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基因检测标准品 > Mutation > CBP10454BRCA2 p.F1427fs Reference Standard 标准品

BRCA2 p.F1427fs Reference Standard  标准品
名称 BRCA2 p.F1427fs Reference Standard 标准品
型号 CBP10454
报价
特点 BRCA2 p.F1427fs Reference Standard
  • 详细内容
 CBP10454
GeneBRCA2
DescriptionBRCA2, breast cancer type 2 susceptibility protein, is a tumor suppressor involved in the homologous recombination pathway for double-strand DNA repair, thereby playing a role in genome stability (PMID: 27530658). BRCA2 germline mutations increase the risk of developing ovarian and/or breast cancer (PMID: 23364291) and somatic mutations are highest in colon, NSCLC, and ovarian cancers (PMID: 27283171).
  
Technical Data 
DNA Changec.4277_4278insT
AA Changep.F1427fs
Mutation typeFrame_Shift_Ins
ZygosityHeterozygous
Allelic Frequency50.00%
TranscriptENST00000380152.3
Cosmic IDN/A
Chr position(GRCh37)chr13:32912770_32912771
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

10454.png

Storage4℃
Expiry36 months from the date of manufacture

 

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