| 名稱(chēng) | BRCA2 p.Q1782fs Reference Standard 標(biāo)準(zhǔn)品 |
| 型號(hào) | CBP10460 |
| 報(bào)價(jià) |  |
| 特點(diǎn) | BRCA2 p.Q1782fs Reference Standard |
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電話：4008750250
號(hào)碼：
手機(jī)：18066071954
地址：南京市棲霞區(qū)緯地路9號(hào)
Email： zhangxiangwen@cobioer.com
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基因檢測(cè)標(biāo)準(zhǔn)品 > Mutation > CBP10460BRCA2 p.Q1782fs Reference Standard 標(biāo)準(zhǔn)品
- 詳細(xì)內(nèi)容
CBP10460 | |
| Gene | BRCA2 |
| Description | BRCA2, breast cancer type 2 susceptibility protein, is a tumor suppressor involved in the homologous recombination pathway for double-strand DNA repair, thereby playing a role in genome stability (PMID: 27530658). BRCA2 germline mutations increase the risk of developing ovarian and/or breast cancer (PMID: 23364291) and somatic mutations are highest in colon, NSCLC, and ovarian cancers (PMID: 27283171). |
| Technical Data | |
| DNA Change | c.5351delA |
| AA Change | p.Q1782fs |
| Mutation type | Frame_Shift_Del |
| Zygosity | Heterozygous |
| Allelic Frequency | 50.00% |
| Transcript | ENST00000380152.3 |
| Cosmic ID | COSM18607 |
| Chr position(GRCh37) | chr13:32913837 |
| Buffer | Tris-EDTA |
| Product Information | |
| Intended Use | Research Use Only |
| Unit Size | 1ug |
| Concentration | Download for COA |
| Purofication | Download for COA |
| DNA electrophoresis | Download for COA |
| Sanger sequencing |
|
| Storage | 4℃ |
| Expiry | 36 months from the date of manufacture |
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