rs174607 | 11:61,627,321 | G/T | — | — |
| rs174612 | 11:61,628,266 | C/G | intron variant | — |
| rs174613 | 11:61,628,492 | G/C | — | — |
| rs183164194 | 11:61,628,503 | C/T | intron variant | — |
| rs550276046 | 11:61,629,143 | A/G | — | — |
| rs174617 | 11:61,629,166 | A/G | intron variant | — |
| rs369207220 | 11:61,630,471 | A/G | — | uncertain significance |
| rs3168072 | 11:61,631,510 | A/T | intron variant | — |
| rs77466626 | 11:61,631,690 | T/C | intron variant | — |
| rs2541135030 | 11:61,632,688 | G/T | — | uncertain significance |
| rs374653405 | 11:61,632,700 | A/G | — | uncertain significance |
| rs482548 | 11:61,633,182 | C/G | — | — |
| rs77167250 | 11:61,633,947 | C/T | 3 prime UTR variant | — |
| rs113268188 | 11:61,634,829 | T/G | downstream gene variant | — |
| rs17831757 | 11:61,635,200 | T/C | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.