CGGBP1 Gene
protein-coding GIFtS: 46
GCID: GC03M088101
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CGG triplet repeat binding protein 1
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Aliases for CGGBP1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| CGG Triplet Repeat Binding Protein 11 2 | | CGG-Binding Protein 12 3 | | CGGBP1 2 3 | | P20-CGGBP DNA-Binding Protein2 3 | | P20-CGGBP1 | | CGG Triplet Repeat-Binding Protein 12 | | 20 KDa CGG-Binding Protein2 3 | | P20-CGG Binding Protein2 |
Export aliases for CGGBP1 gene to outside databasesPrevious GC identifers: GC03M088628 GC03M090882 GC03M087981 GC03M088022 GC03M087987 GC03M088183 |
Summaries for CGGBP1 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 CGGBP1: CGGBP1 influences expression of the FMR1 gene (MIM 309550), which is associated with the fragile X mental retardationsyndrome (MIM 300624), by specifically interacting with the 5-prime (CGG)n-3-prime repeat in its 5-prime UTR.(suppliedby OMIM, Mar 2008) UniProtKB/Swiss-Prot: CGBP1_HUMAN, Q9UFW8Function: Binds to nonmethylated 5'-d(CGG)(n)-3' trinucleotide repeats in the FMR1 promoter. May play a role inregulating FMR1 promoter Gene Wiki entry for CGGBP1
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Genomic Views for CGGBP1 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_022459.15
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the CGGBP1 gene promoter: Sp1 Meis-1b GATA-1 POU2F1 HSF2 HFH-1 POU2F1a ZIC2/Zic2 Meis-1a Meis-1 Other transcription factors
Search SABiosciences Chromatin IP Primers for CGGBP1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CGGBP1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3p12-p11.1 Ensembl cytogenetic band: 3p11.1 HGNC cytogenetic band: 3p12-p11.1CGGBP1 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 GC03M088101: view genomic region
(about GC identifiers)
Start:
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88,101,094 bp from pter |
End:
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88,199,035 bp from pter |
Size:
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97,942 bases |
Orientation:
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minus strand |
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Proteins for CGGBP1 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: CGBP1_HUMAN, Q9UFW8 (See
protein sequence)Recommended Name: CGG triplet repeat-binding protein 1 Size: 167 amino acids; 18820 Da
Subcellular location: Nucleus
Developmental stage: Expressed in fetal brain and kidney. Lower expression in fetal liver and lung
Miscellaneous: Binding is severely inhibited by complete or partial cytosine-specific DNA methylation of the bindingmotif
Sequence caution: Sequence=CAB55894.1; Type=Frameshift; Positions=149;
Secondary accessions: D3DU38 O15183Explore the universe of human proteins at neXtProt for CGGBP1: NX_Q9UFW8
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9UFW8 CGGBP1 Protein expression data from MOPED and PaxDb: About this image 
 REFSEQ proteins (3 alternative transcripts):
NP_001008391.1 NP_001182237.1 NP_003654.3 ENSEMBL proteins: ENSP00000381428 ENSP00000381429 ENSP00000420374 ENSP00000418769 ENSP00000419459 Human Recombinant Protein Products for CGGBP1:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
CGGBP1 for ontologies About GeneDecksing
CGGBP1 Antibody Products: Assay Products for CGGBP1: |
Protein
Domains / Families for CGGBP1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q9UFW8 |
Function for CGGBP1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Molecular Function: UniProtKB/Swiss-Prot Summary: CGBP1_HUMAN, Q9UFW8Function: Binds to nonmethylated 5'-d(CGG)(n)-3' trinucleotide repeats in the FMR1 promoter. May play a role inregulating FMR1 promoter Genatlas biochemistry entry for CGGBP1:nuclear protein,20kDa,specifically binding CGG triplet repeat (ds DNA,5'-d (CGG) 17-3' in FMR1 gene)
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:0003690 | double-stranded DNA binding |
TAS | 8626781 |
CGGBP1 for ontologies About GeneDecksing
Phenotypes: 4 GenomeRNAi human phenotypes for CGGBP1: Animal Models:
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 CGGBP1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CGGBP1 (see all 3) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): CGGBP1 (NM_001008390) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CGGBP1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CGGBP1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CGGBP1 |
|
Pathways & Interactions for CGGBP1 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
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CGGBP1
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
 3 Interacting proteins for CGGBP1 (Q9UFW83 ENSP000003814284) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006351 | transcription, DNA-dependent |
IEA | -- | | GO:0006355 | regulation of transcription, DNA-dependent |
IEA | -- |
CGGBP1 for ontologies About GeneDecksing
|
Drugs & Compounds for CGGBP1 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 CGGBP1 Search CenterWatch for drugs/clinical trials and news about CGGBP1 / CGBP1 
|
Transcripts for CGGBP1 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,
Sirion Biotech,
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 CGGBP1 gene (3 alternative transcripts): NM_001008390.1 NM_001195308.1 NM_003663.3 Unigene Cluster for CGGBP1: CGG triplet repeat binding protein 1 Hs.444818 [show with all ESTs]Unigene Representative Sequence: NM_0010083906 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000309534(uc003dqs.3 uc003dqt.3 uc003dqu.3) ENST00000398392(uc021xbe.1) ENST00000482016 ENST00000462901 ENST00000467332 ENST00000474441
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CGGBP1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CGGBP1 (see all 3) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 3): CGGBP1 (NM_001008390) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CGGBP1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CGGBP1  |
Additional cDNA sequence: AJ000258.1 AL117392.1 AL357195.1 BC005222.1 BC052980.1 CR456854.1 14 DOTS entries: DT.95159839 DT.92445511 DT.95159838 DT.118840 DT.92445510 DT.92445500 DT.91874114 DT.100824093 DT.120897762 DT.120897739 DT.120897774 DT.120897812 DT.92445501 DT.95329680 24/394 AceView cDNA sequences (see all 394): AI334718 BF431384 BI754470 AW572603 BG770821 AA370613 AI753034 AA449128 AA411734 AI915812 AA357653 AI608748 AI219500 BM903886 AA931196 AA196008 BM264024 AA448680 AA490512 AW020491 BM695888 AA768631 BM149413 AI400494 GeneLoc Exon Structure
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Expression for CGGBP1 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
| CGGBP1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TATGCTTAGT
 About this image See CGGBP1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for CGGBP1
SOURCE GeneReport for Unigene cluster: Hs.444818
UniProtKB/Swiss-Prot: CGBP1_HUMAN, Q9UFW8Tissue specificity: Ubiquitous. Highly expressed in placenta, thymus, lymph nodes, cerebellum and cerebral cortex. Lowexpression in other regions of the brain SABiosciences Custom PCR Arrays for CGGBP1
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CGGBP1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CGGBP1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CGGBP1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CGGBP1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CGGBP1 |
Orthologs for CGGBP1 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 chordates.
Orthologs for CGGBP1 gene from 3/10 species (see all 10) About this table
ENSEMBL Gene Tree for CGGBP1 (if available) TreeFam Gene Tree for CGGBP1 (if available)  |
Paralogs for CGGBP1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| -- |
Genomic Variants for CGGBP1 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 3 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for CGGBP1 (88101094 - 88199035 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for CGGBP1: --  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CGGBP1 |
|
Disorders
/ Diseases for CGGBP1 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
|
CGGBP1 for disorders About GeneDecksing
OMIM gene information: 603363
OMIM disorders: --
3 diseases for CGGBP1: About MalaCardsmental retardation syndrome fragile x syndrome cerebritis Export disorders for CGGBP1 gene to outside databases
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Publications for CGGBP1 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 CGGBP1 gene, integrated from 9 sources (see all 25): (articles sorted by number of sources associating them with CGGBP1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Gene structure and expression of the 5'-(CGG)(n)-3'-binding protein (CGGBP1). (PubMed id 14667814)1, 2, 3 Naumann F.... Doerfler W. (2004)
- Rapid protein sequencing by tandem mass spectrometry and cDNA cloning of p20-CGGBP. A novel protein that binds to the unstable triplet repeat 5'-d(CGG)n-3' in the human FMR1 gene. (PubMed id 9201980)1, 2, 3 Deissler H.... Doerfler W. (1997)
- 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)
- The human 20-kDa 5'-(CGG)(n)-3'-binding protein is targeted to the nucleus and affects the activity of the FMR1 promoter. (PubMed id 10692448)1, 9 Muller-Hartmann H....Doerfler W. (2000)
- Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- CGGBP1 regulates cell cycle in cancer cells. (PubMed id 21733196)1 Singh U....Westermark B. (2011)
- Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
- [The role of ZF5 and CGGBP-20 transcription factors i n expression regulation of human FMR1 gene responsible for X-fragile syndrome] (PubMed id 20141036)1 GulyA- P.V....Perevozchikov A.P. (2009)
- Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
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External Searches for CGGBP1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
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Genome Databases showing CGGBP1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CGGBP1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CGGBP1 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 CGGBP1 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for CGGBP1 gene: Search GeneIP for patents involving CGGBP1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for CGGBP1 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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory) About This Section
|
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 | |
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| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for CGGBP1 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CGGBP1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CGGBP1 | | OriGene Protein Over-expression Lysate for CGGBP1 | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for CGGBP1 | | OriGene 3'-UTR Clone for CGGBP1 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CGGBP1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CGGBP1 | | 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 CGGBP1 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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 | | CGGBP1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CGGBP1 |
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| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CGGBP1 |
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