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RB1 p.E204Kfs*10 Reference Standard

CBP10451

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Introduction 
Gene RB1
Description RB1, retinoblastoma-associated protein, is a key negative regulator of the G1 to S transition during cell division (PMID: 15084261) and also plays a role in cell differentiation, survival, senescence, epigenetic regulation, and genome stability (PMID: 21295686, PMID: 23359405, PMID: 22293180). Inactivation of Rb1 and loss of Rb1 tumor suppressor function has been identified in many early stage cancers (PMID: 26160835).
   
Technical Data 
DNA Change c.610delG
AA Change p.E204Kfs*10
Mutation type Splice_Site
Zygosity Homozygous
Allelic Frequency 100.00%
Transcript ENST00000267163.4
Cosmic ID N/A
Chr position(GRCh37) chr13:48934155
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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