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MLH1 p.L155Sfs*17 Reference Standard

CBP10589

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Introduction 
Format Genomic DNA
Description MLH1, mutL homolog 1, is a tumor suppressor that dimerizes with Pms2 to form a component of the DNA mismatch repair (MMR) system, and is associated with microsatellite instability (MSI) and genomic stability. MLH1 promoter hypermethylation, resulting in Mlh1 deficiency, is frequently associated with sporadic colorectal, gastric, and esophageal cancers, and germline MLH1 mutations are associated with Lynch (Hereditary Nonpolyposis Colorectal Cancer) syndrome.
   
Technical Data 
DNA Change c.462_463insT
AA Change p.L155Sfs*17
Mutation type Frame_Shift_Ins
Zygosity N/A
Allelic Frequency N/A
Transcript NM_000249.4
Cosmic ID N/A
Chr position(GRCh37) chr3-37050314--T
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 Download for COA
Storage 2-8°C
Expiry 36 months from the date of manufacture

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