BRCA2 p.N1784fs*7 Reference Standard
CBP10390
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產(chǎn)品描述
產(chǎn)品數(shù)據(jù)庫(kù)
| Introduction | |
| Format | Genomic DNA |
| Description | BRCA2 N1784fs results in a change in the amino acid sequence of the Brca2 protein beginning at aa 1784 of 3418, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the nuclear localization sequence (PMID: 10570174), N1784fs is predicted to lead to a loss of Brca2 protein function. |
| Technical Data | |
| DNA Change | c.5345delA |
| AA Change | p.N1784fs*7 |
| Mutation type | Frame_Shift_Del |
| Zygosity | Heterozygous |
| Allelic Frequency | 50.00% |
| Transcript | ENST00000380152 |
| Cosmic ID | COSM18607 |
| Chr position(GRCh37) | chr13:32913843 |
| 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 |
