H2AFB3 Gene
protein-coding GIFtS: 44
GCID: GC0XM154689
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H2A histone family, member B3(Previous names: H2A histone family, member B ) (Previous symbol: H2AFB)
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Aliases for H2AFB3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| H2A Histone Family, Member B31 2 | | H2A Barr Body-Deficient2 3 | | H2AFB1 2 3 | | H2A Histone Family, Member B1 | | H2A.Bbd2 3 | | Histone H2A-Bbd Type 2/32 | | H2ABBD2 3 | | Histone Variant H2A, Barr-Body Deficient2 |
Export aliases for H2AFB3 gene to outside databasesPrevious GC identifers: GC0XP154174 GC0XM154342 GC0XP143154 |
Summaries for H2AFB3 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 H2AFB3: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber ineukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs ofeach of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through theinteraction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures.This gene encodes a member of the histone H2A family. This gene is part of a region that is repeated three times onchromosome X, once in intron 22 of the F8 gene and twice closer to the Xq telomere. This record represents the mosttelomeric copy. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: H2AB2_HUMAN, P0C5Z0Function: Atypical histone H2A which can replace conventional H2A in some nucleosomes and is associated with activetranscription and mRNA processing. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to thecellular machineries which require DNA as a template. Histones thereby play a central role in transcriptionregulation, DNA repair, DNA replication and chromosomal stability. Nucleosomes containing this histone are less rigidand organize less DNA than canonical nucleosomes in vivo. They are enriched in actively transcribed genes andassociate with the elongating form of RNA polymerase. They associate with spliceosome components and are required formRNA splicing. May participate in spermatogenesis
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Genomic Views for H2AFB3 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_000023.10 NT_167198.1
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the H2AFB3 gene promoter: Pax-5 MyoD Olf-1 AP-4 En-1 Other transcription factors
Search SABiosciences Chromatin IP Primers for H2AFB3
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat H2AFB3 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xq28 Ensembl cytogenetic band: Xq28 HGNC cytogenetic band: Xq28H2AFB3 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM154689: view genomic region
(about GC identifiers)
Start:
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154,689,080 bp from pter |
End:
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154,689,596 bp from pter |
Size:
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517 bases |
Orientation:
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minus strand |
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Proteins for H2AFB3 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: H2AB2_HUMAN, P0C5Z0 (See
protein sequence)Recommended Name: Histone H2A-Bbd type 2/3 Size: 115 amino acids; 12713 Da
Subunit: The nucleosome is a histone octamer containing two molecules each of H2A, H2B, H3 and H4 assembled in oneH3-H4 heterotetramer and two H2A-H2B heterodimers. May be incorporated into a proportion of nucleosomes, replacing oneor more H2A molecules
Subcellular location: Nucleus. Chromosome. Note=Associated with the active X chromosome and with autosomes, while it isabsent from the inactive X chromosome and excluded from Barr bodies
Miscellaneous: In contrast to other H2A histones, it does not contain the conserved residues that are the target ofpost-translational modifications
Secondary accessions: A1L4E4 P98176 Q5TZB2 Q6FG78 Q96PR7Explore the universe of human proteins at neXtProt for H2AFB3: NX_P0C5Z0
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P0C5Z0 H2AFB3 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_542451.1 ENSEMBL proteins: ENSP00000358452 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
H2AFB3 for ontologies About GeneDecksing
H2AFB3 Antibody Products: Assay Products for H2AFB3: |
Protein
Domains / Families for H2AFB3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
H2AFB3 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P0C5Z0ProtoNet protein and cluster: P0C5Z0 UniProtKB/Swiss-Prot: H2AB2_HUMAN, P0C5Z0Domain: The docking domain is responsible for the weaker heterodimerization with H2BSimilarity: Belongs to the histone H2A family |
Function for H2AFB3 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: H2AB2_HUMAN, P0C5Z0Function: Atypical histone H2A which can replace conventional H2A in some nucleosomes and is associated with activetranscription and mRNA processing. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to thecellular machineries which require DNA as a template. Histones thereby play a central role in transcriptionregulation, DNA repair, DNA replication and chromosomal stability. Nucleosomes containing this histone are less rigidand organize less DNA than canonical nucleosomes in vivo. They are enriched in actively transcribed genes andassociate with the elongating form of RNA polymerase. They associate with spliceosome components and are required formRNA splicing. May participate in spermatogenesis
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 H2AFB3 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for H2AFB3 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003677 | DNA binding |
-- | -- |
H2AFB3 for ontologies About GeneDecksing
|
Pathways & Interactions for H2AFB3 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 |
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| 1 | Systemic lupus erythematosus | |
Pathway sources See GeneCards unified pathways Show all pathways
1
Kegg Pathway (Kegg details for H2AFB3):
H2AFB3 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for H2AFB3
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006334 | nucleosome assembly |
-- | -- |
H2AFB3 for ontologies About GeneDecksing
|
Drugs & Compounds for H2AFB3 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 H2AFB3 Search CenterWatch for drugs/clinical trials and news about H2AFB3 / H2AB2 
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Transcripts for H2AFB3 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 H2AFB3 gene: NM_080720.1 Unigene Cluster for H2AFB3: H2A histone family, member B3 Hs.632841 Unigene Representative Sequence: BC1305121 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000369444(uc004fnk.3)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for H2AFB3 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for H2AFB3 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: H2AFB3 (NM_080720) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for H2AFB3 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat H2AFB3  |
Additional cDNA sequence: BC101409.1 BC130512.1 BC134365.1 2 DOTS entries: DT.121303715 DT.410848 16 AceView cDNA sequences: BM722299 AF254576 AI218259 AW183040 BU740141 AA703660 AI018669 AA428596 AA993742 AA868831 AA879431 AA432232 AI205744 AA912999 AI204297 AI218431 GeneLoc Exon Structure
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Expression for H2AFB3 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
| H2AFB3 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: --
About this image See H2AFB3 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for H2AFB3
SOURCE GeneReport for Unigene cluster: Hs.632841 UniProtKB/Swiss-Prot: H2AB2_HUMAN, P0C5Z0Tissue specificity: Present in mature sperm SABiosciences Custom PCR Arrays for H2AFB3
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for H2AFB3 Browse OriGene validated miRNA SYBR primer pairs
| |  | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat H2AFB3 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat H2AFB3 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat H2AFB3 |
Orthologs for H2AFB3 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 H2AFB3 gene from 6/21 species (see all 21) About this table
ENSEMBL Gene Tree for H2AFB3 (if available) TreeFam Gene Tree for H2AFB3 (if available)  |
Paralogs for H2AFB3 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for H2AFB3 gene
- H2AFB21 2 H2AFB11 2
18/25 SIMAP similar genes for H2AFB3 using alignment to 1 protein entry: H2AB2_HUMAN(see all similar genes):H2AFB1 H2AFX HIST1H2AA HIST1H2AB HIST1H2AC HIST1H2AD HIST1H2AE HIST1H2AG HIST1H2AH HIST1H2AI HIST1H2AJ HIST1H2AK HIST1H2AL HIST1H2AM HIST1H2APS4 HIST2H2AA3 HIST2H2AA4 HIST2H2AB
H2AFB3 for paralogs About GeneDecksing
|
Genomic Variants for H2AFB3 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 X pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for H2AFB3 (154689080 - 154689596 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 14 variations for H2AFB3 2 CNVs: 97110 23331 10 Indels: 97118 83877 97122 97124 97126 83875 97125 97121 83878 97123 2 Inversions: 37368 37367  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing H2AFB3 |
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Disorders
/ Diseases for H2AFB3 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
|
H2AFB3 for disorders About GeneDecksing
OMIM gene information: 300445
OMIM disorders: --
4 diseases for H2AFB3: About MalaCardssystemic lupus erythematosus lupus erythematosus immunodeficiency malaria Export disorders for H2AFB3 gene to outside databases
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Publications for H2AFB3 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 H2AFB3 gene, integrated from 9 sources (see all 18): (articles sorted by number of sources associating them with H2AFB3) | |  | Utopia: connect your pdf to the dynamic world of online information |
- The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
- Assembly and disassembly of nucleosome core particles containing histone variants by human nucleosome assembly protein I. (PubMed id 16287874)1, 2 Okuwaki M.... Nagata K. (2005)
- 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)
- Nucleosomes containing the histone variant H2A.Bbd organize only 118 base pairs of DNA. (PubMed id 15257289)1, 2 Bao Y.... Luger K. (2004)
- A novel chromatin protein, distantly related to histone H2A, is largely excluded from the inactive X chromosome. (PubMed id 11266453)1, 2 Chadwick B.P. and Willard H.F. (2001)
- Histone variant H2A.Bbd is associated with active transcription and mRNA processing in human cells. (PubMed id 22795134)2 Tolstorukov M.Y....Park P.J. (2012)
- H2A.Bbd: an X-chromosome-encoded histone involved in mammalian spermiogenesis. (PubMed id 20008104)2 Ishibashi T.... Ausio J. (2010)
- Quickly evolving histones, nucleosome stability and chromatin folding: all about histone H2A.Bbd. (PubMed id 18329190)2 Gonzalez-Romero R.... Eirin-Lopez J.M. (2008)
- H2A.Bbd: a quickly evolving hypervariable mammalian histone that destabilizes nucleosomes in an acetylation-independent way. (PubMed id 17726088)2 Eirin-Lopez J.M.... Ausio J. (2008)
- Dissection of the unusual structural and functional properties of the variant H2A.Bbd nucleosome. (PubMed id 16957777)2 Doyen C.M.... Dimitrov S. (2006)
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External Searches for H2AFB3 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
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Genome Databases showing H2AFB3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing H2AFB3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing H2AFB3 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 H2AFB3 | Pharmacogenomics, SNPs, Pathways | | Wikipedia | http://en.wikipedia.org/wiki/Histone_H2A |
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| | |
About This Section
| Patent Information for H2AFB3 gene: Search GeneIP for patents involving H2AFB3
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for H2AFB3 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 H2AFB3 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing H2AFB3 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat H2AFB3 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat H2AFB3 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat H2AFB3 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat H2AFB3 |
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 | | H2AFB3 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  | | | ThermoFisher Antibody for H2AFB3 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat H2AFB3 |
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