MBOAT1
membrane bound glycerophospholipid O-acyltransferase 1
Summary
This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs779903802 | 6:20,102,536 | T/C | — | uncertain significance |
| rs2457335 | 6:20,109,592 | G/T | — | — |
| rs1190278550 | 6:20,109,832 | T/C | — | uncertain significance |
| rs749843492 | 6:20,109,854 | C/T | — | uncertain significance |
| rs776135121 | 6:20,109,895 | A/T | — | uncertain significance |
| rs200104220 | 6:20,109,905 | C/T | — | likely benign |
| rs763882716 | 6:20,109,911 | A/T | — | uncertain significance |
| rs145524376 | 6:20,113,119 | T/G | — | uncertain significance |
| rs369053446 | 6:20,113,223 | C/A | — | uncertain significance |
| rs143520373 | 6:20,113,225 | C/A | — | uncertain significance |
| rs773271078 | 6:20,113,226 | G/A | — | uncertain significance |
| rs764569068 | 6:20,115,532 | T/C | — | likely benign |
| rs529680072 | 6:20,115,565 | T/C | — | uncertain significance |
| rs764849279 | 6:20,115,573 | C/T | — | uncertain significance |
| rs752365418 | 6:20,115,574 | T/C | — | uncertain significance |
| rs147981127 | 6:20,118,672 | A/G | — | uncertain significance |
| rs745846124 | 6:20,118,690 | T/C | — | uncertain significance |
| rs553353326 | 6:20,118,693 | G/A | — | uncertain significance |
| rs766387842 | 6:20,124,698 | C/G | — | uncertain significance |
| rs770363147 | 6:20,124,729 | C/T | — | uncertain significance |
| rs200985522 | 6:20,124,815 | T/C | — | uncertain significance |
| rs928507440 | 6:20,126,859 | G/T | — | uncertain significance |
| rs762656025 | 6:20,144,492 | T/C | — | uncertain significance |
| rs149062726 | 6:20,151,441 | T/A | — | uncertain significance |
| rs143010805 | 6:20,151,450 | T/C | — | uncertain significance |
| rs1041254000 | 6:20,151,483 | G/A | — | uncertain significance |
| rs773049692 | 6:20,152,879 | T/C | — | uncertain significance |
| rs1218832780 | 6:20,152,993 | A/G | — | uncertain significance |
| rs1202199 | 6:20,156,174 | T/G | — | — |
| rs10946364 | 6:20,177,222 | T/A | intron variant | — |
| rs555017 | 6:20,185,051 | A/C | — | — |
| rs576252185 | 6:20,214,618 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.