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南京科佰生物科技有限公司
主营产品： atcc代理,ATCC细胞系,ATCC细胞株,ATCC细胞库购买 |
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南京科佰生物科技有限公司
主营产品： atcc代理,ATCC细胞系,ATCC细胞株,ATCC细胞库购买 |
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更新时间：2022-09-27 14:48:28浏览次数：456
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| 供货周期 | 现货 | 规格 | T-25 Flask |
|---|---|---|---|
| 货号 | CBP90018 | 应用领域 | 生物产业 |
| 主要用途 | 仅限科研使用 |
| Panel-Ref® BRCA1/2 Germline Mutation Cocktail II | ||||||||
| Cat No. | CBP90018 | |||||||
| Description | 主要包含BRCA1和BRCA2的SNV和indel，用于相关的试剂盒和Panel检测服务的质控。 | |||||||
| 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 |
| 定标方法：500x WES、DdPCR(部分位点) | ||||||||
| 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 | |||||||
