OR12D2
olfactory receptor family 12 subfamily D member 2
Summary
Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]
Known Variants17 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs144532543 | 6:29,364,507 | C/A | — | uncertain significance |
| rs1019146645 | 6:29,364,529 | T/C | — | uncertain significance |
| rs2481083875 | 6:29,364,647 | G/A | — | uncertain significance |
| rs369837860 | 6:29,364,738 | A/G | — | uncertain significance |
| rs1169993686 | 6:29,364,861 | C/T | — | uncertain significance |
| rs745756832 | 6:29,364,952 | T/C | — | uncertain significance |
| rs774082520 | 6:29,364,981 | T/G | — | uncertain significance |
| rs767949185 | 6:29,364,984 | A/C | — | uncertain significance |
| rs761158108 | 6:29,364,988 | G/A | — | likely benign |
| rs763069877 | 6:29,365,092 | A/T | — | uncertain significance |
| rs779038206 | 6:29,365,125 | T/C | — | uncertain significance |
| rs771268170 | 6:29,365,149 | T/C | — | uncertain significance |
| rs764165559 | 6:29,365,182 | G/A | — | uncertain significance |
| rs1186224011 | 6:29,365,287 | C/G | — | uncertain significance |
| rs1377014499 | 6:29,365,303 | T/C | — | uncertain significance |
| rs3128855 | 6:29,366,033 | G/T | — | — |
| rs7775217 | 6:29,366,106 | C/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.