BRCA2 p.R2973C Reference Standard
CBP10374
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產品描述
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| Introduction | |
| Format | Genomic DNA |
| Description | BRCA2 R2973C lies within the DNA-binding domain of the Brca2 protein (PMID: 12228710). R2973C mediates homology-directed DNA repair at a level comparable to wild-type Brca2 in cultured cells (PMID: 23108138) and therefore, is predicted to have no effect on Brca2 protein function. |
| Technical Data | |
| DNA Change | c.8917C>T |
| AA Change | p.R2973C |
| Mutation type | Missense_Mutation |
| Zygosity | Heterozygous |
| Allelic Frequency | 100% |
| Transcript | ENST00000380152 |
| Cosmic ID | COSM2071543 |
| Chr position(GRCh37) | chr13:32953616 |
| 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 |
