CCDC114 Gene
protein-coding GIFtS : 41
GCID: GC19 M048799
coiled-coil domain containing 114
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Aliasesfor CCDC114 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 114 1 2 CILD201 2 FLJ329261 Coiled-Coil Domain-Containing Protein 1142
Export aliases for CCDC114 gene to outside databases Previous GC identifers: GC19M053492 GC19M045180
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Summariesfor CCDC114 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section UniProtKB/Swiss-Prot: CC114_HUMAN, Q96M63 Function : Probable component of the outer dynein arm complex required along the entire axoneme for tethering of outerdynein arms (Probable)
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Genomic Viewsfor CCDC114 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_000019.9 NC_018930.1 NT_011109.16 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the CCDC114 gene promoter: COUP-TF1 STAT1 Bach2 RelA HNF-4alpha1 E47 AREB6 RORalpha1 HEN1 COUP-TF Other transcription factors Search SABiosciences Chromatin IP Primers for CCDC114 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat CCDC114
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 19q13.33 Ensembl cytogenetic band: 19q13.33 HGNC cytogenetic band: 19q13.32 CCDC114 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 19 GeneLoc Exon Structure
GeneLoc location for GC19M048799: view genomic region
(about GC identifiers )
Start:
48,799,709 bp from pter
End:
48,825,130 bp from pter
Size:
25,422 bases
Orientation:
minus strand
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Proteinsfor CCDC114 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: CC114_HUMAN, Q96M63 (See
protein sequence )Recommended Name: Coiled-coil domain-containing protein 114 Size : 670 amino acids; 75046 Da
Subcellular location : Cell projection, cilium
Caution : Although the CILD20 variant corresponding to dbSNP:rs147718607 could create a Ala to Thr substitution atposition 248, the variation causes an intronic insertion, resulting in a frameshift and premature truncation. It should therefore not be considered as a single amino acid polymorphism (SAP) (PubMed:23261303)
Sequence caution : Sequence=BAB71448.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites;Sequence=BAC87296.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites;
Secondary accessions : Q6ZRL4 Q96M06 Q9UFG8Alternative splicing : 3 isoforms : Q96M63-1 Q96M63-4 Q96M63-5 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for CCDC114: NX_Q96M63 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q96M63 CCDC114 Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins: NP_653178.3 ENSEMBL proteins: ENSP00000318429 Human Recombinant Protein Products for CCDC114: CCDC114 Antibody Products: Assay Products for CCDC114:
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Protein
Domains / Familiesfor CCDC114 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section ProtoNet protein and cluster: Q96M63
UniProtKB/Swiss-Prot: CC114_HUMAN, Q96M63 Similarity : Belongs to the ODA1/DCC2 family
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Functionfor CCDC114 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 Molecular Function: UniProtKB/Swiss-Prot Summary: CC114_HUMAN, Q96M63 Function : Probable component of the outer dynein arm complex required along the entire axoneme for tethering of outerdynein arms (Probable) 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 CCDC114 (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CCDC114 (see all 2 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: CCDC114 (NM_144577 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CCDC114 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CCDC114
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC114
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Pathways & Interactionsfor CCDC114 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 CCDC114
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Drugs & Compoundsfor CCDC114 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 CCDC114 Search CenterWatch for drugs/clinical trials and news about CCDC114 / CC114
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Transcriptsfor CCDC114 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 CCDC114 gene (3 alternative transcripts): NM_001135193.1 NM_001135194.1 NM_144577.3 Unigene Cluster for CCDC114:
Coiled-coil domain containing 114 Hs.112645 [show with all ESTs ] Unigene Representative Sequence: BC007730 5 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000315396 (uc002piq.2 uc002pir.2 ) ENST00000474199 (uc002pio.3 uc002pit.1 uc002piu.1 )ENST00000497273 (uc002pis.1 ) ENST00000497803 ENST00000483610 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for CCDC114 (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CCDC114 (see all 2 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: CCDC114 (NM_144577 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CCDC114 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CCDC114
Additional cDNA sequence: AK057488.1 BC007730.2
7 DOTS entries : DT.95158637 DT.101980943
DT.65284543 DT.95309182 DT.121454765 DT.40121903 DT.121454761 18 AceView cDNA sequences :
CA440066 CD243987 AK057488 AK128144 BC025752 AI669605 NM_144577 AL122083 BC031619 AI801593 BM926487 BC007730 BG772128 AK057357 BI831110 BI766244 BF686049 BF852637 GeneLoc Exon Structure 5/10 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC114 (see all 10 ) About this scheme ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ SP1 :                             -   -               -       -   SP2 :                 -             -   -               -       -   SP3 :             -     -             -   -                       SP4 :             -     -                                     SP5 :       -           -                                    
ExUns: 17 ^ 18 ^ 19 ^ 20 SP1 :         SP2 :         SP3 :         SP4 :         SP5 :        
ECgene alternative splicing isoforms for CCDC114
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Expression for CCDC114 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 CCDC114 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: -- About this image CCDC114 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table
See CCDC114 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for CCDC114 SOURCE GeneReport for Unigene cluster: Hs.112645 SABiosciences Custom PCR Arrays for CCDC114 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for CCDC114Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat CCDC114 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat CCDC114 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat CCDC114 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC114
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Orthologsfor CCDC114 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 CCDC114 gene from 4/15 species (see all 15 ) About this table
ENSEMBL Gene Tree for CCDC114 (if available)TreeFam Gene Tree for CCDC114 (if available)
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Paralogsfor CCDC114 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for CCDC114 gene CCDC63 2
CCDC114 for paralogs About GeneDecksing
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Genomic Variantsfor CCDC114 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 19 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for CCDC114 (48799709 - 48825130 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 5 variations for CCDC114 5 CNVs : 89276 47965 5106 78221 32261
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing CCDC114
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Disorders
/ Diseasesfor CCDC114 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
CCDC114 for disorders About MalaCards
CCDC114 for disorders About GeneDecksing
OMIM gene information: 615038
OMIM disorders : --UniProtKB/Swiss-Prot: CC114_HUMAN, Q96M63
Defects in CCDC114 are the cause of primary ciliary dyskinesia 20 (CILD20) [MIM:615067]. A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Unlike other forms of CILD, patients with CILD20 do not appear to be infertile 1 disease from the University of Copenhagen DISEASES database for CCDC114 :Primary ciliary dyskinesia Human Genome Epidemiology (HuGE) Navigator: CCDC114 (3 documents) Export disorders for CCDC114 gene to outside databases
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Publicationsfor CCDC114 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 CCDC114 gene integrated from 9 sources : (articles sorted by number of sources associating them with CCDC114) Utopia : connect your pdf to the dynamic world of online information
Splice-Site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. (PubMed id 23261303) 1 , 2 , 3 Onoufriadis A.... Mitchison H.M. (2013) Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. (PubMed id 23261302) 1 , 2 , 3 Knowles M.R.... Zariwala M.A. (2013) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 Ota T.... Sugano S. (2004) Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086) 1 Bailey S.D....Anand S. (2010) Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121) 1 Talmud P.J.... . (2009) The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005) 2 Bechtel S.... Schupp I. (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) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 2 Gerhard D.S....Malek J. (2004) The DNA sequence and biology of human chromosome 19. (PubMed id 15057824) 2 Grimwood J.... Lucas S.M. (2004) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 1 Strausberg R.L....Marra M.A. (2002)
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External Searches for CCDC114 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing CCDC114 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 CCDC114 gene
(According to HUGE )
About This Section --
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Specialized Databases showing CCDC114 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 CCDC114 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for CCDC114 gene: Search GeneIP for patents involving CCDC114 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor CCDC114 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 CCDC114 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for CCDC114 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for CCDC114 OriGene Protein Over-expression Lysate for CCDC114 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for CCDC114 Browse 3'-UTR reporter clones for miRNA target validation OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CCDC114 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for CCDC114 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 CCDC114 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for CCDC114 OriGene Custom Protein Services for CCDC114 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CCDC114 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing CCDC114 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat CCDC114 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat CCDC114 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat CCDC114 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat CCDC114
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CCDC114 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC114
ThermoFisher Antibodies for CCDC114
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CCDC114
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Disorders / Diseases for CCDC114
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