HBQ1 Gene
protein-coding GIFtS : 47
GCID: GC16 P000268
hemoglobin, theta 1
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Aliasesfor HBQ1 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 Hemoglobin, Theta 1 1 2 Hemoglobin Theta-1 Chain2 3 Hemoglobin Subunit Theta-12 Theta-1-Globin1 Theta-1-Globin1
Export aliases for HBQ1 gene to outside databases Previous GC identifers: GC16P000249 GC16P000170 GC16P000245 GC16P000149 GC16P000254 GC16P000256 GC16P000260 GC16P000264
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Summariesfor HBQ1 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for HBQ1 : Theta-globin mRNA is found in human fetal erythroid tissue but not in adult erythroid or other nonerythroid tissue. The theta-1 gene may be expressed very early in embryonic life, perhaps sometime before 5 weeks. Theta-1 is a member of the human alpha-globin gene cluster that involves five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-2 -pseudoalpha-1 - alpha-2 - alpha-1 - theta-1 - 3'. Research supports a transcriptionally active role for the gene and a functional role for the peptide in specific cells, possibly those of early erythroid tissue. (provided by RefSeq, Jul 2008) Gene Wiki entry for HBQ1
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Genomic Viewsfor HBQ1 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_000016.9 NC_018927.1 NT_010393.16 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the HBQ1 gene promoter: STAT1 MAZR AP-1 ATF-2 STAT1beta HNF-4alpha2 LCR-F1 STAT1alpha HNF-4alpha1 c-Jun Other transcription factors Search SABiosciences Chromatin IP Primers for HBQ1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat HBQ1
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3 HBQ1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 16 GeneLoc Exon Structure
GeneLoc location for GC16P000268: view genomic region
(about GC identifiers )
Start:
230,335 bp from pter
End:
231,180 bp from pter
Size:
846 bases
Orientation:
plus strand
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Proteinsfor HBQ1 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: HBAT_HUMAN, P09105 (See
protein sequence )Recommended Name: Hemoglobin subunit theta-1 Size : 142 amino acids; 15508 Da
Secondary accessions : Q13723 Q1W6G5Explore the universe of human proteins at neXtProt for HBQ1: NX_P09105 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_P09105 HBQ1 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_005322.1 ENSEMBL proteins: ENSP00000199708 Human Recombinant Protein Products: Gene Ontology (GO): 1 cellular component term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0005833 hemoglobin complex
IEA --
HBQ1 for ontologies About GeneDecksing HBQ1 Antibody Products: Assay Products for HBQ1:
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Protein
Domains / Familiesfor HBQ1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
HBQ1 for domains About GeneDecksing 5 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry P09105 ProtoNet protein and cluster: P09105
2 Blocks protein families : IPB002338 Alpha haemoglobin signature IPB002339 Pi haemoglobin signature UniProtKB/Swiss-Prot: HBAT_HUMAN, P09105 Similarity : Belongs to the globin family
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Functionfor HBQ1 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: Genatlas biochemistry entry for HBQ1 : hemoglobin,theta 1,embryonic 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 HBQ1 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HBQ1OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: HBQ1 (NM_005331 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HBQ1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat HBQ1
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view) : About this table
HBQ1 for ontologies About GeneDecksing 1 GenomeRNAi human phenotype for HBQ1 :
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Pathways & Interactionsfor HBQ1 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 HBQ1 STRING Interaction
Network Preview (showing 5 interactants - click image to see 12)5/12 Interacting proteins for HBQ1 (ENSP00000199708 4 ) via UniProtKB, MINT, STRING , and/or I2D (see all 12 )About this table Gene Ontology (GO): 1 biological process term (GO ID links to tree view) : About this table
HBQ1 for ontologies About GeneDecksing
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Drugs & Compoundsfor HBQ1 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 HBQ1 1 HMDB Compound for HBQ1 About this table Compound Synonyms
CAS
# PubMed Ids Heme (protoporphyrinato)iron (see all 19 ) 14875-96-8 --
Search CenterWatch for drugs/clinical trials and news about HBQ1 / HBAT
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Transcriptsfor HBQ1 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
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siRNAs from
OriGene ,
QIAGEN ,
shRNA from
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Tagged/untagged cDNA clones from
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SwitchGear Genomics ,
GenScript ,
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Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for HBQ1 gene: NM_005331.4 Unigene Cluster for HBQ1:
Hemoglobin, theta 1 Hs.247921 [show with all ESTs ] Unigene Representative Sequence: BM479599 1 Ensembl transcript including schematic representation, and UCSC links where relevant : ENST00000199708 (uc002cfz.3 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HBQ1 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HBQ1OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: HBQ1 (NM_005331 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HBQ1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat HBQ1
Additional cDNA sequence: BC056686.1
1 DOTS entry : DT.424549
10 AceView cDNA sequences :
NM_005331 BG944234 BC056686 BU602381 BM479599 BU599657 AA643205 CD580449 AA860203 AA679786 GeneLoc Exon Structure
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Expression for HBQ1 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 HBQ1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: --
About this image HBQ1 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table 1 LifeMap In Vivo Development Anatomical Compartment/Cell Tissue Anatomical Compartment
Cell Category (developmental path) Liver Liver Lobule Liver Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See HBQ1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for HBQ1 SOURCE GeneReport for Unigene cluster: Hs.247921 SABiosciences Custom PCR Arrays for HBQ1 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for HBQ1Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat HBQ1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat HBQ1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat HBQ1
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Orthologsfor HBQ1 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 HBQ1 gene from 3/7 species (see all 7 ) About this table
ENSEMBL Gene Tree for HBQ1 (if available)TreeFam Gene Tree for HBQ1 (if available)
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Paralogsfor HBQ1 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for HBQ1 gene HBG2 2 HBE1 2 CYGB 2 HBZ 2 HBD 2 HBG1 2 HBA2 2 HBB 2 HBA1 2 HBM 2 10 SIMAP similar genes for HBQ1 using alignment to 1 protein entry: HBAT_HUMAN :HBA2 HBA1 HBZ HBM HBG2 HBG1 HBE1 HBD HBB CYGB
HBQ1 for paralogs About GeneDecksing
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Genomic Variantsfor HBQ1 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 16 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for HBQ1 (230335 - 231180 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 5 variations for HBQ1 5 CNVs : 49664 35361 87924 5329 87928
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing HBQ1
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Disorders
/ Diseasesfor HBQ1 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
HBQ1 for disorders About GeneDecksing
OMIM gene information: 142240
OMIM disorders : --4 diseases for HBQ1 : About MalaCards alpha thalassemia hemoglobinopathy thalassemia genetic disease 1 disease from the University of Copenhagen DISEASES database for HBQ1 :Alpha thalassemia Export disorders for HBQ1 gene to outside databases
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Publicationsfor HBQ1 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 HBQ1 gene, integrated from 9 sources (see all 13 ): (articles sorted by number of sources associating them with HBQ1) Utopia : connect your pdf to the dynamic world of online information
A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. (PubMed id 16728641) 1 , 2 De Gobbi M.... Higgs D.R. (2006) 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) Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797) 1 , 2 Daniels R.J....Higgs D.R. (2001) Unique sequence organization and erythroid cell-specific nuclear factor-binding of mammalian theta 1 globin promoters. (PubMed id 2569721) 1 , 2 Kim J.H.... Shen C.-K.J. (1989) A review of the molecular genetics of the human alpha-globin gene cluster. (PubMed id 2649166) 1 , 3 Higgs D.R....Weatherall D.J. (1989) Nucleotide sequence of the human theta 1-globin gene. (PubMed id 3408475) 1 , 2 Gonzalez-Redondo J.M.... Huisman T.H.J. (1988) Structure and expression of the human theta 1 globin gene. (PubMed id 3422341) 1 , 2 Hsu S.-L....Shen C.-K.J. (1988) [Molecular characterization of two new mutations of I+A^ thalassemia in two Spanish families (mutation --(ED) and --(GP))]. (PubMed id 21453942) 1 Villegas A....AtaA_lfo GonzA!lez F. (2011) Initial characterization of the human central proteome. (PubMed id 21269460) 2 Burkard T.R.... Colinge J. (2011) Molecular diagnosis of inherited disorders: lessons f rom hemoglobinopathies. (PubMed id 16138310) 1 Patrinos G.P....Papadakis M.N. (2005)
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External Searches for HBQ1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing HBQ1 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 HBQ1 gene
(According to HUGE )
About This Section --
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Specialized Databases showing HBQ1 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 HBQ1 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for HBQ1 gene: Search GeneIP for patents involving HBQ1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor HBQ1 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 HBQ1 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for HBQ1 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for HBQ1 Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for HBQ1 Browse 3'-UTR reporter clones for miRNA target validation OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for HBQ1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for HBQ1 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 HBQ1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for HBQ1 OriGene Custom Protein Services for HBQ1 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat HBQ1 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing HBQ1 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat HBQ1 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat HBQ1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat HBQ1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat HBQ1
Search Tocris compounds for HBQ1
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat HBQ1
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Aliases for HBQ1
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