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基因檢測標準品 > Mutation > CBP10590MLH1 p.R226* Reference Standard

MLH1 p.R226* Reference Standard
名稱 MLH1 p.R226* Reference Standard
型號 CBP10590
報價
特點 MLH1 p.R226* Reference Standard
  • 詳細內容
 CBP10590
FormatGenomic DNA
DescriptionMLH1, 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 Changec.676C>T
AA Changep.R226*
Mutation typeSplice_Site
ZygosityN/A
Allelic FrequencyN/A
TranscriptNM_000249.4
Cosmic IDN/A
Chr position(GRCh37)chr3-37053589-C-T
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencingDownload for COA
Storage4°C
Expiry36 months from the date of manufacture

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