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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CCDC124 Gene

protein-coding   GIFtS: 40
GCID: GC19P018043

coiled-coil domain containing 124
 Explore 1 disease affiliated with
CCDC124 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CCDC124    

Aliases
for CCDC124 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Coiled-Coil Domain Containing 1241 2
Coiled-Coil Domain-Containing Protein 1242

External Ids:    HGNC: 251711   Entrez Gene: 1150982   Ensembl: ENSG000000070807   UniProtKB: Q96CT73   

Export aliases for CCDC124 gene to outside databases

Previous GC identifers: GC19P017911 GC19P017608


Summaries
for CCDC124 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
  --

Genomic Views
for CCDC124 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_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CCDC124 gene promoter:
         SEF-1 (1)   MIF-1   AP-4   YY1   Egr-4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CCDC124 promoter sequence
   Search SABiosciences Chromatin IP Primers for CCDC124

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC124


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.11   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.11

CCDC124 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC124 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P018043:  view genomic region     (about GC identifiers)

Start:
 18,043,824 bp from pter      End:
 18,054,794 bp from pter
Size:
 10,971 bases      Orientation:
 plus strand

Proteins
for CCDC124 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: CC124_HUMAN, Q96CT7 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 124  
Size: 223 amino acids; 25835 Da

Explore the universe of human proteins at neXtProt for CCDC124: NX_Q96CT7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q96CT7

    • CCDC124 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001129675.1  NP_612451.1  

    ENSEMBL proteins: 
     ENSP00000408730  

    Human Recombinant Protein Products: 
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    Novus Biologicals CCDC124 Lysates
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    Uscn Proteins for CCDC124


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    ThermoFisher Antibodies for CCDC124

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    Uscn ELISAs and CLIAs for CCDC124

    Protein Domains /
    Families
    for CCDC124 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CCDC124 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR010422 DUF1014
     IPR009071 HMG_superfamily

    Graphical View of Domain Structure for InterPro Entry Q96CT7

    ProtoNet protein and cluster: Q96CT7

    UniProtKB/Swiss-Prot: CC124_HUMAN, Q96CT7
    Similarity: Belongs to the CCDC124 family


    Function
    for CCDC124 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
    miRNA
    Products:            		 OriGene 3'-UTR Clone (see all 2): CCDC124
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CCDC124
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    SwitchGear 3'UTR luciferase reporter plasmid: CCDC124 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CCDC124 (see all 7)
    OriGene shRNA RFP: CCDC124
    OriGene siRNA: CCDC124
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    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC124 (see all 5)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC124 

    Cell Line
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    Search LifeMap BioReagents cell lines for CCDC124

    In Situ Assay
    Products:       
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for CCDC124

    1 GenomeRNAi human phenotype for CCDC124:
     Low eccentricity cells 


    Pathways & Interactions
    for CCDC124 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 CCDC124

    4 Interacting proteins for CCDC124 (Q96CT73) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EIF2AK2P195253I2D: score=1 
    MAPK3P273613I2D: score=1 
    PRKAA1Q131313I2D: score=1 
    STK11Q158313I2D: score=1 
    About this table

    Drugs & Compounds
    for CCDC124 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 Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CCDC124
    Search CenterWatch for drugs/clinical trials and news about CCDC124 / CC124 

    Transcripts
    for CCDC124 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 CCDC124 gene (2 alternative transcripts): 
    NM_001136203.1  NM_138442.3  

    Unigene Cluster for CCDC124:

    Coiled-coil domain containing 124
    Hs.100043  [show with all ESTs]
    Unigene Representative Sequence: BM554853
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000445755(uc010xpz.2 uc002nhs.3)

    miRNA
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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CCDC124 (see all 7)
    OriGene shRNA RFP: CCDC124
    OriGene siRNA: CCDC124
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCDC124
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC124 (see all 2)
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    GenScript: all cDNA clones in your preferred vector (see all 2): CCDC124 (NM_138442)
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC124

    Additional cDNA sequence: 

    AF086307.1 BC013949.2 

    4 DOTS entries:

    DT.413681  DT.121488116  DT.86847476  DT.40307570 

    24/221 AceView cDNA sequences (see all 221):

    BM915698 CF126134 BF513247 BE295726 AI374691 BQ670030 BF513196 BI837656 
    BE263563 BQ926578 AF086307 BM723679 BQ883540 BQ674818 BE646100 AW103173 
    BE408183 BQ637953 BQ684054 BM713745 BM554613 BE047676 CF128381 BF195195 

    GeneLoc Exon Structure


    Expression
    for CCDC124 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

    CCDC124 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTCTTATCAC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See CCDC124 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CCDC124

    SOURCE GeneReport for Unigene cluster: Hs.100043
        SABiosciences Custom PCR Arrays for CCDC124
    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CCDC124
    Browse OriGene validated miRNA SYBR primer pairs
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    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC124
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC124
    In Situ
    Assay Products:     
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for CCDC124

    Orthologs
    for CCDC124 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 CCDC124 gene from 8/29 species (see all 29)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Ccdc1241 , 5 coiled-coil domain containing 1241, 5 84.33(n)1
    90.32(a)1    		   8 (34.33 cM)5
    2343881  NM_026964.31  NP_081240.11 
     708682275 
    chicken
    (Gallus gallus)    		 Aves CCDC1241 coiled-coil domain containing 124 76.92(n)
    82.81(a)    		   427087  XM_424681.3  XP_424681.1 
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.35322 Xenopus laevis transcribed sequence with weak similarity to protein refNP_149129.1 (H.sapiens) caldesmon 1, isoform 1; L-CAD; H-CAD; NAG22 protein; l-caldesmon I [Homo sapiens] less 78.42(n)    CD361620.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii BC056579.12   -- 76.5(n)   393537  BC056579.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG60131 CG6013 56.09(n)
    45.19(a)    		   42286  NM_142520.3  NP_650777.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea Y73E7A.11 Protein Y73E7A.1 55.45(n)
    54.21(a)    		   171725  NM_001047247.1  NP_001040712.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT1G162101 hypothetical protein 49.69(n)
    35.51(a)    		   838189  NM_101487.4  NP_563993.1 
    rice
    (Oryza sativa)    		 Liliopsida Os04g05616001 hypothetical protein 55.92(n)
    43.6(a)    		   4336658  NM_001060088.1  NP_001053553.1 


    ENSEMBL Gene Tree for CCDC124 (if available)
    TreeFam Gene Tree for CCDC124 (if available) 

    Paralogs
    for CCDC124 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for CCDC124 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

    10/250 NCBI SNPs in CCDC124 are shown (see all 250)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs104139191,2
    		C,F,A,--18041925(+) GAACTC/ACTCAC 1 -- us2k17Minor allele frequency- A:0.40NA WA CSA EA 249
    rs1503783821,2
    		--18041966(+) GTGCTG/TGGATT 1 -- us2k10--------
    rs1851808841,2
    		--18042078(+) ATCTCA/GGCTCA 1 -- us2k10--------
    rs1899131211,2
    		--18042268(+) CCTCCC/TAAAGT 1 -- us2k10--------
    rs1929812601,2
    		--18042342(+) TTCACC/GCAGGC 1 -- us2k10--------
    rs360740061,2
    		C,F,--18042412(+) TGATTC/TTCTTG 1 -- us2k18Minor allele frequency- T:0.29NA WA EA 368
    rs560875301,2
    		C,F,--18042432(+) ATGAGC/GATGCC 1 -- us2k18Minor allele frequency- G:0.30NA WA CSA EA 367
    rs1154589831,2
    		F,--18042524(+) CAAGCG/TATCCT 1 -- us2k11Minor allele frequency- T:0.02WA 118
    rs118806851,2
    		C,F,A,H,--18042569(+) GCATGA/TGCCAC 1 -- us2k112Minor allele frequency- T:0.26NA WA CSA EA 380
    rs1380611001,2
    		--18042581(+) GCGACA/CAGCCA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CCDC124 (18043824 - 18054794 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for CCDC124
         1 Indel: 45731

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC124

    Disorders / Diseases
    for CCDC124 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
    CCDC124 for disorders           About GeneDecksing

    1 disease for CCDC124:    About MalaCards
    malaria


    Export disorders for CCDC124 gene to outside databases

    Publications
    for CCDC124 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 CCDC124 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with CCDC124)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    3. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)1 Kristensen A.R....Foster L.J. (2012)
    4. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422)1 Li S....Dorf M.E. (2011)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    8. 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)
    9. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (2004)

    External Searches for CCDC124 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CCDC124 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 115098 HGNC: 25171 AceView: LOC115098 Ensembl:ENSG00000007080 euGenes: HUgn115098
    ECgene: CCDC124 H-InvDB: CCDC124

    Other Databases showing CCDC124 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CCDC124 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
    NameDescription
    PharmGKB entry for CCDC124 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for CCDC124 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for CCDC124 gene:
    Search GeneIP for patents involving CCDC124

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for CCDC124 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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