名稱 | BRCA2 p.K1691Nfs*15 Reference Standard 標(biāo)準(zhǔn)品 |
型號(hào) | CBP10547 |
報(bào)價(jià) | ![]() |
特點(diǎn) | BRCA2 p.K1691Nfs*15 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 > CBP10547BRCA2 p.K1691Nfs*15 Reference Standard 標(biāo)準(zhǔn)品

- 詳細(xì)內(nèi)容
CBP10547 | |
Format | Genomic DNA |
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.5073delA |
AA Change | p.K1691Nfs*15 |
Mutation type | Missense_Mutation |
Zygosity | Heterozygous |
Allelic Frequency | 50.00% |
Transcript | NM_000059.4 |
Cosmic ID | COSM6048456 |
Chr position(GRCh37) | chr13:32913559 |
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°C |
Expiry | 36 months from the date of manufacture |