CCK
cholecystokinin
Summary
This gene encodes a member of the gastrin/cholecystokinin family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the peptide hormones cholecystokinin-8, -12, -33, and others. The encoded peptides have been shown to regulate gastric acid secretion and food intake. A sulfated form of cholecystokinin-8 may modulate neuronal activity in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
Known Variants8 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs8192473 | 3:42,299,399 | C/T | 3 prime UTR variant | — |
| rs373098397 | 3:42,299,654 | C/T | — | uncertain significance |
| rs8192472 | 3:42,299,870 | C/G | — | — |
| rs4377469 | 3:42,303,074 | G/C | — | — |
| rs758894615 | 3:42,305,019 | C/T | — | likely benign |
| rs541463179 | 3:42,305,109 | A/G | — | uncertain significance |
| rs754635 | 3:42,305,131 | C/T | — | — |
| rs1799923 | 3:42,306,294 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.