NPM1 p.N38D Reference Standard
CBP10545
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| Introduction | |
| Format | Genomic DNA |
| Description | NPM1, nucleophosmin, is a phosphoprotein that shuttles between the nucleus and cytoplasm, and is involved in several cellular processes including ribosomal processing and export, chromatin remodeling, DNA replication and repair, and cell cycle control (PMID: 29157973, PMID: 23436734). NPM1 is frequently mutated in acute myeloid leukemia (PMID: 29157973, PMID: 23436734, PMID: 30122998, PMID: 29785446, PMID: 32203582, PMID: 32609823) and overexpression is implicated with poor prognosis in hematological and solid tumors (PMID: 32071709). |
| Technical Data | |
| DNA Change | c.112A>G |
| AA Change | p.N38D |
| Mutation type | Missense_Mutation |
| Zygosity | Heterozygous |
| Allelic Frequency | 50% |
| Transcript | NM_002520.7 |
| Cosmic ID | N/A |
| Chr position(GRCh37) | chr5:170817108 |
| 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 |
