AVEN Gene
protein-coding GIFtS : 52
GCID: GC15 M034158
apoptosis, caspase activation inhibitor
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Aliasesfor AVEN gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
and/or 10 fRNAdb )About This Section Aliases Apoptosis, Caspase Activation Inhibitor 1 2 PDCD121 2 Cell Death Regulator Aven2 Programmed Cell Death 122
Export aliases for AVEN gene to outside databases Previous GC identifers: GC15M029400 GC15M026866 GC15M031737 GC15M031874 GC15M031945 GC15M011021
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Summariesfor AVEN gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section UniProtKB/Swiss-Prot: AVEN_HUMAN, Q9NQS1 Function : Protects against apoptosis mediated by Apaf-1
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Genomic Viewsfor AVEN gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,
and/or miRBase ,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000015.9 NC_018926.1 NT_010194.17 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the AVEN gene promoter: STAT5B Elk-1 NRF-2 NCX/Ncx STAT5A Nkx2-5 c-Ets-1 Other transcription factors Search SABiosciences Chromatin IP Primers for AVEN Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AVEN
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 15q13.1 Ensembl cytogenetic band: 15q14 HGNC cytogenetic band: 15q13.1 AVEN Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 15 GeneLoc Exon Structure
GeneLoc location for GC15M034158: view genomic region
(about GC identifiers )
Start:
34,158,428 bp from pter
End:
34,331,377 bp from pter
Size:
172,950 bases
Orientation:
minus strand
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Proteinsfor AVEN gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from
EMD Millipore ,
R&D Systems ,
GenScript ,
Enzo Life Sciences ,
OriGene ,
Novus Biologicals ,
Sino Biological ,
ProSpec , and/or
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: AVEN_HUMAN, Q9NQS1 (See
protein sequence )Recommended Name: Cell death regulator Aven Size : 362 amino acids; 38506 Da
Subunit : Binds Apaf-1, BCL-2 and BAD (Bcl-xl)
Subcellular location : Endomembrane system; Peripheral membrane protein. Note=Associated with intracellular membranesExplore the universe of human proteins at neXtProt for AVEN: NX_Q9NQS1 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q9NQS1 AVEN Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_065104.1 ENSEMBL proteins: ENSP00000306822 ENSP00000452906 Human Recombinant Protein Products: Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view) : About this table
AVEN for ontologies About GeneDecksing AVEN Antibody Products: Assay Products for AVEN:
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Protein
Domains / Familiesfor AVEN gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
AVEN for domains About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry Q9NQS1 ProtoNet protein and cluster: Q9NQS1
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Functionfor AVEN gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: AVEN_HUMAN, Q9NQS1 Function : Protects against apoptosis mediated by Apaf-1
Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for AVEN (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for AVEN (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: AVEN (NM_020371 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AVEN Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat AVEN
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AVEN
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view) : About this table
AVEN for ontologies About GeneDecksing Animal Models: 1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Aven) :
AVEN for phenotypes About GeneDecksing
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Pathways & Interactionsfor AVEN gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Reactome ,
Tocris Bioscience ,
GeneGo (Thomson Reuters) ,
QIAGEN ,
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Interaction Networks according to
SABiosciences ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Unified GeneCards pathways   About this table See pathways by source Super-pathway contained gene-specific pathways 1 Apoptosis and Autophagy
Pathway sources See GeneCards unified pathways Show all pathways 1
Cell Signaling Technology (CST) Pathway for AVEN
AVEN for pathways About GeneDecksing Interactions: SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AVEN STRING Interaction
Network Preview (showing 5 interactants - click image to see more details)5/10 Interacting proteins for AVEN (Q9NQS1 2 , 3 ENSP00000306822 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 10 )About this table Gene Ontology (GO): 2 biological process terms (GO ID links to tree view) : About this table
AVEN for ontologies About GeneDecksing
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Drugs & Compoundsfor AVEN gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section
AVEN for compounds About GeneDecksing Browse Tocris compounds for AVEN 1 Novoseek chemical compound relationship for AVEN gene About this table
Compound
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
thapsigargin
35
2
11276013 (2)
Search CenterWatch for drugs/clinical trials and news about AVEN
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Transcriptsfor AVEN gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for AVEN gene: NM_020371.2 Unigene Cluster for AVEN:
Apoptosis, caspase activation inhibitor Hs.555966 [show with all ESTs ] Unigene Representative Sequence: NM_020371 3 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000306730 (uc001zhj.3 ) ENST00000560649 ENST00000558136 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for AVEN (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for AVEN (see all 2 )OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: AVEN (NM_020371 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for AVEN Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat AVEN
Additional cDNA sequence: AF283508.1 AK025888.1 BC010488.1 BC063533.1
2 DOTS entries : DT.410128 DT.409791
24/69 AceView cDNA sequences (see all 69 ):
BU620526 AI018614 BC010488 AL541314 AA630591 BM680720 BC063533 BM711332 BG285015 BX090037 BM807941 BM665905 AI373132 AI473327 CR618548 CR619789 AW673669 NM_020371 BU856249 AI804357 AF283508 BM811419 BM760540 CD106819 GeneLoc Exon Structure
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Expression for AVEN gene
(RNA expression data according to
H-InvDB ,
NONCODE ,
miRBase , and
RNAdb ,
Expression images according to data from
BioGPS ,
Illumina Human BodyMap , and
CGAP
SAGE ,
Sets of similar genes according to GeneDecks ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
plus additional links to
Genevestigator , and/or
SOURCE , and/or
BioGPS , and/or
UniProtKB ,
PCR Arrays from
SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section AVEN expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: CATTTGGCCA
About this image AVEN expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See AVEN Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for AVEN SOURCE GeneReport for Unigene cluster: Hs.555966 UniProtKB/Swiss-Prot: AVEN_HUMAN, Q9NQS1 Tissue specificity : Highly expressed in testis, ovary, thymus, prostate, spleen, small intestine, colon, heart,skeletal muscle, liver, kidney and pancreas SABiosciences Expression via Pathway-Focused PCR Arrays including AVEN : Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for AVENBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat AVEN QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat AVEN QIAGEN QuantiFast Probe-based Assays in human , mouse , rat AVEN In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AVEN
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Orthologsfor AVEN gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section
This gene was present in the common ancestor of chordates.
Orthologs for AVEN gene from 4/8 species (see all 8 ) About this table
ENSEMBL Gene Tree for AVEN (if available)TreeFam Gene Tree for AVEN (if available)
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Paralogsfor AVEN gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section --
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Genomic Variantsfor AVEN gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
UniProtKB , and
DNA2.0 ,
Linkage Disequilibrium by HapMap ,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants , Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB) , Blood group antigen gene mutations by BGMUT ,
Resequencing Primers from QIAGEN ,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences )
About This Section
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 15 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for AVEN (34158428 - 34331377 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 11 variations for AVEN 4 CNVs : 53263 49527 7058 72231 6 Indels : 10706 41748 102072 61432 72233 11787 1 Inversion : 59727
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing AVEN
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Disorders
/ Diseasesfor AVEN gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Novoseek ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
AVEN for disorders About GeneDecksing
OMIM gene information: 605265
OMIM disorders : --17 diseases for AVEN : About MalaCards prader-willi syndrome malignant pleural mesothelioma glucocorticoid resistance acute lymphoblastic leukemia lymphoblastic leukemia kaposi's sarcoma emphysema myeloid leukemia sarcoma leukemia alzheimer's disease prostate cancer cholesterol prostatitis pancreatitis neuronitis alcoholism 2 diseases from the University of Copenhagen DISEASES database for AVEN :Schizoid personality disorder Alexithymia 2 Novoseek disease relationships for AVEN gene About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
tumors
0
3
15156195 (1), 17592138 (1), 15540893 (1)
cancer
0
1
17592138 (1)
Human Genome Epidemiology (HuGE) Navigator: AVEN (8 documents) Export disorders for AVEN gene to outside databases
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Publicationsfor AVEN gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for AVEN gene, integrated from 9 sources (see all 51 ): (articles sorted by number of sources associating them with AVEN) Utopia : connect your pdf to the dynamic world of online information
Aven, a novel inhibitor of caspase activation, binds Bcl-xL and Apaf- 1. (PubMed id 10949025) 1 , 2 , 3 Chau B.N.... Hardwick J.M. (2000) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 Gerhard D.S....Malek J. (2004) Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724) 1 Udeshi N.D....Carr S.A. (2012) Apoptosis-inhibitor Aven is downregulated in defectiv e spermatogenesis and a novel estrogen target gene in mammalian testis. (PubMed id 21718987) 1 Laurentino S....Socorro S. (2011) Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983) 1 Kim W....Gygi S.P. (2011) Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614) 1 Rose J.E....Uhl G.R. (2010) Physiogenomic analysis of statin-treated patients: do main-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615) 1 RuaA+o G....Wu A.H. (2010) Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231) 2 Olsen J.V....Mann M. (2010) Regulation of the ATM-activator protein Aven by CRM1- dependent nuclear export. (PubMed id 20935510) 1 Esmaili A.M....Irusta P.M. (2010) Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603) 1 Flachsbart F....Nebel A. (2010)
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External Searches for AVEN gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing AVEN gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing AVEN gene
(According to HUGE )
About This Section --
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Specialized Databases showing AVEN gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description
PharmGKB entry for AVEN Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for AVEN gene: Search GeneIP for patents involving AVEN GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor AVEN gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript and LifeMap BioReagents , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences ), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
OriGene Antibodies for AVEN OriGene shRNA RFP for AVEN OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for AVEN OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for AVEN Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for AVEN OriGene 3'-UTR Clone for AVEN OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for AVEN OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for AVEN Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs OriGene Purified Protein for AVEN OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for AVEN OriGene Custom Protein Services for AVEN OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat AVEN QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing AVEN QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AVEN QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat AVEN QIAGEN QuantiFast Probe-based Assays in human , mouse , rat AVEN QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat AVEN
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat AVEN
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