CNPY3
canopy FGF signaling regulator 3
Summary
This gene encodes a protein that binds members of the toll-like receptor protein family and functions as a chaperone to aid in folding and export of these proteins. Alternative splicing results in multiple transcript variants. Naturally occuring readthrough transcription occurs between this locus and the downstream GNMT (glycine N-methyltransferase) gene and is represented with GeneID:107080644. [provided by RefSeq, Jan 2016]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs567773517 | 6:42,895,580 | A/G | — | — |
| rs534665673 | 6:42,897,330 | G/C | — | uncertain significance |
| rs1292446751 | 6:42,897,364 | T/C | — | uncertain significance |
| rs766901618 | 6:42,897,369 | C/T | — | likely benign |
| rs995251143 | 6:42,897,376 | T/C | — | uncertain significance |
| rs754100941 | 6:42,897,382 | T/C | — | uncertain significance |
| rs146734164 | 6:42,898,609 | C/G | — | — |
| rs375546787 | 6:42,902,260 | G/A | — | uncertain significance |
| rs374422440 | 6:42,902,302 | G/T | — | uncertain significance |
| rs751837391 | 6:42,902,304 | C/G | — | uncertain significance |
| rs1768080171 | 6:42,902,337 | G/A | — | uncertain significance |
| rs1325158416 | 6:42,903,280 | G/A | — | uncertain significance |
| rs746471637 | 6:42,903,328 | G/A | — | uncertain significance |
| rs2481062453 | 6:42,903,383 | G/C | — | uncertain significance |
| rs767720442 | 6:42,903,388 | G/A | — | uncertain significance |
| rs761023974 | 6:42,903,398 | G/A | — | uncertain significance |
| rs1053539 | 6:42,903,766 | T/G | upstream gene variant | — |
| rs9471968 | 6:42,905,235 | A/G | upstream gene variant | — |
| rs1554292759 | 6:42,905,455 | G/C | — | pathogenic |
| rs1554292820 | 6:42,905,578 | G/A | — | pathogenic |
| rs367667963 | 6:42,905,914 | C/T | — | likely benign |
| rs142296062 | 6:42,905,924 | G/A | — | uncertain significance |
| rs77807794 | 6:42,906,242 | C/T | — | — |
| rs115953673 | 6:42,906,243 | T/G | — | — |
| rs2481082192 | 6:42,906,305 | G/A | — | uncertain significance |
| rs1768394971 | 6:42,906,320 | C/T | — | likely pathogenic |
| rs375246952 | 6:42,906,329 | G/A | — | uncertain significance |
| rs768775544 | 6:42,906,338 | G/A | — | uncertain significance |
| rs147735655 | 6:42,906,350 | G/A | — | likely benign |
| rs1768399256 | 6:42,906,366 | A/G | — | uncertain significance |
| rs768042941 | 6:42,906,383 | A/T | — | uncertain significance |
| rs200953616 | 6:42,906,403 | C/T | — | likely benign |
| rs1256509421 | 6:42,906,466 | C/T | — | likely benign |
| rs769480238 | 6:42,906,491 | G/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.