DNASE1L1 Gene
protein-coding GIFtS: 51
GCID: GC0XM153629
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deoxyribonuclease I-like 1 (Previous symbol: DNL1L)
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Aliases for DNASE1L1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Deoxyribonuclease I-Like 11 2 3 | | G4.82 | | DNL1L1 2 3 5 | | Deoxyribonuclease-1-Like 12 | | DNAS1L11 2 3 | | DNase I-Like, Muscle-Specific2 | | XIB1 2 3 | | EC 3.1.21.-3 | | DNASEX1 2 | | Muscle-Specific DNase I-Like3 | | DNase I-Like 12 3 | | EC 3.1.218 | | DNase X2 3 | | EC 3.1.21.18 |
Export aliases for DNASE1L1 gene to outside databasesPrevious GC identifers: GC0XM147693 GC0XM150010 GC0XM151215 GC0XM152098 GC0XM153150 GC0XM153282 GC0XM142206 |
Summaries for DNASE1L1 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 DNASE1L1: This gene encodes a member of the deoxyribonuclease family and the protein shows high sequence similarity to lysosomalDNase I. Alternate transcriptional splice variants, encoding the same protein, have been characterized. (provided byRefSeq, Jul 2008) Gene Wiki entry for DNASE1L1
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Genomic Views for DNASE1L1 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_000023.10 NC_018934.1 NT_167198.1
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the DNASE1L1 gene promoter: AP-1 ATF-2 Nkx2-5 c-Jun Other transcription factors
Search SABiosciences Chromatin IP Primers for DNASE1L1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNASE1L1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xq28 Ensembl cytogenetic band: Xq28 HGNC cytogenetic band: Xq28DNASE1L1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome X GeneLoc Exon Structure GeneLoc location for GC0XM153629: view genomic region
(about GC identifiers)
Start:
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153,629,579 bp from pter |
End:
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153,640,449 bp from pter |
Size:
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10,871 bases |
Orientation:
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minus strand |
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Proteins for DNASE1L1 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: DNSL1_HUMAN, P49184 (See
protein sequence)Recommended Name: Deoxyribonuclease-1-like 1 precursor Size: 302 amino acids; 33893 Da
Subcellular location: Endoplasmic reticulum
Secondary accessions: D3DWW7 Q5HY41Explore the universe of human proteins at neXtProt for DNASE1L1: NX_P49184
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P49184 4/7 DME Specific Peptides for DNASE1L1 (P49184) (see all 7)
DNASE1L1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (4 alternative transcripts):
NP_001009932.1 NP_001009933.1 NP_001009934.1 NP_006721.1 ENSEMBL proteins: ENSP00000014935 ENSP00000358823 ENSP00000358822 ENSP00000309168 ENSP00000395591 ENSP00000393346 ENSP00000416881 ENSP00000393000 ENSP00000410281 ENSP00000358824 ENSP00000377255 Human Recombinant Protein Products:
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:0005783 | endoplasmic reticulum |
IDA | -- |
DNASE1L1 for ontologies About GeneDecksing
DNASE1L1 Antibody Products: Assay Products for DNASE1L1: |
Protein
Domains / Families for DNASE1L1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DNASE1L1 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P49184ProtoNet protein and cluster: P49184 1 Blocks protein family: IPB008185 Deoxyribonuclease I
UniProtKB/Swiss-Prot: DNSL1_HUMAN, P49184Similarity: Belongs to the DNase I family |
Function for DNASE1L1 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
| Function Summary: Genatlas biochemistry entry for DNASE1L1:DNase I-like endonuclease X-linked,35kDa,cardiac and muscle specific Enzyme Numbers (IUBMB): EC 3.1.212 EC 3.1.21.-1 EC 3.1.21.12
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 DNASE1L1 (see all 7) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNASE1L1 (see all 4) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 4): DNASE1L1 (NM_001009933) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DNASE1L1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNASE1L1  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNASE1L1 |
Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
DNASE1L1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for DNASE1L1: Animal Models: Mouse knock-out Dnase1l1tm1Dkfz for DNASE1L1 1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Dnase1l1):
DNASE1L1 for phenotypes About GeneDecksing
|
Pathways & Interactions for DNASE1L1 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 DNASE1L1
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table
DNASE1L1 for ontologies About GeneDecksing
|
Drugs & Compounds for DNASE1L1 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 DNASE1L1 Search CenterWatch for drugs/clinical trials and news about DNASE1L1 / DNSL1 
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Transcripts for DNASE1L1 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 DNASE1L1 gene (4 alternative transcripts): NM_001009932.1 NM_001009933.1 NM_001009934.1 NM_006730.2 Unigene Cluster for DNASE1L1: Deoxyribonuclease I-like 1 Hs.401929 [show with all ESTs]Unigene Representative Sequence: NM_00673013 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000014935 ENST00000369808(uc004fkt.1) ENST00000369807 ENST00000309585 ENST00000497242 ENST00000447892 ENST00000451865 ENST00000412184 ENST00000424626 ENST00000432135 ENST00000488225 ENST00000369809(uc004fks.1 uc004fku.1 uc004fkv.1) ENST00000393638(uc004fkw.1)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DNASE1L1 (see all 7) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DNASE1L1 (see all 4) OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 4): DNASE1L1 (NM_001009933) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DNASE1L1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNASE1L1  |
Additional cDNA sequence: BC001561.1 BC028092.1 BT019990.1 L40823.1 U06846.1 X90392.1 X90393.1 15 DOTS entries: DT.75146295 DT.92071261 DT.100781541 DT.215496 DT.101977215 DT.95177353 DT.100781536 DT.100781539 DT.121293791 DT.121294335 DT.97870113 DT.121294193 DT.217832 DT.87016116 DT.95314568 24/164 AceView cDNA sequences (see all 164): AA317506 BU075643 BU153110 BU075839 BF589060 F18999 X90393 CA424854 BM716750 BM875290 AL079680 AI718712 BU956786 BI518523 AI360984 BX398197 BX362785 BU186757 CA437988 F35752 CR621453 BE675489 NM_006730 L40823 GeneLoc Exon Structure
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Expression for DNASE1L1 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
| DNASE1L1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: --
About this image See DNASE1L1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for DNASE1L1
SOURCE GeneReport for Unigene cluster: Hs.401929 UniProtKB/Swiss-Prot: DNSL1_HUMAN, P49184Tissue specificity: Highest levels in skeletal and cardiac muscles. Detectable in all other tissues tested except brain SABiosciences Custom PCR Arrays for DNASE1L1
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DNASE1L1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DNASE1L1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNASE1L1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNASE1L1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNASE1L1 |
Orthologs for DNASE1L1 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 DNASE1L1 gene from 2/15 species (see all 15) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
lizard (Anolis carolinensis) |
Reptilia |
DNASE1L16 |
-- |
45(a) |
1 ↔ 1 |
2(86430522-86454523) |
zebrafish (Danio rerio) |
Actinopterygii |
dnase1l36 |
deoxyribonuclease I-like 3 |
39(a) |
1 ↔ 1 |
23(19990137-20000538) |
ENSEMBL Gene Tree for DNASE1L1 (if available) TreeFam Gene Tree for DNASE1L1 (if available)  |
Paralogs for DNASE1L1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for DNASE1L1 gene
- DNASE1L32 DNASE1L22 DNASE12
3 SIMAP similar genes for DNASE1L1 using alignment to 6 protein entries: DNSL1_HUMAN (see all proteins):DNASE1L3 DNASE1 DNASE1L2
DNASE1L1 for paralogs About GeneDecksing
|
Genomic Variants for DNASE1L1 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 X pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for DNASE1L1 (153629579 - 153640449 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for DNASE1L1 1 Inversion: 37365 Locus Specific Mutation Databases (LSDB): DNASE1L1
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DNASE1L1 |
|
Disorders
/ Diseases for DNASE1L1 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
|
DNASE1L1 for disorders About GeneDecksing
OMIM gene information: 300081
OMIM disorders: --
7 diseases for DNASE1L1: About MalaCardsglycogen storage disease glycogen storage disease ii keratomalacia night blindness xerophthalmia barth syndrome blindness 4 diseases from the University of Copenhagen DISEASES database for DNASE1L1:Xerophthalmia Keratomalacia Glycogen storage disease II Barth syndrome Human Genome Epidemiology (HuGE) Navigator: DNASE1L1 (4 documents) Export disorders for DNASE1L1 gene to outside databases
|
Publications for DNASE1L1 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 DNASE1L1 gene, integrated from 9 sources (see all 25): (articles sorted by number of sources associating them with DNASE1L1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- A muscle-specific DNase I-like gene in human Xq28. (PubMed id 8541839)1, 2, 3, 9 Parrish J.E....Nelson D.L. (1995)
- Cloning of a gene encoding a DNase I-like endonuclease in the human Xq28 region. (PubMed id 8654957)1, 2, 3 Pergolizzi R....Biunno I. (1996)
- Physical and biochemical properties of mammalian DNase X proteins: non-AUG translation initiation of porcine and bovine mRNAs for DNase X. (PubMed id 16107205)1, 2, 9 Shiokawa D.... Tanuma S. (2005)
- Isolation, differential splicing and protein expression of a DNase on the human X chromosome. (PubMed id 17180083)1, 2, 9 Coy J.F.... Zentgraf H. (1996)
- The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
- 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)
- Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci. (PubMed id 8733135)1, 2 Chen E.Y....D'Urso M. (1996)
- Molecular characterization of a novel endonuclease (Xib) and possible involvement in lysosomal glycogen storage disorders. (PubMed id 10409440)1, 9 Malferrari G....Biunno I. (1999)
- Global analysis of single nucleotide polymorphisms in the exons of human deoxyribonuclease I-like 1 and 2 genes. (PubMed id 20967767)1 Fujihara J....Takeshita H. (2010)
- Genetic and expression analysis of all non-synonymous single nucleotide polymorphisms in the human deoxyribonuclease I-like 1 and 2 genes. (PubMed id 20503202)1 Ueki M....Yasuda T. (2010)
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External Searches for DNASE1L1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
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Genome Databases showing DNASE1L1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DNASE1L1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DNASE1L1 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 DNASE1L1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DNASE1L1 gene: Search GeneIP for patents involving DNASE1L1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for DNASE1L1 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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| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DNASE1L1 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DNASE1L1 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DNASE1L1 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DNASE1L1 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DNASE1L1 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DNASE1L1 |
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 | | DNASE1L1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DNASE1L1 |
|  |  |  | | | Search ThermoFisher Antibodies for DNASE1L1 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DNASE1L1 |
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