| 名稱 |
Panel-Ref® BRCA1/2 Germline Mutation Cocktail |
| 型號 |
CBP90018 |
| 報價 |
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| 特點 |
Panel-Ref® BRCA1/2 Germline Mutation Cocktail II |
| Panel-Ref® BRCA1/2 Germline Mutation Cocktail II |
| Cat No. | CBP90018 |
| 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。 |
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| Gene | Clinical significance | Allele origin | mRNA | DNA change | AA change | %AF | Cosmic ID | Chr position (GRCh37) |
| BRCA1 | Benign | Germline | NM_007300.4 | c.4900A>G | p.S1634G | 50.00% | COSM3755559 | chr17:41223094 |
| BRCA1 | Benign | Germline | NM_007300.4 | c.4308T>C | p.S1436= | 50.00% | COSM4416374 | chr17:41234470 |
| BRCA1 | Benign | Germline | NM_007300.4 | c.3548A>G | p.K1183R | 50.00% | COSM148277 | chr17:41244000 |
| BRCA1 | Benign | Germline | NM_007300.4 | c.3113A>G | p.E1038G | 50.00% | COSM3755562 | chr17:41244435 |
| BRCA1 | Benign | Germline | NM_007300.4 | c.2612C>T | p.P871L | 50.00% | COSM148278 | chr17:41244936 |
| BRCA1 | Benign | Germline | NM_007300.4 | c.2311T>C | p.L771= | 50.00% | COSM3755565 | chr17:41245237 |
| BRCA1 | Benign | Germline | NM_007300.4 | c.2082C>T | p.S694= | 50.00% | N/A | chr17:41245466 |
| BRCA1 | Pathogenic | Germline | NM_007300.4 | c.1961del | p.K654Sfs*47 | 50.00% | COSM219054 | chr17:41245594 |
| BRCA2 | Benign | Germline | NM_000059.3 | c.3396A>G | p.K1132= | 50.00% | COSM4415775 | chr13:32911888 |
| BRCA2 | Likely_benign | Germline | NM_000059.3 | c.4314C>T | p.V1438= | 50.00% | COSM2071377 | chr13:32912806 |
| BRCA2 | Benign | Germline | NM_000059.3 | c.4563A>G | p.L1521= | 100.00% | COSM9180822 | chr13:32913055 |
| BRCA2 | Benign | Germline | NM_000059.3 | c.6513G>C | p.V2171= | 100.00% | COSM4147689 | chr13:32915005 |
| BRCA2 | Benign | Germline | NM_000059.3 | c.7242A>G | p.S2414= | 50.00% | COSM4415347 | chr13:32929232 |
| BRCA2 | Conflicting_interpretations_of_pathogenicity | Germline | NM_000059.3 | c.7397T>C | p.V2466A | 100.00% | COSM7335572 | chr13:32929387 |
| 定標方法：500x WES、DdPCR(部分位點) |
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| 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 |
如果你對CBP90018Panel-Ref® BRCA1/2 Germline Mutation Cocktail感興趣，想了解更詳細的產品信息，填寫下表直接與廠家聯系：
