SETD1B Gene
protein-coding GIFtS: 50
GCID: GC12P122243
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SET domain containing 1B
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Aliases for SETD1B gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| SET Domain Containing 1B1 2 | | SET Domain-Containing Protein 1B2 3 | | KMT2G1 2 3 | | EC 2.1.1.433 8 | | KIAA10761 3 5 | | SET1B3 5 | | Set1B1 2 | | Histone-Lysine N-Methyltransferase SETD1B2 | | Lysine N-Methyltransferase 2G2 3 | | EC 2.1.18 | | HSET1B1 | | |
Export aliases for SETD1B gene to outside databasesPrevious GC identifers: GC12P120726 GC12P119254 |
Summaries for SETD1B 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 SETD1B: SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al.,2007 (PubMed 17355966)).(supplied by OMIM, Mar 2008) UniProtKB/Swiss-Prot: SET1B_HUMAN, Q9UPS6Function: Histone methyltransferase that specifically methylates 'Lys-4' of histone H3, when part of the SET1 histonemethyltransferase (HMT) complex, but not if the neighboring 'Lys-9' residue is already methylated. H3 'Lys-4'methylation represents a specific tag for epigenetic transcriptional activation. The non-overalpping localization withSETD1A suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic control of chromatinstructure and gene expression. Specifically tri-methylates 'Lys-4' of histone H3 in vitro
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Genomic Views for SETD1B 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_000012.11 NC_018923.1 NT_009775.17
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SETD1B gene promoter: AhR USF1 MyoD Olf-1 Lmo2 Ik-3 AREB6 HOXA5 USF-1 Other transcription factors
Search SABiosciences Chromatin IP Primers for SETD1B
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SETD1B |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 12q24.31 Ensembl cytogenetic band: 12q24.31 HGNC cytogenetic band: 12q24.31SETD1B Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 12 GeneLoc Exon Structure GeneLoc location for GC12P122243: view genomic region
(about GC identifiers)
Start:
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122,242,086 bp from pter |
End:
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122,270,562 bp from pter |
Size:
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28,477 bases |
Orientation:
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plus strand |
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Proteins for SETD1B gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
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: SET1B_HUMAN, Q9UPS6 (See
protein sequence)Recommended Name: Histone-lysine N-methyltransferase SETD1B Size: 1923 amino acids; 208732 Da
Subunit: Component of the SET1 complex, at least composed of the catalytic subunit (SETD1A or SETD1B), WDR5, WDR82,RBBP5, ASH2L/ASH2, CXXC1/CFP1, HCFC1 and DPY30. Interacts with HCFC1 and ASH2L/ASH2. Interacts (via the RRM domain)with WDR82. Interacts (via the RRM domain) with hyperphosphorylated C-terminal domain (CTD) of RNA polymerase II largesubunit (POLR2A) only in the presence of WDR82. Binds specifically to CTD heptad repeats phosphorylated on 'Ser-5' ofeach heptad
Subcellular location: Nucleus speckle. Chromosome. Note=Localizes to a largely non-overlapping set of euchromaticnuclear speckles with SETD1A, suggesting that SETD1A and SET1B each bind to a unique set of target genes
2 PDB 3D structures from and Proteopedia for SETD1B:3UVO (3D)
  4ES0 (3D)
 Explore the universe of human proteins at neXtProt for SETD1B: NX_Q9UPS6
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UPS6 4/26 DME Specific Peptides for SETD1B (Q9UPS6) (see all 26)
SETD1B Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_055863.1 ENSEMBL proteins: ENSP00000442924 ENSP00000267197 Human Recombinant Protein Products:
Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table
SETD1B for ontologies About GeneDecksing
SETD1B Antibody Products: Assay Products for SETD1B: |
Protein
Domains / Families for SETD1B gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SETD1B for domains About GeneDecksing
5/6 InterPro domains/families (see all 6):Graphical View of Domain Structure for InterPro Entry Q9UPS6ProtoNet protein and cluster: Q9UPS6 1 Blocks protein family: IPB001214 Nuclear protein SET
UniProtKB/Swiss-Prot: SET1B_HUMAN, Q9UPS6Similarity: Contains 1 post-SET domainSimilarity: Contains 1 RRM (RNA recognition motif) domainSimilarity: Contains 1 SET domain |
Function for SETD1B gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
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: SET1B_HUMAN, Q9UPS6Function: Histone methyltransferase that specifically methylates 'Lys-4' of histone H3, when part of the SET1 histonemethyltransferase (HMT) complex, but not if the neighboring 'Lys-9' residue is already methylated. H3 'Lys-4'methylation represents a specific tag for epigenetic transcriptional activation. The non-overalpping localization withSETD1A suggests that SETD1A and SETD1B make non-redundant contributions to the epigenetic control of chromatinstructure and gene expression. Specifically tri-methylates 'Lys-4' of histone H3 in vitroCatalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +N(6)-methyl-L-lysine-[histone]Enzyme Numbers (IUBMB): EC 2.1.1.431 2 EC 2.1.12
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 SETD1B (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SETD1B OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: SETD1B (NM_015048) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SETD1B | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SETD1B  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETD1B |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
SETD1B for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for SETD1B:
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Pathways & Interactions for SETD1B 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 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
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 | Lysine degradation | |
Pathway sources See GeneCards unified pathways Show all pathways
1
Kegg Pathway (Kegg details for SETD1B):
SETD1B for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SETD1B
STRING Interaction
Network Preview (showing 5 interactants - click image to see 15)
 5/25 Interacting proteins for SETD1B (Q9UPS63 ENSP000002671974) via UniProtKB, MINT, STRING, and/or I2D (see all 25)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
SETD1B for ontologies About GeneDecksing
|
Drugs & Compounds for SETD1B 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 SETD1B
2 HMDB Compounds for SETD1B About this table Search CenterWatch for drugs/clinical trials and news about SETD1B / SET1B 
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Transcripts for SETD1B 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 SETD1B gene: NM_015048.1 Unigene Cluster for SETD1B: SET domain containing 1B Hs.507122 [show with all ESTs]Unigene Representative Sequence: NM_0150482 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000542440(uc021rfg.1) ENST00000267197(uc001ubi.3)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SETD1B (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SETD1B OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: SETD1B (NM_015048) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SETD1B | |  | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SETD1B  |
Additional cDNA sequence: AB028999.1 AK000810.1 BC047909.1 BC080192.1 JF813787.1 7 DOTS entries: DT.97762576 DT.121178241 DT.91759659 DT.86851377 DT.121187263 DT.102832698 DT.433511 1 AceView cDNA sequence: BF195596 GeneLoc Exon Structure
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Expression for SETD1B 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
| SETD1B expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TACAGCCTCC
About this image See SETD1B Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SETD1B
SOURCE GeneReport for Unigene cluster: Hs.507122 SABiosciences Expression via Pathway-Focused PCR Array including SETD1B: | Epigenetic Chromatin Modification Enzymes in human mouse rat |
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SETD1B Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SETD1B | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SETD1B | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SETD1B | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETD1B |
Orthologs for SETD1B gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for SETD1B gene from 8/25 species (see all 25) About this table
ENSEMBL Gene Tree for SETD1B (if available) TreeFam Gene Tree for SETD1B (if available)  |
Paralogs for SETD1B gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for SETD1B gene
- MLL22 MLL42 MLL2 MLL32 SETD1A2
1 SIMAP similar gene for SETD1B using alignment to 2 protein entries: SET1B_HUMAN (see all proteins):DKFZp686C08112
SETD1B for paralogs About GeneDecksing
|
Genomic Variants for SETD1B gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
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 12 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for SETD1B (122242086 - 122270562 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for SETD1B 2 CNVs: 76169 48966  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SETD1B |
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Disorders
/ Diseases for SETD1B 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
|
SETD1B for disorders About GeneDecksing
OMIM gene information: 611055
OMIM disorders: --
2 diseases for SETD1B: About MalaCardshomocysteine leukemia Export disorders for SETD1B gene to outside databases
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Publications for SETD1B gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for SETD1B gene, integrated from 9 sources (see all 17): (articles sorted by number of sources associating them with SETD1B) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Identification and characterization of the human Set1B histone H3- Lys4 methyltransferase complex. (PubMed id 17355966)1, 2, 3 Lee J.-H.... Skalnik D.G. (2007)
- Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10470851)1, 2, 3 Kikuno R....Ohara O. (1999)
- Molecular regulation of H3K4 trimethylation by Wdr82, a component of human Set1/COMPASS. (PubMed id 18838538)1, 2 Wu M....Shilatifard A. (2008)
- Wdr82 is a C-terminal domain-binding protein that recruits the Setd1A Histone H3-Lys4 methyltransferase complex to transcription start sites of transcribed human genes. (PubMed id 17998332)1, 2 Lee J.H. and Skalnik D.G. (2008)
- Rbm15-Mkl1 interacts with the Setd1b histone H3-Lys4 m ethyltransferase via a SPOC domain that is required for cytokine-independent pro liferation. (PubMed id 22927943)1 Lee J.H. and Skalnik D.G. (2012)
- A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
- The plasticity of WDR5 peptide-binding cleft enables t he binding of the SET1 family of histone methyltransferases. (PubMed id 22266653)1 Zhang P....Couture J.F. (2012)
- Structural basis for WDR5 interaction (Win) motif reco gnition in human SET1 family histone methyltransferases. (PubMed id 22665483)1 Dharmarajan V....Cosgrove M.S. (2012)
- A lentiviral functional proteomics approach identifies chromatin remodeling complexes important for the induction of pluripotency. (PubMed id 20305087)1 Mak A.B....Moffat J. (2010)
- Identification and characterization of a novel human PP1 phosphatase complex. (PubMed id 20516061)1 Lee J.H....Skalnik D.G. (2010)
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External Searches for SETD1B gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SETD1B gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SETD1B gene
(According to HUGE)
About This Section
| |
Specialized Databases showing SETD1B 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 SETD1B | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for SETD1B gene: Search GeneIP for patents involving SETD1B
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for SETD1B 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
|
 | |
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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SETD1B | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SETD1B | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SETD1B | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SETD1B | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SETD1B | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SETD1B |
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 |  |  |  | |
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 | | SETD1B Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SETD1B |
|  |  |  | | | Search ThermoFisher Antibodies for SETD1B |
| | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat SETD1B |
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