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腫瘤早篩甲基化標(biāo)準(zhǔn)品
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診斷試劑
diagnosis
Introduction | |
Gene | MSH6 |
Description | MSH6, mutS homolog 6, binds with Msh2 to form the MutS-alpha complex, which functions in initiation of the DNA mismatch repair system (PMID: 23391514) and is associated with microsatellite instability (MSI) (PMID: 30121009). Mutations in MSH6 are associated with susceptibility to colon cancer and endometrial cancer (PMID: 20028993), and germline MSH6 mutations are associated with Lynch (Hereditary Nonpolyposis Colorectal Cancer) syndrome (PMID: 15528792). |
Technical Data | |
DNA Change | c.868delC |
AA Change | p.G289fs |
Mutation type | Frame_Shift_Del |
Zygosity | Heterozygous |
Allelic Frequency | 50.00% |
Transcript | ENST00000234420.5 |
Cosmic ID | N/A |
Chr position(GRCh37) | chr2:48025990 |
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 | 4℃ |
Expiry | 36 months from the date of manufacture |