MSH6 p.T1085Pfs*6 Reference Standard
CBP10593
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產品描述
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| Introduction | |
| Format | Genomic DNA |
| Description | MSH6, mutS homolog 6, binds with Msh2 to form the MutS-alpha complex, which functions in initiation of the DNA mismatch repair system and is associated with microsatellite instability (MSI). Mutations in MSH6 are associated with susceptibility to colon cancer and endometrial cancer, and germline MSH6 mutations are associated with Lynch (Hereditary Nonpolyposis Colorectal Cancer) syndrome. |
| Technical Data | |
| DNA Change | c.3252_3253insCC |
| AA Change | p.T1085Pfs*6 |
| Mutation type | Frame_Shift_Ins |
| Zygosity | N/A |
| Allelic Frequency | N/A |
| Transcript | NM_000179.3 |
| Cosmic ID | N/A |
| Chr position(GRCh37) | chr2-48030639--CC |
| 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 |
