BRCA2 p.Q1782fs Reference Standard
CBP10460
詢(xún) 價(jià)
索取COA
產(chǎn)品描述
產(chǎn)品數(shù)據(jù)庫(kù)
| Introduction | |
| 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 | 2-8℃ |
| Expiry | 36 months from the date of manufacture |
