| Panel-Ref® BRCA1/2 Somatic Mutation Cocktail I | |||||||
| Cat No. | CBP90019 | ||||||
| Description | 主要包含BRCA1和BRCA2的SNV和indel，用于相關的試劑盒和Panel檢測服務的質控。 | ||||||
| Gene | Clinical significance | DNA change | AA change | Functional class | Variant annotation | Cosmic ID | Chr position (GRCh37) |
| BRCA1 | Benign | c.4837A>G | p.S1634G | missense_variant | 5.00% | COSM3755559 | chr17:41223094 |
| BRCA1 | Benign | c.3548A>G | p.K1183R | missense_variant | 5.00% | COSM148277 | chr17:41244000 |
| BRCA1 | Benign | c.2612C>T | p.P871Q | missense_variant | 45.00% | COSM148278 | chr17:41244936 |
| BRCA1 | Benign | c.2458A>G | K820E | missense_variant | 5.00% | COSM7353052 | chr17:41245090 |
| BRCA1 | Benign | c.2082C>T | p.S694S | synonymous_variant | 5.00% | N/A | chr17:41245466 |
| BRCA1 | Uncertain significance | c.1303G>T | p.D435Y | missense_variant | 5.00% | COSM3190122 | chr17:41246245 |
| BRCA2 | Benign | c.865A>C | p.N289D | missense_variant | 5.00% | COSM3999066 | chr13:32906480 |
| BRCA2 | Benign | c.2229T>C | p.H743H | synonymous_variant | 5.00% | COSM5019762 | chr13:32910721 |
| BRCA2 | Benign | c.2971A>G | p.N991D | missense_variant | 5.00% | COSM4986759 | chr13:32911463 |
| BRCA2 | Benign | c.3516G>A | p.S1172S | synonymous_variant | 5.00% | COSM9269246 | chr13:32912008 |
| BRCA2 | Benign | c.3807T>C | p.V1269V | synonymous_variant | 5.00% | COSM6849605 | chr13:32912299 |
| BRCA2 | Benign | c.4563A>G | p.L1521L | synonymous_variant | 100.00% | COSM9180822 | chr13:32913055 |
| BRCA2 | Pathogenic | c.5345delA | p.N1784fs | frameshift_variant | 10.00% | COSM18607 | chr13:32913843 |
| BRCA2 | Benign | c.6513G>C | p.V2171V | synonymous_variant | 100.00% | COSM4147689 | chr13:32915005 |
| BRCA2 | Benign | c.7397T>C | p.V2466A | missense_variant | 100.00% | COSM7335572 | chr13:32929387 |
| BRCA1 | Pathogenic | c.4327C>T | p.R1443* | stop_gained | 1.00% | COSM979730 | chr17:41234451 |
| BRCA2 | Benign | c.3396A>G | p.K1132K | synonymous_variant | 45.00% | COSM4415775 | chr13:32911888 |
| BRCA2 | Benign | c.4258G>T | p.D1420Y | missense_variant | 5.00% | COSM3736087 | chr13:32912750 |
| BRCA2 | Pathogenic | c.5067delA | p.K1691fs | frameshift_variant | 5.00% | N/A | chr13:32913559 |
| BRCA2 | Benign | c.1365A>T | p.S455S | synonymous_variant | 5.00% | N/A | chr13:32906980 |
| BRCA2 | Benign | c.7242A>T | p.S2414S | synonymous_variant | 37.00% | N/A | chr13:32929232 |
| Product Information | |||||||
| Intended Use | Research Use Only | ||||||
| Unit Size | 1ug/vial * 1 vial | ||||||
| Concentration | Download for COA | ||||||
| Purity | Download for COA | ||||||
| DNA electrophoresis | Download for COA | ||||||
| Storage | 4°C | ||||||
| Expiry | 36 months from the date of manufacture | ||||||
化工儀器網