MSH2 p.R383* Reference Standard
CBP10579
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| Introduction | |
| Format | Genomic DNA |
| Description | MSH2, mutS homolog 2, is a tumor suppressor that functions as part of the DNA mismatch repair system and is associated with microsatellite instability (MSI) and genomic stability. Mutations in MSH2 are associated with susceptibility to colon cancer and endometrial cancer, and germline MSH2 mutations are associated with Lynch (Hereditary Nonpolyposis Colorectal Cancer) syndrome (HNPCC1). |
| Technical Data | |
| DNA Change | c.1147C>T |
| AA Change | p.R383* |
| Mutation type | Nonsense_Mutation |
| Zygosity | Heterozygous |
| Allelic Frequency | 50% |
| Transcript | NM_000251.3 |
| Cosmic ID | COSM330652 |
| Chr position(GRCh37) | chr2:47656951 |
| 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 |
