ENOSF1
enolase superfamily member 1
Summary
This gene can encode a mitochondrial enzyme that is thought to convert L-fuconate to 2-keto-3-deoxy-L-fuconate. This locus was originally identified as the source of antisense RNAs of the adjacent thymidylate synthase gene. Splice variants at this locus may contain an alternate 3' exon that is complementary to the 3'UTR and terminal intron of the thymidylate synthase (TS) RNA and may downregulate TS expression. [provided by RefSeq, Aug 2017]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs750805379 | 18:674,324 | A/C | — | uncertain significance |
| rs3819102 | 18:675,307 | A/G | downstream gene variant | — |
| rs766984806 | 18:675,338 | A/G | — | uncertain significance |
| rs1295937924 | 18:675,343 | C/T | — | likely benign |
| rs200707696 | 18:675,344 | G/A | — | uncertain significance |
| rs779756728 | 18:675,346 | T/G | — | uncertain significance |
| rs774860316 | 18:675,356 | C/G | — | uncertain significance |
| rs495139 | 18:676,008 | G/A | — | — |
| rs2847326 | 18:676,228 | T/A | downstream gene variant | — |
| rs2612101 | 18:676,473 | C/T | downstream gene variant | — |
| rs10502289 | 18:676,789 | A/T | downstream gene variant | — |
| rs2298583 | 18:677,302 | G/A | downstream gene variant | — |
| rs200409562 | 18:677,381 | A/G | — | uncertain significance |
| rs555387034 | 18:677,408 | C/G | — | uncertain significance |
| rs145955718 | 18:677,418 | C/T | — | uncertain significance |
| rs190795784 | 18:677,452 | G/A | — | likely benign |
| rs372512313 | 18:677,773 | A/G | — | uncertain significance |
| rs754289185 | 18:677,811 | A/G | — | uncertain significance |
| rs1322126981 | 18:677,842 | G/T | — | uncertain significance |
| rs2298581 | 18:677,931 | C/G | regulatory region variant | — |
| rs2847324 | 18:679,637 | T/C | intron variant | — |
| rs2847607 | 18:681,724 | C/A | — | — |
| rs772481759 | 18:683,338 | C/T | — | uncertain significance |
| rs376721481 | 18:683,343 | G/A | — | uncertain significance |
| rs763566289 | 18:683,377 | T/A | — | uncertain significance |
| rs757142346 | 18:683,380 | T/C | — | uncertain significance |
| rs2612091 | 18:683,607 | C/T | intron variant | — |
| rs766220285 | 18:685,934 | G/A | — | uncertain significance |
| rs374752244 | 18:688,586 | T/C | — | uncertain significance |
| rs1286001366 | 18:688,592 | A/G | — | uncertain significance |
| rs1412055306 | 18:690,587 | A/T | — | uncertain significance |
| rs780093389 | 18:690,589 | G/A | — | uncertain significance |
| rs1215316751 | 18:690,605 | G/T | — | uncertain significance |
| rs766467725 | 18:690,613 | T/C | — | uncertain significance |
| rs2510391429 | 18:690,622 | A/G | — | uncertain significance |
| rs2077110059 | 18:691,083 | C/G | — | uncertain significance |
| rs762326635 | 18:691,213 | C/T | — | uncertain significance |
| rs377711094 | 18:691,231 | C/G | — | uncertain significance |
| rs753249529 | 18:691,241 | C/G | — | uncertain significance |
| rs1361855699 | 18:697,247 | A/C | — | uncertain significance |
| rs201104611 | 18:697,295 | A/C | — | uncertain significance |
| rs77857366 | 18:704,569 | G/A | — | — |
| rs761630686 | 18:706,545 | C/T | — | uncertain significance |
| rs755594046 | 18:706,559 | G/A | — | uncertain significance |
| rs140842890 | 18:706,574 | G/A | — | uncertain significance |
| rs3786349 | 18:712,568 | G/C | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.