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    首頁(yè) /診斷試劑 /腫瘤標準品 /Panel /Panel-Ref? Hematologic Malignancies Cocktail Reference Standard

    Panel-Ref? Hematologic Malignancies Cocktail Reference Standard

    CBP90039

    產(chǎn)品描述
    產(chǎn)品數據庫
    Introduction
    Description N/A
                     
    GENE Mut. CDS change Transcript Mutation type Chr Position (GRCh37) COSMIC ID Variant Classification AF%
    ABL1 p.T315I c.944C>T NM_005157.6 Missense chr9:133748283 COSM12560 Pathogenic 4.94
    ABL1 BCR(E13)-ABL1(E2) N/A N/A Translocation chr22:23632361:+
    chr9:133681715:+    		 N/A Pathogenic 4.56
    MYD88 p.L265P c.794T>C ENST00000396334.3 Missense chr3:38182641 N/A Pathogenic 4.81
    BTK p.C481S c.1442G>C NM_000061.3 Missense chrX:100611164 COSM6053938 Pathogenic 5.25
    FLT3 FLT3-ITD(E598_Y599 insFD FREYE) c.1795-1796 ins21(TTGATTTCAGAGAATATGAAT) NM_004119.2 Insertion - In frame N/A N/A Pathogenic 5.5
    FLT3 p.D835V c.2504A>T NM_004119.3 Missense chr13:28592641 COSM784 Pathogenic 5.92
    IDH2 p.R172K c.515G>A NM_002168.4 Missense chr15:90631838 COSM33733 Pathogenic 5.08
    JAK2 p.V617F c.1849G>T NM_004972.4 Missense chr9:5073770 COSM12600 Pathogenic 4.68
    KIT p.D816V c.2447A>T NM_000222.3 Missense chr4:55599321 COSM1314 Pathogenic 4.92
    KRAS p.G12D c.35G>A NM_004985.5 Missense chr12:25398284 COSM521 Pathogenic 5.64
    PDGFRA FIP1L1(E12)-PDGFRA(E12) N/A N/A DEL-like Chr4:54292891:+
    Chr4:55141088:+    		 N/A Pathogenic 5.63
    PDGFRA p.D842V c.2525A>T NM_006206.6 Missense chr4:55152093 COSM736 Pathogenic 5.24
    PIK3CA p.H1047R c.3140A>G NM_006218.4 Missense chr3:178952085 COSM775 Pathogenic 5.96
    C-MYC Amplification N/A N/A CNV N/A N/A Pathogenic 4.84 copies
    CBL p.Q409fs

    c.1227_1227+13

    del(AGGTACGGATCTAA)

    		 NM_005188.4 splice junction loss chr11:119149006 N/A Uncertain Significance 2.79
    IDH1 p.R132C c.394C>T NM_005896.4 Missense chr2:209113113 COSM28747 Pathogenic 14.94
    NRAS p.Q61K c.181C>A NM_002524.5 Missense chr1:115256530 COSM580 Pathogenic 16.7
    BCORL1 p.P1681Qfs*20 c.5042delC NM_021946.5 frameshift chrX:129190011 N/A Uncertain Significance 10.75
    TP53 p.M133K c.398T>A NM_000546.6 Missense chr17:7578532 COSM11781 Likely Pathogenic 0.76
    BRAF p.V600E c.1799T>A NM_004333.6 Missense chr7:140453136 COSM476 Pathogenic 13.17
    ARID1A p.D1850Tfs*33 c.5548delG NM_006015.6 frameshift chr1:27105931 COSM133001 Uncertain Significance 7.65
    ARID1A p.P1115Qfs*46 c.3344delC NM_006015.6 frameshift chr1:27097751 COSM133000 Uncertain Significance 7.31
    EP300 p.K292Rfs*25 c.875delA NM_001429.4 frameshift chr22:41522009 COSM3153084 Uncertain Significance 6.95
    EP300 p.M1470Cfs*26 c.4408delA NM_001429.4 frameshift chr22:41566525 COSM88790 Uncertain Significance 7.34
    CREBBP N/A c.1824-2A>G NM_004380.3 non coding chr16:3828820 N/A Likely Pathogenic 7.75
    B2M p.R117* c.349C>T NM_004048.4 nonsense chr15:45008529 COSM279094 Uncertain Significance 7.24
    NF1 p.Y628Tfs*3 c.1882delT NM_001042492.3 frameshift chr17:29552144 COSM34040 Pathogenic 7.63
    NF1 p.N2341Tfs*5 c.7022delA NM_001042492.3 frameshift chr17:29667620 COSM29755 Likely Pathogenic 7.47
    TP53 p.S215G c.643A>G NM_000546.6 Missense chr17:7578206 COSM43951 Pathogenic 11.8
    MEF2B p.V316Sfs*6 c.944dupG NM_001145785.2 frameshift chr19:19256775 COSM5367959 Uncertain Significance 7.54
    CD79a p.L191_G208del c.568-2_610del(TCCCAGGGCCTGAACCTGGACGACTGCTCCATGTATGAGGACATC) NM_001783.4 splice junction loss chr19:42384928 N/A Pathogenic 3.02
    KMT2D p.G3465* c.10393G>T NM_003482.4 nonsense chr12:49428412 COSM2006927 Uncertain Significance 7.24
    KMT2D p.P2550Lfs*33 c.7649delG NM_003482.4 frameshift chr12:49433908 COSM4614703 Uncertain Significance 7.24
    KMT2A KMT2A-MLLT3(E10-E6,E9-E6) N/A N/A Translocation Chr11:118358441
    Chr9:20412831    		 N/A Pathogenic 2.69
    KMT2A p.D877Pfs*8 c.2629_2630delAG NM_005933.4 frameshift chr11:118344503.. 118344504 COSM2105383 Pathogenic 6.8
    KMT2A p.P773Rfs*8 c.2318delC NM_005933.4 frameshift chr11:118344192 COSM1351608 Pathogenic 6.86
    ASXL1 p.G645Vfs*58 c.1934del  NM_015338.6 frameshift chr20:31022443-G- N/A Uncertain Significance 6.98
    KMT2A

    KMT2A-

    PTD (E2-E8Dup)

    		 c.22807bp-Duplication NM_005933.4 Dup-Like chr11:118331125-118353931Dup N/A Pathogenic 2.6
                     
    Product Information　
    Intended Use Research Use Only
    Unit Size 1ug/vial * 1 vial
    Concentration Download for COA
    Purity Download for COA
    DNA electrophoresis Download for COA
    Storage 2-8°C
    Expiry 36 months from the date of manufacture

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    藥靶模型聯(lián)系方式: 華東銷(xiāo)售經(jīng)理(上海）：18240630236 華東銷(xiāo)售經(jīng)理(上海、江蘇、安徽）：15715191010 華中&華西銷(xiāo)售經(jīng)理：18071545918 華中&西南銷(xiāo)售經(jīng)理：13871580511 華北銷(xiāo)售經(jīng)理：18628311252 全國銷(xiāo)售經(jīng)理：13816461235
    診斷標準品聯(lián)系方式： 華東銷(xiāo)售經(jīng)理：15000320447 華北銷(xiāo)售經(jīng)理：18628311252 華中&華西銷(xiāo)售經(jīng)理：18071545918 華中&西南銷(xiāo)售經(jīng)理：13871580511 全國銷(xiāo)售經(jīng)理：13816461235

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