HEG1 Gene
protein-coding GIFtS : 46
GCID: GC03 M124684
HEG homolog 1 (zebrafish)
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Aliasesfor HEG1 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 HEG Homolog 1 (Zebrafish) 1 2 HEG1 2 KIAA12371 3 MST1122 MSTP1122 Protein HEG Homolog 12
Export aliases for HEG1 gene to outside databases Previous GC identifers: GC03M126171 GC03M122058
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Summariesfor HEG1 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: HEG1_HUMAN, Q9ULI3 Function : Receptor component of the CCM signaling pathway which is a crucial regulator of heart and vessel formationand integrity May act through the stabilization of endothelial cell junctions (By similarity)
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Genomic Viewsfor HEG1 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_000003.11 NC_018914.1 NT_005612.16 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the HEG1 gene promoter: STAT1 p53 E47 Evi-1 FOXL1 HFH-1 c-Myb FOXO1a FOXO1 Other transcription factors Search SABiosciences Chromatin IP Primers for HEG1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HEG1
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 3q21.2 Ensembl cytogenetic band: 3q21.2 HGNC cytogenetic band: 3q21.2 HEG1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 3 GeneLoc Exon Structure
GeneLoc location for GC03M124684: view genomic region
(about GC identifiers )
Start:
124,684,554 bp from pter
End:
124,774,802 bp from pter
Size:
90,249 bases
Orientation:
minus strand
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Proteinsfor HEG1 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: HEG1_HUMAN, Q9ULI3 (See
protein sequence )Recommended Name: Protein HEG homolog 1 precursor Size : 1381 amino acids; 147461 Da
Subunit : Interacts with CCM2 and KRIT1; KRIT1 markedly facilitates interaction with CCM2
Subcellular location : Isoform 1: Cell membrane; Single-pass type I membrane protein (Potential). Cell junction (Bysimilarity)
Subcellular location : Isoform 2: Secreted (Potential)
Sequence caution : Sequence=AAH67235.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=BAC11336.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for HEG1 :3U7D (3D)
 
Secondary accessions : Q6NX66 Q8NC40 Q9BSV0Alternative splicing : 2 isoforms : Q9ULI3-1 Q9ULI3-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for HEG1: NX_Q9ULI3 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q9ULI3 HEG1 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_065784.1 ENSEMBL proteins: ENSP00000311502 ENSP00000417648 ENSP00000417494 Human Recombinant Protein Products: Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view) : About this table
HEG1 for ontologies About GeneDecksing HEG1 Antibody Products: Assay Products for HEG1:
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Protein
Domains / Familiesfor HEG1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
HEG1 for domains About GeneDecksing 5 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q9ULI3 ProtoNet protein and cluster: Q9ULI3
1 Blocks protein family : IPB001881 EGF-like calcium-binding UniProtKB/Swiss-Prot: HEG1_HUMAN, Q9ULI3 Similarity : Contains 2 EGF-like domains
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Functionfor HEG1 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: HEG1_HUMAN, Q9ULI3 Function : Receptor component of the CCM signaling pathway which is a crucial regulator of heart and vessel formationand integrity May act through the stabilization of endothelial cell junctions (By similarity)
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 HEG1 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HEG1OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: HEG1 (NM_020733 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HEG1 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HEG1
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEG1
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0005509 calcium ion binding
IEA -- GO:0005515 protein binding
-- --
HEG1 for ontologies About GeneDecksing 2 GenomeRNAi human phenotypes for HEG1 :Animal Models: Mouse knock-out Heg1 tm1Mlkn for HEG1 10 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Heg1) :
HEG1 for phenotypes About GeneDecksing
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Pathways & Interactionsfor HEG1 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 Interactions: Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HEG1 STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)1 Interacting protein for HEG1 (ENSP00000311502 4 ) via UniProtKB, MINT, STRING , and/or I2D About this table Gene Ontology (GO): 5/17 biological process terms (GO ID links to tree view) (see all 17 ): About this table
HEG1 for ontologies About GeneDecksing
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Drugs & Compoundsfor HEG1 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 Browse Tocris compounds for HEG1 Search CenterWatch for drugs/clinical trials and news about HEG1
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Transcriptsfor HEG1 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 HEG1 gene: NM_020733.1 Unigene Cluster for HEG1:
HEG homolog 1 (zebrafish) Hs.477420 [show with all ESTs ] Unigene Representative Sequence: NM_020733 6 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000311127 (uc003ehr.4 uc003ehs.4 uc011bke.2 ) ENST00000487661 ENST00000480667 ENST00000482699 ENST00000488654 ENST00000477536 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HEG1 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HEG1OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: HEG1 (NM_020733 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HEG1 Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat HEG1
Additional cDNA sequence: AB033063.2 AF173887.1 AK074987.1 BC004539.2 BC014053.2 BC047661.1 BC067235.1
9 DOTS entries : DT.91757998 DT.315979
DT.415704 DT.97787859 DT.120909136 DT.95104409 DT.100820812 DT.92034236 DT.92034235 1 AceView cDNA sequence :
BF849902 GeneLoc Exon Structure
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Expression for HEG1 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 HEG1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TTGTCCTGGA
About this image HEG1 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table Stem Cell Differentiation: 1 LifeMap Cell Name Category PureStem™ progenitor EN2 (Embryonic Progenitor Cell)Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See HEG1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for HEG1 SOURCE GeneReport for Unigene cluster: Hs.477420 SABiosciences Custom PCR Arrays for HEG1 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for HEG1Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat HEG1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat HEG1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat HEG1 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEG1
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Orthologsfor HEG1 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 HEG1 gene from 4/11 species (see all 11 ) About this table
ENSEMBL Gene Tree for HEG1 (if available)TreeFam Gene Tree for HEG1 (if available)
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Paralogsfor HEG1 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 HEG1 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 3 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for HEG1 (124684554 - 124774802 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for HEG1 1 CNV : 47990 1 Indel : 68442
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing HEG1
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Disorders
/ Diseasesfor HEG1 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section
HEG1 for disorders About GeneDecksing
OMIM gene information: 614182
OMIM disorders : --3 diseases for HEG1 : About MalaCards cavernous malformation cerebral cavernous malformations cerebritis Human Genome Epidemiology (HuGE) Navigator: HEG1 (2 documents) Export disorders for HEG1 gene to outside databases
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Publicationsfor HEG1 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 HEG1 gene, integrated from 9 sources (see all 12 ): (articles sorted by number of sources associating them with HEG1) Utopia : connect your pdf to the dynamic world of online information
Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462) 1 , 2 , 3 Nagase T.... Ohara O. (1999) Structural basis of the junctional anchorage of the cerebral cavernous malformations complex. (PubMed id 23007647) 2 Gingras A.R.... Ginsberg M.H. (2012) Human urinary glycoproteomics; attachment site specific analysis of N-and O-linked glycosylations by CID and ECD. (PubMed id 22171320) 2 Halim A.... Larson G. (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) The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997) 2 Muzny D.M....Gibbs R.A. (2006) Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743) 1 Otsuki T....Isogai T. (2005) Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952) 2 Liu T.... Smith R.D. (2005) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 2 Gerhard D.S....Malek J. (2004) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 2 Ota T.... Sugano S. (2004) heart of glass regulates the concentric growth of the heart in zebrafish. (PubMed id 14680629) 1 Mably J.D....Fishman M.C. (2003)
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External Searches for HEG1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing HEG1 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 HEG1 gene
(According to HUGE )
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Specialized Databases showing HEG1 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 HEG1 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for HEG1 gene: Search GeneIP for patents involving HEG1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor HEG1 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
Browse OriGene Antibodies OriGene shRNA RFP for HEG1 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for HEG1 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for HEG1 OriGene Protein Over-expression Lysate for HEG1 Browse OriGene Fluorogenic Cell Assay Kits Browse OriGene siRNAs OriGene 3'-UTR Clone for HEG1 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HEG1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HEG1 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 Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for HEG1 OriGene Custom Protein Services for HEG1 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HEG1 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing HEG1 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HEG1 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat HEG1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat HEG1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat HEG1
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HEG1
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