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基因檢測(cè)標(biāo)準(zhǔn)品 > Panel > CBP90018Panel-Ref® BRCA1/2 Germline Mutation Cocktail

Panel-Ref® BRCA1/2 Germline Mutation Cocktail
名稱 Panel-Ref® BRCA1/2 Germline Mutation Cocktail
型號(hào) CBP90018
報(bào)價(jià)
特點(diǎn) Panel-Ref® BRCA1/2 Germline Mutation Cocktail II
  • 詳細(xì)內(nèi)容
Panel-Ref® BRCA1/2 Germline Mutation Cocktail II
Cat No.CBP90018
Description主要包含BRCA1和BRCA2的SNV和indel，用于相關(guān)的試劑盒和Panel檢測(cè)服務(wù)的質(zhì)控。









GeneClinical significanceAllele originmRNADNA changeAA change%AFCosmic IDChr position (GRCh37)
BRCA1BenignGermlineNM_007300.4c.4900A>Gp.S1634G50.00%COSM3755559chr17:41223094
BRCA1BenignGermlineNM_007300.4c.4308T>Cp.S1436=50.00%COSM4416374chr17:41234470
BRCA1BenignGermlineNM_007300.4c.3548A>Gp.K1183R50.00%COSM148277chr17:41244000
BRCA1BenignGermlineNM_007300.4c.3113A>Gp.E1038G50.00%COSM3755562chr17:41244435
BRCA1BenignGermlineNM_007300.4c.2612C>Tp.P871L50.00%COSM148278chr17:41244936
BRCA1BenignGermlineNM_007300.4c.2311T>Cp.L771=50.00%COSM3755565chr17:41245237
BRCA1BenignGermlineNM_007300.4c.2082C>Tp.S694=50.00%N/Achr17:41245466
BRCA1PathogenicGermlineNM_007300.4c.1961delp.K654Sfs*4750.00%COSM219054chr17:41245594
BRCA2BenignGermlineNM_000059.3c.3396A>Gp.K1132=50.00%COSM4415775chr13:32911888
BRCA2Likely_benignGermlineNM_000059.3c.4314C>Tp.V1438=50.00%COSM2071377chr13:32912806
BRCA2BenignGermlineNM_000059.3c.4563A>Gp.L1521=100.00%COSM9180822chr13:32913055
BRCA2BenignGermlineNM_000059.3c.6513G>Cp.V2171=100.00%COSM4147689chr13:32915005
BRCA2BenignGermlineNM_000059.3c.7242A>Gp.S2414=50.00%COSM4415347chr13:32929232
BRCA2Conflicting_interpretations_of_pathogenicityGermlineNM_000059.3c.7397T>Cp.V2466A100.00%COSM7335572chr13:32929387
定標(biāo)方法：500x WES、DdPCR(部分位點(diǎn))









Product Information　
Intended UseResearch Use Only
Unit Size1ug/vial * 1 vial
ConcentrationDownload for COA
PurityDownload for COA
DNA electrophoresisDownload for COA
Storage4°C
Expiry36 months from the date of manufacture


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