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基因检测标准品 > Mutation > CBP10571PMS2 p.Q781Q Reference Standard 标准品

PMS2 p.Q781Q Reference Standard 标准品
名称 PMS2 p.Q781Q Reference Standard 标准品
型号 CBP10571
报价 900
特点 PMS2 p.Q781Q Reference Standard
  • 详细内容
CBP10571
FormatGenomic DNA
DescriptionPMS2, PMS1 homolog 2, mismatch repair system component, interacts with MLH1 to form the MutL-alpha complex, which functions in DNA mismatch repair and is associated with microsatellite instability (MSI)  and genomic stability. Germline PMS2 mutations are associated with Lynch syndrome , mutations in PMS2 are associated with susceptibility to colon cancer and endometrial cancer, and overexpression has been reported in prostate cancer.
  
Technical Data 
DNA Changec.2343G>A
AA Changep.Q781Q
Mutation typeSilent
ZygosityHeterozygous
Allelic Frequency50% 
TranscriptNM_000535.7
Cosmic IDCOSM3084698
Chr position(GRCh37)chr7:6017321
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

CBP10571 sanger.jpg

Storage4℃
Expiry36 months from the date of manufacture


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