BRCA2 p.K1691Nfs*15 Reference Standard
CBP10547
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產品描述
產品數據庫
| Introduction | |
| 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 | 2-8°C |
| Expiry | 36 months from the date of manufacture |
