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MSH6 p.G289fs Reference Standard

CBP10444

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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 2-8℃
Expiry 36 months from the date of manufacture

 

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