CCDC28B Gene
protein-coding GIFtS : 47
GCID: GC01 P032666
coiled-coil domain containing 28B
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Aliasesfor CCDC28B 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 Coiled-Coil Domain Containing 28B 1 2 RP4-622L5.51 2 MGC12031 Coiled-Coil Domain-Containing Protein 28B2
Export aliases for CCDC28B gene to outside databases Previous GC identifers: GC01P032336 GC01P032438 GC01P030782
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Summariesfor CCDC28B 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 CCDC28B : The product of this gene localizes to centrosomes and basal bodies. It interacts and colocalizes with several proteins associated with Bardet-Biedl syndrome (BBS). (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: CC28B_HUMAN, Q9BUN5 Function : Involved in ciliogenesisGene Wiki entry for CCDC28B
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Genomic Viewsfor CCDC28B 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_000001.10 NC_018912.1 NT_032977.9 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the CCDC28B gene promoter: NF-1 HSF1 (long) E47 Pax-3 POU2F1 POU2F1a STAT3 Hand1 HSF1short Other transcription factors Search SABiosciences Chromatin IP Primers for CCDC28B Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat CCDC28B
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 1p36.11-p34.2 Ensembl cytogenetic band: 1p35.1 HGNC cytogenetic band: 1p36.11-p34.2 CCDC28B Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 1 GeneLoc Exon Structure
GeneLoc location for GC01P032666: view genomic region
(about GC identifiers )
Start:
32,665,987 bp from pter
End:
32,670,991 bp from pter
Size:
5,005 bases
Orientation:
plus strand
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Proteinsfor CCDC28B 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: CC28B_HUMAN, Q9BUN5 (See
protein sequence )Recommended Name: Coiled-coil domain-containing protein 28B Size : 200 amino acids; 22037 Da
Subunit : Interacts with BBS1, BBS2, BBS4, BBS5, BBS6, BBS7 AND BBS8
Subcellular location : Cytoplasm, cytoskeleton, centrosome. Note=It localizes near centrosomes and basal bodies
Sequence caution : Sequence=CAI22057.1; Type=Erroneous gene model prediction;
Secondary accessions : A8K789 Q8TBV8Explore the universe of human proteins at neXtProt for CCDC28B: NX_Q9BUN5 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q9BUN5 CCDC28B Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_077272.2 ENSEMBL proteins: ENSP00000362704 ENSP00000435036 ENSP00000413017 ENSP00000431257 Human Recombinant Protein Products: Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view) : About this table
CCDC28B for ontologies About GeneDecksing CCDC28B Antibody Products: Assay Products for CCDC28B:
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Protein
Domains / Familiesfor CCDC28B gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
CCDC28B for domains About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry Q9BUN5 ProtoNet protein and cluster: Q9BUN5
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Functionfor CCDC28B 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: CC28B_HUMAN, Q9BUN5 Function : Involved in ciliogenesis
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 CCDC28B (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CCDC28BOriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: CCDC28B (NM_024296 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CCDC28B Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CCDC28B
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view) : About this table
CCDC28B for ontologies About GeneDecksing
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Pathways & Interactionsfor CCDC28B 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 CCDC28B 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:0042384 cilium assembly
IMP --
CCDC28B for ontologies About GeneDecksing
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Drugs & Compoundsfor CCDC28B 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 CCDC28B Search CenterWatch for drugs/clinical trials and news about CCDC28B / CC28B
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Transcriptsfor CCDC28B 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 CCDC28B gene: NM_024296.3 Unigene Cluster for CCDC28B:
Coiled-coil domain containing 28B Hs.743335 [show with all ESTs ] Unigene Representative Sequence: AK126027 5 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000373602 (uc001bul.1 ) ENST00000469003 ENST00000421922 (uc021okt.1 )ENST00000461819 ENST00000483009 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for CCDC28B (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CCDC28BOriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: CCDC28B (NM_024296 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CCDC28B Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CCDC28B
Additional cDNA sequence: AK092702.1 AK126027.1 AK225113.1 AK291904.1 BC022848.2
5 DOTS entries : DT.215092 DT.100748653
DT.86840926 DT.91919747 DT.99935076 24/332 AceView cDNA sequences (see all 332 ):
BE857092 AL121132 AI816489 AI146364 AI816316 AF516206 NM_024296 BU538767 CB134982 BU506849 AI816239 BC022848 AA376284 BM053066 BQ478129 AL713662 BM766498 AA724204 AI932678 AI222530 CN480364 AI126691 BE513525 AW026588 GeneLoc Exon Structure
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Expression for CCDC28B 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 CCDC28B expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GTGGCTCAGC
About this image CCDC28B 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 Sclerotome cells (Primary Cell)Bone, Cartilage, Somite Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See CCDC28B Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for CCDC28B SOURCE GeneReport for Unigene cluster: Hs.743335 SABiosciences Custom PCR Arrays for CCDC28B Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for CCDC28BBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat CCDC28B QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat CCDC28B QIAGEN QuantiFast Probe-based Assays in human , mouse , rat CCDC28B
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Orthologsfor CCDC28B 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 animals.
Orthologs for CCDC28B gene from 5/16 species (see all 16 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
CCDC28B1
coiled-coil domain containing 28B
73.26(n) 70.35(a)
 
419647 XM_003642571.1 XP_003642619.1
lizard (Anolis carolinensis)
Reptilia
CCDC28B6
--
71(a)
1 ↔ 1
GL343706.1(137442-143725)
African clawed frog (Xenopus laevis)
Amphibia
Xl.97392
Xenopus laevis transcribed sequence with weak similarity more
80.19(n)
 
CA973705.1
zebrafish (Danio rerio)
Actinopterygii
ccdc28b1
coiled-coil domain containing 28B
66.11(n) 66.67(a)
 
559814 NM_001145573.1 NP_001139045.1
fruit fly (Drosophila melanogaster)
Insecta
CG108746
--
18(a)
1 → many
2L(2189913-2192371)
ENSEMBL Gene Tree for CCDC28B (if available)TreeFam Gene Tree for CCDC28B (if available)
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Paralogsfor CCDC28B gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for CCDC28B gene CCDC28A 2 1 SIMAP similar gene for CCDC28B using alignment to 3 protein entries: CC28B_HUMAN (see all proteins ):CCDC28A
CCDC28B for paralogs About GeneDecksing
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Genomic Variantsfor CCDC28B 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 1 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for CCDC28B (32665987 - 32670991 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for CCDC28B: -- Human Gene Mutation Database (HGMD) : CCDC28B SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing CCDC28B
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Disorders
/ Diseasesfor CCDC28B 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
CCDC28B for disorders About GeneDecksing
OMIM gene information: 610162
OMIM disorders : --UniProtKB/Swiss-Prot: CC28B_HUMAN, Q9BUN5
Note=Phenotypic expression of Bardet-Biedl syndrome (BBS) can be modulated by genetic variations in CCDC28B (PubMed:16327777). Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome influence the clinical outcome 7 diseases for CCDC28B : About MalaCards bardet-biedl syndrome bardet-biedl syndrome 1 congenital nystagmus maculopathy nystagmus retinal disease retinitis 1 disease from the University of Copenhagen DISEASES database for CCDC28B :Congenital nystagmus Human Genome Epidemiology (HuGE) Navigator: CCDC28B (1 document)Export disorders for CCDC28B gene to outside databases
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Publicationsfor CCDC28B 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 CCDC28B gene, integrated from 9 sources (see all 15 ): (articles sorted by number of sources associating them with CCDC28B) Utopia : connect your pdf to the dynamic world of online information
Dissection of epistasis in oligogenic Bardet-Biedl syndrome. (PubMed id 16327777) 1 , 2 , 3 Badano J.L....Katsanis N. (2006) The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414) 1 , 2 Gregory S.G.... Bentley 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) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 Ota T.... Sugano S. (2004) Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome. (PubMed id 23015189) 2 Cardenas-Rodriguez M.... Badano J.L. (2013) Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049) 1 OlA!h J....OvA!di J. (2011) Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332) 2 Mayya V.... Han D.K. (2009) BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. (PubMed id 19402160) 1 Bin J....HAcon E. (2009) hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965) 1 Lamesch P.... Vidal M. (2007) Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560) 1 Kimura K.... Sugano S. (2006)
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External Searches for CCDC28B gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing CCDC28B 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 CCDC28B gene
(According to HUGE )
About This Section --
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Specialized Databases showing CCDC28B 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 CCDC28B Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for CCDC28B gene: Search GeneIP for patents involving CCDC28B GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor CCDC28B 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 CCDC28B OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for CCDC28B OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for CCDC28B OriGene Protein Over-expression Lysate for CCDC28B Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for CCDC28B OriGene 3'-UTR Clone for CCDC28B OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CCDC28B OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for CCDC28B 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 CCDC28B OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for CCDC28B OriGene Custom Protein Services for CCDC28B OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CCDC28B QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing CCDC28B QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat CCDC28B QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat CCDC28B QIAGEN QuantiFast Probe-based Assays in human , mouse , rat CCDC28B QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat CCDC28B
Search Tocris compounds for CCDC28B
CCDC28B Proteins, Antibodies, CLIAs, and ELISAs
ThermoFisher Antibodies for CCDC28B
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CCDC28B
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