ACOX2
acyl-CoA oxidase 2
Summary
The product of this gene belongs to the acyl-CoA oxidase family. It encodes the branched-chain acyl-CoA oxidase which is involved in the degradation of long branched fatty acids and bile acid intermediates in peroxisomes. Deficiency of this enzyme results in the accumulation of branched fatty acids and bile acid intermediates, and may lead to Zellweger syndrome, severe cognitive disability, and death in children. [provided by RefSeq, Mar 2009]
Known Variants194 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs769731964 | 3:58,490,941 | G/A | — | likely benign |
| rs1225640784 | 3:58,490,998 | C/T | — | uncertain significance |
| rs2471437232 | 3:58,491,002 | G/A | — | likely benign |
| rs2471437236 | 3:58,491,003 | G/T | — | uncertain significance |
| rs1576982727 | 3:58,491,005 | A/C | — | likely benign |
| rs2471437250 | 3:58,491,008 | G/A | — | likely benign |
| rs767016709 | 3:58,491,022 | A/G | — | likely benign |
| rs200767808 | 3:58,491,031 | C/T | — | likely benign |
| rs187194712 | 3:58,494,613 | C/G | — | likely benign |
| rs573721661 | 3:58,494,671 | G/A | — | likely benign |
| rs1181477921 | 3:58,494,676 | C/T | — | uncertain significance |
| rs371093489 | 3:58,494,680 | A/G | — | likely benign |
| rs745872186 | 3:58,494,701 | T/G | — | uncertain significance |
| rs542643101 | 3:58,494,708 | T/C | — | uncertain significance |
| rs2471441908 | 3:58,494,751 | T/C | — | uncertain significance |
| rs1479432823 | 3:58,494,756 | G/A | — | likely benign |
| rs756958019 | 3:58,502,933 | C/T | — | uncertain significance |
| rs143133121 | 3:58,502,943 | G/A | — | benign |
| rs776395124 | 3:58,502,962 | T/C | — | likely benign |
| rs762498699 | 3:58,502,976 | C/T | — | uncertain significance |
| rs140407587 | 3:58,502,999 | G/C | — | conflicting classifications of pathogenicity |
| rs142302007 | 3:58,503,001 | G/A | — | likely benign |
| rs144682871 | 3:58,503,019 | C/T | — | likely benign |
| rs755009415 | 3:58,503,022 | G/C | — | uncertain significance |
| rs769586511 | 3:58,503,062 | C/T | — | uncertain significance |
| rs151184272 | 3:58,503,063 | G/A | — | conflicting classifications of pathogenicity |
| rs1386990681 | 3:58,503,064 | C/G | — | uncertain significance |
| rs538107717 | 3:58,503,083 | G/A | — | uncertain significance |
| rs141585104 | 3:58,503,090 | C/G | — | uncertain significance |
| rs147528626 | 3:58,503,131 | G/A | — | uncertain significance |
| rs758835916 | 3:58,503,136 | A/G | — | likely benign |
| rs748931754 | 3:58,503,152 | T/C | — | uncertain significance |
| rs758990397 | 3:58,508,207 | G/C | — | likely benign |
| rs764046245 | 3:58,508,208 | C/A | — | likely benign |
| rs369423956 | 3:58,508,216 | C/T | — | likely benign |
| rs201210623 | 3:58,508,217 | G/A | — | uncertain significance |
| rs2471460112 | 3:58,508,253 | C/T | — | likely benign |
| rs548973247 | 3:58,508,268 | G/A | — | likely benign |
| rs143228600 | 3:58,508,273 | G/C | — | uncertain significance |
| rs573413825 | 3:58,508,290 | G/A | — | likely benign |
| rs756400293 | 3:58,508,318 | C/T | — | uncertain significance |
| rs752559593 | 3:58,508,327 | G/A | — | uncertain significance |
| rs145582569 | 3:58,510,153 | C/A | — | uncertain significance |
| rs748955764 | 3:58,510,192 | G/A | — | uncertain significance |
| rs200510630 | 3:58,510,194 | G/A | — | benign |
| rs762372178 | 3:58,510,205 | C/T | — | uncertain significance |
| rs1218415125 | 3:58,510,206 | G/A | — | likely benign |
| rs759724683 | 3:58,510,244 | C/T | — | uncertain significance |
| rs1460753226 | 3:58,510,254 | T/C | — | likely benign |
| rs573978562 | 3:58,510,257 | G/A | — | likely benign |
| rs2471466182 | 3:58,512,183 | T/C | — | likely benign |
| rs945530299 | 3:58,512,185 | G/C | — | likely benign |
| rs2108003677 | 3:58,512,186 | A/G | — | likely benign |
| rs755002165 | 3:58,512,198 | C/T | — | likely benign |
| rs112570370 | 3:58,512,210 | G/A | — | likely benign |
| rs2108003752 | 3:58,512,212 | G/A | — | uncertain significance |
| rs769932022 | 3:58,512,231 | G/A | — | likely benign |
| rs1127745 | 3:58,512,237 | A/G | — | benign |
| rs772915511 | 3:58,512,246 | C/T | — | likely benign |
| rs760613442 | 3:58,512,247 | G/A | — | uncertain significance |
| rs766243451 | 3:58,512,249 | C/T | — | likely benign |
| rs13097249 | 3:58,512,285 | C/T | — | benign |
| rs2063396543 | 3:58,512,293 | C/A | — | uncertain significance |
| rs2063396569 | 3:58,512,294 | A/T | — | uncertain significance |
| rs746437214 | 3:58,512,313 | C/T | — | uncertain significance |
| rs530318063 | 3:58,512,314 | G/A | — | uncertain significance |
| rs142358437 | 3:58,512,323 | C/G | — | uncertain significance |
| rs773003921 | 3:58,512,330 | C/T | — | likely benign |
| rs200815295 | 3:58,512,353 | T/C | — | likely benign |
| rs1286183218 | 3:58,512,368 | T/A | — | uncertain significance |
| rs1127743 | 3:58,512,375 | T/C | — | benign |
| rs747031412 | 3:58,512,378 | G/A | — | likely benign |
| rs374565538 | 3:58,512,386 | G/C | — | uncertain significance |
| rs367613877 | 3:58,512,394 | A/G | — | likely benign |
| rs2108004164 | 3:58,512,397 | G/A | — | likely benign |
| rs370154949 | 3:58,512,400 | G/A | — | likely benign |
| rs368167176 | 3:58,514,505 | C/T | — | likely benign |
| rs1443947583 | 3:58,514,507 | C/T | — | likely benign |
| rs2063415392 | 3:58,514,526 | G/A | — | uncertain significance |
| rs145470450 | 3:58,514,586 | G/C | — | uncertain significance |
| rs550491341 | 3:58,514,589 | T/A | — | uncertain significance |
| rs1008593157 | 3:58,514,609 | G/C | — | uncertain significance |
| rs143498606 | 3:58,514,623 | C/T | — | likely benign |
| rs779944123 | 3:58,514,624 | A/G | — | uncertain significance |
| rs189883231 | 3:58,516,173 | A/G | — | likely benign |
| rs142158459 | 3:58,516,180 | G/A | — | benign |
| rs753683458 | 3:58,516,187 | C/T | — | uncertain significance |
| rs778909114 | 3:58,516,199 | C/T | — | uncertain significance |
| rs138459863 | 3:58,516,206 | G/A | — | uncertain significance |
| rs562573238 | 3:58,516,217 | C/T | — | uncertain significance |
| rs941553281 | 3:58,516,218 | G/A | — | uncertain significance |
| rs776048382 | 3:58,516,221 | T/C | — | uncertain significance |
| rs147316315 | 3:58,516,232 | C/T | — | uncertain significance |
| rs201115263 | 3:58,516,233 | G/A | — | uncertain significance |
| rs112279882 | 3:58,516,239 | C/T | — | likely benign |
| rs1346947457 | 3:58,516,258 | C/T | — | likely benign |
| rs2471473679 | 3:58,516,280 | G/A | — | likely benign |
| rs377280329 | 3:58,516,299 | C/T | — | uncertain significance |
| rs181768469 | 3:58,516,318 | G/A | — | benign |
| rs143508132 | 3:58,516,335 | C/T | — | likely benign |
Showing 100 of 194 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.