NPM1 p.W288CfsTer12 Reference Standard
CBP10761
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產(chǎn)品描述
產(chǎn)品數(shù)據(jù)庫(kù)
| Introduction | |
| Format | Genomic DNA |
| Description |
NPM1 (nucleophosmin) is a multifunctional nucleolar phosphoprotein involved in ribosome biogenesis, centrosome duplication, and regulation of the ARF-p53 tumor suppressor pathway. It shuttles between the nucleus and cytoplasm, playing key roles in maintaining genomic stability and cellular proliferation. Mutations in NPM1, most commonly causing aberrant cytoplasmic localization, are the most frequent genetic alterations in acute myeloid leukemia (AML) and define a distinct AML subtype with unique clinical and prognostic features.
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| Technical Data | |
| DNA Change | c.860_863dup |
| AA Change | p.W288CfsTer12 |
| Mutation type | Frameshift_variant |
| Zygosity | Heterozygous |
| Allelic Frequency | 50.20%(DdPCR） |
| Transcript | NM_002520.7 |
| Cosmic ID | COSM17559 |
| Chr position(GRCh37) | chr5:170837543_170837544 |
| Buffer | Tris-EDTA |
| Product Information | |
| Intended Use | Research Use Only |
| Unit Size | 1ug |
| Concentration | Download for COA |
| Purity | Download for COA |
| DNA electrophoresis | Download for COA |
| Sanger sequencing | Download for COA |
| Storage | 2-8℃ |
| Expiry | 36 months from the date of manufacture |
