CHCHD2 Gene
protein-coding GIFtS : 48
GCID: GC07 M056136
coiled-coil-helix-coiled-coil-helix domain containing 2 (Previous name: chromosome 7 open reading frame 17 ) (Previous symbol: C7orf17 )
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Aliasesfor CHCHD2 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-Helix-Coiled-Coil-Helix Domain Containing 2 1 2 HCV NS2 Trans-Regulated Protein2 3 C7orf171 2 3 Chromosome 7 Open Reading Frame 171 Aging-Associated Gene 10 Protein2 3 16.7kD Protein2 NS2TP2 3 Coiled-Coil-Helix-Coiled-Coil-Helix Domain-Containing Protein 2, Mitochondrial2
Export aliases for CHCHD2 gene to outside databases Previous GC identifers: GC07M055911 GC07M055943 GC07M055983
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Summariesfor CHCHD2 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section --
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Genomic Viewsfor CHCHD2 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_000007.13 NC_018918.1 NT_033968.6 NT_079592.2 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the CHCHD2 gene promoter: FOXF2 Pax-5 NRSF form 1 HEN1 CP2 FOXO4 SEF-1 (1) NF-Y CBF(2) Hlf Other transcription factors Search SABiosciences Chromatin IP Primers for CHCHD2 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat CHCHD2
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 7p11.2 Ensembl cytogenetic band: 7p11.2 HGNC cytogenetic band: 7p11.2 CHCHD2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 7 GeneLoc Exon Structure
GeneLoc location for GC07M056136: view genomic region
(about GC identifiers )
Start:
56,169,262 bp from pter
End:
56,174,269 bp from pter
Size:
5,008 bases
Orientation:
minus strand
1 alternative location : Chr 7-,CRA_TCAG 56,173,513-56,178,434
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Proteinsfor CHCHD2 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: CHCH2_HUMAN, Q9Y6H1 (See
protein sequence )Recommended Name: Coiled-coil-helix-coiled-coil-helix domain-containing protein 2, mitochondrial precursor Size : 151 amino acids; 15513 Da
Subcellular location : Mitochondrion (By similarity)
Secondary accessions : Q498C3 Q6NZ50Explore the universe of human proteins at neXtProt for CHCHD2: NX_Q9Y6H1 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q9Y6H1 CHCHD2 Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins: NP_057223.1 ENSEMBL proteins: ENSP00000378812 Human Recombinant Protein Products for CHCHD2: 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:0005739 mitochondrion
IEA --
CHCHD2 for ontologies About GeneDecksing CHCHD2 Antibody Products: Assay Products for CHCHD2:
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Protein
Domains / Familiesfor CHCHD2 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
CHCHD2 for domains About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry Q9Y6H1 ProtoNet protein and cluster: Q9Y6H1
1 Blocks protein family : IPB010625 CHCH UniProtKB/Swiss-Prot: CHCH2_HUMAN, Q9Y6H1 Similarity : Contains 1 CHCH domain
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Functionfor CHCHD2 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
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 Phenotypes: 1 GenomeRNAi human phenotype for CHCHD2 :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 CHCHD2 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CHCHD2 (see all 2 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: CHCHD2 (NM_016139 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CHCHD2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CHCHD2
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Pathways & Interactionsfor CHCHD2 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 CHCHD2 STRING Interaction
Network Preview (showing 3 interactants - click image to see more details)4 Interacting proteins for CHCHD2 (Q9Y6H1 3 ENSP00000378812 4 ) via UniProtKB, MINT, STRING , and/or I2D About this table
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Drugs & Compoundsfor CHCHD2 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 CHCHD2 Search CenterWatch for drugs/clinical trials and news about CHCHD2 / CHCH2
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Transcriptsfor CHCHD2 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 CHCHD2 gene: NM_016139.2 Unigene Clusters for CHCHD2:
Coiled-coil-helix-coiled-coil-helix domain containing 2 Hs.389996 [show with all ESTs ] , Hs.547257 [show with all ESTs ] Unigene Representative Sequences: BM553650 , BM471068 2 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000395422 (uc003tsa.3 ) ENST00000473095 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for CHCHD2 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CHCHD2 (see all 2 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: CHCHD2 (NM_016139 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CHCHD2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CHCHD2
Additional cDNA sequence: AY605046.1 AY633613.1
24/37 DOTS entries (see all 37 ): DT.95292050 DT.95305151
DT.100679363 DT.100679366 DT.100679371 DT.120353 DT.87016294 DT.100679360 DT.99942367 DT.97862629 DT.92462189 DT.121122232 DT.121122293 DT.121354687 DT.121148236 DT.121122252 DT.121122239 DT.100679372 DT.87003640 DT.95291985 DT.95292053 DT.100039455 DT.100679367 DT.121122385 24/1150 AceView cDNA sequences (see all 1150 ):
BM997640 AA297519 AI708365 CB993632 AW196833 CD367643 BQ068736 BM737850 AW405648 CA777191 CB121216 BM312401 BM478737 BE312296 AA083578 BQ632406 BQ380020 BU168699 AA928308 BQ231463 BC003079 BU951849 BU506803 BQ434877 GeneLoc Exon Structure
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Expression for CHCHD2 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 CHCHD2 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: GCCCCTCCGGAbout this image CHCHD2 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) Ovary Primary Follicle Primary Oocyte Female Gametocytes, Germ Cells Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See CHCHD2 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for CHCHD2 SOURCE GeneReport for Unigene clusters: Hs.389996 Hs.547257 SABiosciences Custom PCR Arrays for CHCHD2 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for CHCHD2Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat CHCHD2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat CHCHD2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat CHCHD2
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Orthologsfor CHCHD2 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 CHCHD2 gene from 5/21 species (see all 21 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
CHCHD21
coiled-coil-helix-coiled-coil-helix domain containing more
78.57(n) 83.33(a)
 
417544 NM_001006218.1 NP_001006218.1
African clawed frog (Xenopus laevis)
Amphibia
480430002
--
75.04(n)
 
48043000
zebrafish (Danio rerio)
Actinopterygii
zgc732662
hypothetical protein MGC73266
75.18(n)
 
393740 BC059598.1
fruit fly (Drosophila melanogaster)
Insecta
CG50101
CG5010
57.38(n) 56.43(a)
 
32701 NM_132968.1 NP_573196.1
worm (Caenorhabditis elegans)
Secernentea
har-11
Protein HAR-1
54.2(n) 54.2(a)
 
175529 NM_065425.2 NP_497826.1
ENSEMBL Gene Tree for CHCHD2 (if available)TreeFam Gene Tree for CHCHD2 (if available)
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Paralogsfor CHCHD2 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for CHCHD2 gene CHCHD10 2 2 SIMAP similar genes for CHCHD2 using alignment to 1 protein entry: CHCH2_HUMAN :CHCHD2P9 CHCHD10
CHCHD2 for paralogs About GeneDecksing 5/13 Pseudogenes.org Pseudogenes for CHCHD2 (see all 13 )PGOHUM00000248386 PGOHUM00000248553 PGOHUM00000234662 PGOHUM00000244108 PGOHUM00000244613
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Genomic Variantsfor CHCHD2 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 7 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for CHCHD2 (56169262 - 56174269 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for CHCHD2 1 CNV : 64828
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing CHCHD2
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Disorders
/ Diseasesfor CHCHD2 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
CHCHD2 for disorders About GeneDecksing 3 diseases for CHCHD2 : About MalaCards fanconi's anemia anemia twinning Human Genome Epidemiology (HuGE) Navigator: CHCHD2 (1 document)Export disorders for CHCHD2 gene to outside databases
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Publicationsfor CHCHD2 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 CHCHD2 gene, integrated from 9 sources (see all 14 ): (articles sorted by number of sources associating them with CHCHD2) Utopia : connect your pdf to the dynamic world of online information
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 DNA sequence of human chromosome 7. (PubMed id 12853948) 1 , 2 Hillier L.W.... Wilson R.K. (2003) A census of human soluble protein complexes. (PubMed id 22939629) 1 Havugimana P.C....Emili A. (2012) Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724) 1 Udeshi N.D....Carr S.A. (2012) Initial characterization of the human central proteome. (PubMed id 21269460) 2 Burkard T.R.... Colinge J. (2011) Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624) 1 Hendrickson S.L....O'Brien S.J. (2010) TLR8-dependent TNF-(alpha) overexpression in Fanconi anemia group C cells. (PubMed id 19850743) 1 Vanderwerf S.M....Bagby G.C. (2009) Identification and characterization of proteins inter acting with SIRT1 and SIRT3: implications in the anti-aging and metabolic effec ts of sirtuins. (PubMed id 19343720) 1 Law I.K....Wang Y. (2009) A computational screen for regulators of oxidative ph osphorylation implicates SLIRP in mitochondrial RNA homeostasis. (PubMed id 19680543) 1 Baughman J.M....Mootha V.K. (2009) Huntingtin interacting proteins are genetic modifiers of neurodegeneration. (PubMed id 17500595) 1 Kaltenbach L.S....Hughes R.E. (2007)
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External Searches for CHCHD2 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing CHCHD2 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 CHCHD2 gene
(According to HUGE )
About This Section --
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Specialized Databases showing CHCHD2 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 CHCHD2 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for CHCHD2 gene: Search GeneIP for patents involving CHCHD2 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor CHCHD2 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
Browse OriGene Antibodies OriGene shRNA RFP for CHCHD2 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for CHCHD2 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for CHCHD2 Browse OriGene Protein Over-expression Lysates Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for CHCHD2 OriGene 3'-UTR Clone for CHCHD2 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CHCHD2 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for CHCHD2 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 Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for CHCHD2 OriGene Custom Protein Services for CHCHD2 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CHCHD2 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing CHCHD2 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat CHCHD2 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat CHCHD2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat CHCHD2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat CHCHD2
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CHCHD2 Proteins, Antibodies, CLIAs, and ELISAs
ThermoFisher Antibody for CHCHD2
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CHCHD2
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