| 名稱 | Panel-Ref® BRCA1/2 Germline Mutation Cocktail |
| 型號 | CBP90003 |
| 報價 |  |
| 特點 | Panel-Ref® BRCA1/2 Germline Mutation Cocktail I |
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| Panel-Ref® BRCA1/2 Germline Mutation Cocktail I | |||||||
| Cat No. | CBP90003 | ||||||
| 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 | Allele origin | mRNA | DNA Change | AA Change | AF | Chr position (GRCh37) |
| BRCA1 | Benign | germline | NM_007300.4 | c.4837A>G | p.S1613G | 50.00% | chr17:41223157 |
| BRCA1 | Benign | germline | NM_007300.4 | c.3548A>G | p.K1183R | 50.00% | chr17:41244000 |
| BRCA1 | Benign | germline | NM_007300.4 | c.2612C>T | p.P871L | 100.00% | chr17:41244936 |
| BRCA1 | Benign | germline | NM_007300.4 | c.2458A>G | p.K820E | 50.00% | chr17:41245090 |
| BRCA1 | Benign | germline | NM_007300.4 | c.2082C>T | p.S694S | 50.00% | chr17:41245466 |
| BRCA1 | Uncertain significance | germline | NM_007300.4 | c.1303G>T | p.D435Y | 50.00% | chr17:41246245 |
| BRCA2 | Benign | germline | NM_000059.3 | c.865A>C | p.N289H | 50.00% | chr13:32906480 |
| BRCA2 | Benign | germline | NM_000059.3 | c.2229T>C | p.H743H | 50.00% | chr13:32910721 |
| BRCA2 | Benign | germline | NM_000059.3 | c.2971A>G | p.N991D | 50.00% | chr13:32911463 |
| BRCA2 | Benign | germline | NM_000059.3 | c.3516G>A | p.S1172S | 50.00% | chr13:32912008 |
| BRCA2 | Benign | germline | NM_000059.3 | c.3807T>C | p.V1269V | 50.00% | chr13:32912299 |
| BRCA2 | Benign | germline | NM_000059.3 | c.4563A>G | p.L1521L | 100.00% | chr13:32913055 |
| BRCA2 | Pathogenic | germline | NM_000059.3 | c.5345delA | p.N1784fs | 50.00% | chr13:32913843 |
| BRCA2 | Benign | germline | NM_000059.3 | c.6513G>C | p.V2171V | 100.00% | chr13:32915005 |
| BRCA2 | Benign | germline | NM_000059.3 | c.7397T>C | p.V2466A | 100.00% | chr13:32929387 |
| BRCA2 | Uncertain Significance | germline | NM_000059.3 | c.1365A>G | p.S455S | 50.00% | chr13:32906980 |
| 定標方法：500x WES、DdPCR(部分位點) | |||||||
| 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 | ||||||
