DNAL1 Gene
protein-coding GIFtS : 53
GCID: GC14 P074111
dynein, axonemal, light chain 1 (Previous name: chromosome 14 open reading frame 168 ) (Previous symbol: C14orf168 )
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Aliasesfor DNAL1 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 Dynein, Axonemal, Light Chain 1 1 2 MGC124351 C14orf1681 2 3 5 Chromosome 14 Open Reading Frame 1681 CILD161 2 Dynein Light Chain 1, Axonemal2 1700010H15RiK1
Export aliases for DNAL1 gene to outside databases Previous GC identifers: GC14P073183 GC14P054279
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Summariesfor DNAL1 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 DNAL1 : This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.(provided by RefSeq, Jan 2011) Gene Wiki entry for DNAL1
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Genomic Viewsfor DNAL1 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_000014.8 NC_018925.1 NT_026437.12 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the DNAL1 gene promoter: RFX1 Pbx1a AML1a FOXO3 CUTL1 FOXO3b FOXO4 FOXO3a Zic3 Other transcription factors Search SABiosciences Chromatin IP Primers for DNAL1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNAL1
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 14q24.3 Ensembl cytogenetic band: 14q24.3 HGNC cytogenetic band: 14q24.3 DNAL1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 14 GeneLoc Exon Structure
GeneLoc location for GC14P074111: view genomic region
(about GC identifiers )
Start:
74,111,578 bp from pter
End:
74,168,661 bp from pter
Size:
57,084 bases
Orientation:
plus strand
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Proteinsfor DNAL1 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: DNAL1_HUMAN, Q4LDG9 (See
protein sequence )Recommended Name: Dynein light chain 1, axonemal Size : 190 amino acids; 21533 Da
Subunit : Interacts with DNAH5
Sequence caution : Sequence=AAH05343.1; Type=Erroneous initiation;
Secondary accessions : B2RD38 Q5JPB7 Q9BS43Alternative splicing : 3 isoforms : Q4LDG9-1 Q4LDG9-2 Q4LDG9-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for DNAL1: NX_Q4LDG9 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q4LDG9 DNAL1 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins (2 alternative transcripts):
NP_001188295.1 NP_113615.2 ENSEMBL proteins: ENSP00000452368 ENSP00000451547 ENSP00000452037 ENSP00000310360 ENSP00000451101 ENSP00000450744 ENSP00000451834 ENSP00000453439 ENSP00000451264 ENSP00000439695 Human Recombinant Protein Products: DNAL1 Antibody Products: Assay Products for DNAL1:
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Protein
Domains / Familiesfor DNAL1 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
DNAL1 for domains About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry Q4LDG9 ProtoNet protein and cluster: Q4LDG9
UniProtKB/Swiss-Prot: DNAL1_HUMAN, Q4LDG9 Similarity : Belongs to the dynein light chain LC1-type familySimilarity : Contains 4 LRR (leucine-rich) repeatsSimilarity : Contains 1 LRRCT domain
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Functionfor DNAL1 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: Genatlas biochemistry entry for DNAL1 : dynein,axonemal,motor protein interacting with microtubules,light chain 1,inner arm,of unknown function,essential for motility of cilia and flagella,expressed in testis 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 DNAL1 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for DNAL1 (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 2 ): DNAL1 (NM_001201366 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DNAL1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat DNAL1
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAL1
2 GenomeRNAi human phenotypes for DNAL1 :
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Pathways & Interactionsfor DNAL1 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 Unified GeneCards pathways   About this table See pathways by source Super-pathway contained gene-specific pathways 1 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 2 Cytoskeleton remodeling Neurofilaments
Pathway sources See GeneCards unified pathways Show all pathways 1 EMD Millipore Pathway for DNAL1 1
Kegg Pathway (Kegg details for DNAL1) :
DNAL1 for pathways About GeneDecksing Interactions: Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DNAL1
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Drugs & Compoundsfor DNAL1 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 DNAL1 Search CenterWatch for drugs/clinical trials and news about DNAL1
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Transcriptsfor DNAL1 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 DNAL1 gene (2 alternative transcripts): NM_001201366.1 NM_031427.3 Unigene Cluster for DNAL1:
Dynein, axonemal, light chain 1 Hs.271270 [show with all ESTs ] Unigene Representative Sequence: NM_001201366 11 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000554113 ENST00000555631 ENST00000553645 ENST00000311089 (uc010aru.3 uc001xoq.4 uc010arv.3 )ENST00000555919 ENST00000554339 ENST00000554871 ENST00000559993 ENST00000554159 ENST00000555637 ENST00000540526 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for DNAL1 (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for DNAL1 (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 2 ): DNAL1 (NM_001201366 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DNAL1 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat DNAL1
Additional cDNA sequence: AF542071.1 AK315392.1 BC005343.1
12 DOTS entries : DT.116642 DT.99937365
DT.403536 DT.201645 DT.75161901 DT.120770735 DT.40207913 DT.120770727 DT.455760 DT.92418501 DT.92418502 DT.99999127 24/170 AceView cDNA sequences (see all 170 ):
AA677030 F05801 AI283479 BF475818 AA975229 BE467862 AI538696 Z45540 BF433533 AI016435 AI242197 BX112638 BE835496 CA307053 BE503267 CA943186 BU950957 CA430714 CB218818 AW080421 AI052620 AL833654 AI702957 CA390723 GeneLoc Exon Structure
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Expression for DNAL1 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 DNAL1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: ACTTTATGAC
About this image DNAL1 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 Posterior foregut-like cells (A scalable, suspensi... )Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See DNAL1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for DNAL1 SOURCE GeneReport for Unigene cluster: Hs.271270 UniProtKB/Swiss-Prot: DNAL1_HUMAN, Q4LDG9 Tissue specificity : Expressed in tissues carrying motile cilia such as testis SABiosciences Custom PCR Arrays for DNAL1 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for DNAL1Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat DNAL1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat DNAL1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat DNAL1 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAL1
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Orthologsfor DNAL1 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 DNAL1 gene from 5/23 species (see all 23 ) About this table
ENSEMBL Gene Tree for DNAL1 (if available)TreeFam Gene Tree for DNAL1 (if available)
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Paralogsfor DNAL1 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section --
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Genomic Variantsfor DNAL1 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 14 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for DNAL1 (74111578 - 74168661 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for DNAL1 1 CNV : 3942 Human Gene Mutation Database (HGMD) : DNAL1 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing DNAL1
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Disorders
/ Diseasesfor DNAL1 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
DNAL1 for disorders About GeneDecksing
OMIM gene information: 610062
OMIM disorders : --UniProtKB/Swiss-Prot: DNAL1_HUMAN, Q4LDG9
Defects in DNAL1 are the cause of primary ciliary dyskinesia type 16 (CILD16) [MIM:614017]. 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. 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 7 diseases for DNAL1 : About MalaCards ciliary dyskinesia primary ciliary dyskinesia situs inversus kartagener syndrome bronchiectasis huntington's disease malaria 1 disease from the University of Copenhagen DISEASES database for DNAL1 :Primary ciliary dyskinesia Human Genome Epidemiology (HuGE) Navigator: DNAL1 (2 documents) Export disorders for DNAL1 gene to outside databases
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Publicationsfor DNAL1 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 DNAL1 gene integrated from 9 sources : (articles sorted by number of sources associating them with DNAL1) Utopia : connect your pdf to the dynamic world of online information
Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients. (PubMed id 15845866) 1 , 2 , 3, 9 Horvath J.... Omran H. (2005) Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. (PubMed id 21496787) 1 , 2 Mazor M.... Parvari R. (2011) 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) Knockdown of MAP4 and DNAL1 produces a post-fusion an d pre-nuclear translocation impairment in HIV-1 replication. (PubMed id 22018492) 1 Gallo D.E. and Hope T.J. (2012) Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614) 1 Rose J.E....Uhl G.R. (2010) The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005) 2 Bechtel S.... Schupp I. (2007) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 2 Ota T.... Sugano S. (2004) The DNA sequence and analysis of human chromosome 14. (PubMed id 12508121) 2 Heilig R.... Weissenbach J. (2003) 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) Primary Ciliary Dyskinesia (PubMed id 20301301) 1 Zariwala M.A....Leigh M.W. (1993)
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External Searches for DNAL1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing DNAL1 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 DNAL1 gene
(According to HUGE )
About This Section --
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Specialized Databases showing DNAL1 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 DNAL1 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for DNAL1 gene: Search GeneIP for patents involving DNAL1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor DNAL1 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
OriGene Antibodies for DNAL1 OriGene shRNA RFP for DNAL1 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for DNAL1 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for DNAL1 OriGene Protein Over-expression Lysate for DNAL1 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for DNAL1 OriGene 3'-UTR Clone for DNAL1 OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for DNAL1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for DNAL1 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 DNAL1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for DNAL1 OriGene Custom Protein Services for DNAL1 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DNAL1 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing DNAL1 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNAL1 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat DNAL1 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat DNAL1 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat DNAL1
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DNAL1 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNAL1
ThermoFisher Antibodies for DNAL1
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat DNAL1
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