PALB2 p.M296* Reference Standard
CBP10740
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產(chǎn)品描述
產(chǎn)品數(shù)據(jù)庫(kù)
| Introduction | |
| Format | Genomic DNA |
| Description | PALB2, partner and localizer of BRCA2, recruits Brca2 and Rad51 to repair DNA through homologous recombination. PALB2 loss of function mutations have been linked to hereditary breast cancer and male breast cancer. |
| Technical Data | |
| DNA Change | c.886del |
| AA Change | p.M296* |
| Mutation type | Deletion - Frameshift |
| Zygosity | Heterozygous |
| Allelic Frequency | 33.33% (NGS) |
| Transcript | ENST00000261584.4 |
| Cosmic ID | COSM1376814 |
| Chr position(GRCh37) | chr16:23646987 |
| 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 |
