MTNR1B
melatonin receptor 1B
Summary
This gene encodes one of two high affinity forms of a receptor for melatonin, the primary hormone secreted by the pineal gland. This gene product is an integral membrane protein that is a G-protein coupled, 7-transmembrane receptor. It is found primarily in the retina and brain although this detection requires RT-PCR. It is thought to participate in light-dependent functions in the retina and may be involved in the neurobiological effects of melatonin. [provided by RefSeq, Jul 2008]
Known Variants39 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4753426 | 11:92,701,596 | T/C | upstream gene variant | — |
| rs751521431 | 11:92,702,923 | G/A | — | uncertain significance |
| rs1217966168 | 11:92,702,925 | G/A | — | uncertain significance |
| rs8192552 | 11:92,702,962 | A/G | — | benign |
| rs1565177580 | 11:92,702,977 | G/A | — | likely benign |
| rs387906779 | 11:92,703,015 | G/C | — | risk factor |
| rs141804752 | 11:92,703,070 | T/G | — | risk factor |
| rs12804291 | 11:92,705,307 | C/T | intron variant | — |
| rs10830963 | 11:92,708,710 | C/G | intron variant | — |
| rs3781638 | 11:92,713,507 | G/C | — | — |
| rs3781637 | 11:92,713,770 | T/C | intron variant | — |
| rs182349376 | 11:92,714,673 | C/T | — | risk factor |
| rs762043101 | 11:92,714,702 | G/A | — | uncertain significance |
| rs149703897 | 11:92,714,725 | C/T | — | likely benign |
| rs762883185 | 11:92,714,738 | G/A | — | uncertain significance |
| rs144898464 | 11:92,714,767 | C/T | — | benign |
| rs745896689 | 11:92,714,791 | C/G | — | uncertain significance |
| rs771582636 | 11:92,714,811 | A/G | — | uncertain significance |
| rs751824586 | 11:92,714,847 | G/A | — | uncertain significance |
| rs140984335 | 11:92,714,893 | C/T | — | likely benign |
| rs1858108744 | 11:92,714,925 | G/T | — | uncertain significance |
| rs372043726 | 11:92,714,935 | G/T | — | uncertain significance |
| rs371123895 | 11:92,714,982 | C/A | — | likely benign |
| rs1347849879 | 11:92,714,990 | A/G | — | uncertain significance |
| rs199694998 | 11:92,715,032 | G/T | — | uncertain significance |
| rs61747139 | 11:92,715,117 | A/G | — | benign |
| rs2495912394 | 11:92,715,135 | G/T | — | uncertain significance |
| rs778480621 | 11:92,715,156 | T/C | — | uncertain significance |
| rs370175309 | 11:92,715,205 | C/T | — | likely benign |
| rs141855040 | 11:92,715,221 | C/G | — | uncertain significance |
| rs1244321359 | 11:92,715,236 | C/T | — | uncertain significance |
| rs61741965 | 11:92,715,300 | A/G | — | uncertain significance |
| rs184917682 | 11:92,715,312 | A/C | — | risk factor |
| rs373981936 | 11:92,715,326 | C/G | — | uncertain significance |
| rs192246153 | 11:92,715,335 | C/T | — | uncertain significance |
| rs377125337 | 11:92,715,363 | C/T | — | benign |
| rs200055344 | 11:92,715,384 | G/A | — | uncertain significance |
| rs760459053 | 11:92,715,396 | C/T | — | uncertain significance |
| rs1562444 | 11:92,715,849 | G/A | 3 prime UTR variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.