CSHL1 Gene
protein-coding GIFtS: 49
GCID: GC17M061986
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chorionic somatomammotropin hormone-like 1 (Previous symbol: CSHP1)
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Aliases for CSHL1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Chorionic Somatomammotropin Hormone-Like 11 2 | | MGC1498681 | | CSL1 2 3 5 | | Chorionic Somatomammotropin CS-52 | | CSHP11 2 3 | | Growth Hormone Cluster2 | | CS-51 2 | | Lactogen-Like1 | | HCS-L1 | | Chorionic Somatomammotropin-Like3 |
Export aliases for CSHL1 gene to outside databasesPrevious GC identifers: GC17U990018 GC17M064413 GC17M062327 GC17M062460 GC17M059305 GC17M059340 GC17M057354 |
Summaries for CSHL1 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 CSHL1: The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an importantrole in growth control. The gene, along with four other related genes, is located at the growth hormone locus onchromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought tohave evolved by a series of gene duplications. Although the five genes share a remarkably high degree of sequenceidentity, they are expressed selectively in different tissues. This particular family member is expressed in placentalvilli, although it was originally thought to be a pseudogene. In fact, alternative splicing suggests that the majorityof the transcripts would be unable to express a secreted protein. Alternatively spliced transcript variants encodingdifferent isoforms have been identified. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: CSHL_HUMAN, Q14406Function: May be a novel gestational hormone required to compensate for absence of other members of the GH/CS clusterduring gestation
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Genomic Views for CSHL1 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_000017.10 NC_018928.1 NT_010783.15
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the CSHL1 gene promoter: AhR FOXO4 HFH-1 POU3F1 Lmo2 Hand1 E47 Arnt Other transcription factors
Search SABiosciences Chromatin IP Primers for CSHL1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CSHL1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 17q24.2 Ensembl cytogenetic band: 17q23.3 HGNC cytogenetic band: 17q22-q24CSHL1 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 17 GeneLoc Exon Structure GeneLoc location for GC17M061986: view genomic region
(about GC identifiers)
Start:
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61,986,957 bp from pter |
End:
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61,996,198 bp from pter |
Size:
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9,242 bases |
Orientation:
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minus strand |
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Proteins for CSHL1 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: CSHL_HUMAN, Q14406 (See
protein sequence)Recommended Name: Chorionic somatomammotropin hormone-like 1 precursor Size: 222 amino acids; 25391 Da
Subcellular location: Secreted
Secondary accessions: D3DU26 D3DU27 Q0VDB2Alternative splicing: 4 isoforms: Q14406-1 Q14406-2 Q14406-3 Q14406-4 Explore the universe of human proteins at neXtProt for CSHL1: NX_Q14406
CSHL1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (4 alternative transcripts):
NP_001309.3 NP_072101.1 NP_072102.1 NP_072103.1 ENSEMBL proteins: ENSP00000452900 ENSP00000259003 ENSP00000402632 ENSP00000316360 ENSP00000413501 ENSP00000309524 ENSP00000376569 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005575 | cellular_component |
ND | -- | | GO:0005576 | extracellular region |
IEA | -- |
CSHL1 for ontologies About GeneDecksing
CSHL1 Antibody Products: Assay Products for CSHL1: |
Protein
Domains / Families for CSHL1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CSHL1 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q14406ProtoNet protein and cluster: Q14406 1 Blocks protein family: IPB001400 Somatotropin hormone
UniProtKB/Swiss-Prot: CSHL_HUMAN, Q14406Similarity: Belongs to the somatotropin/prolactin family |
Function for CSHL1 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: UniProtKB/Swiss-Prot: CSHL_HUMAN, Q14406Function: May be a novel gestational hormone required to compensate for absence of other members of the GH/CS clusterduring gestation Genatlas biochemistry entry for CSHL1:chorionic somatomammotropin hormone,like-sequence 1 (see GH@)
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 CSHL1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CSHL1 (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): CSHL1 (NM_022579) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CSHL1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSHL1  |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
CSHL1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for CSHL1:
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Pathways & Interactions for CSHL1 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
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
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| 1 | Adipogenesis | | | 2 | Endochondral Ossification | |
2 BioSystems Pathways for CSHL1 
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CSHL1
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
 5 Interacting proteins for CSHL1 (Q144063 ENSP000003095244) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008150 | biological_process |
ND | -- |
CSHL1 for ontologies About GeneDecksing
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Drugs & Compounds for CSHL1 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 CSHL1 Search CenterWatch for drugs/clinical trials and news about CSHL1 / CSHL 
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Transcripts for CSHL1 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 CSHL1 gene (4 alternative transcripts): NM_001318.2 NM_022579.1 NM_022580.1 NM_022581.1 Unigene Cluster for CSHL1: Chorionic somatomammotropin hormone-like 1 Hs.655225 [show with all ESTs]Unigene Representative Sequence: BX35709210 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000561003 ENST00000259003(uc002jdc.1 uc002jdd.1) ENST00000438387 ENST00000346606(uc002jdb.1) ENST00000450719 ENST00000558099(uc002jda.1 uc002jcz.1) ENST00000560999 ENST00000558609 ENST00000309894 ENST00000392824(uc021ubn.1)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CSHL1 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CSHL1 (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): CSHL1 (NM_022579) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CSHL1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSHL1  |
Additional cDNA sequence: AK300190.1 BC029365.1 BC119747.2 24/40 DOTS entries (see all 40): DT.92429752 DT.100059063 DT.40281707 DT.100715496 DT.100651110 DT.100715552 DT.100838861 DT.92434084 DT.100767045 DT.100851351 DT.100651113 DT.100766940 DT.120952077 DT.92061817 DT.100059909 DT.100651107 DT.100715479 DT.100767349 DT.100862539 DT.100867238 DT.120952050 DT.91721869 DT.95278460 DT.100715507 24/33 AceView cDNA sequences (see all 33): NM_022579 NM_022580 CR619210 CR592898 CR613079 CR625270 CR611059 CR625153 CR607385 CR607774 CR605931 CR618037 CR616974 CR626319 CR614531 CR614856 CR609317 CR617555 CR604383 CR594420 CR624740 CR592007 NM_001318 CR622660 GeneLoc Exon Structure
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Expression for CSHL1 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
| CSHL1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: --
About this image See CSHL1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for CSHL1
SOURCE GeneReport for Unigene cluster: Hs.655225 SABiosciences Custom PCR Arrays for CSHL1
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CSHL1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat CSHL1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CSHL1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CSHL1 |
Orthologs for CSHL1 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 CSHL1 gene from 3/6 species (see all 6) About this table
ENSEMBL Gene Tree for CSHL1 (if available) TreeFam Gene Tree for CSHL1 (if available)  |
Paralogs for CSHL1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for CSHL1 gene
- GH22 PRL2 CSH22 CSH12 GH12
4 SIMAP similar genes for CSHL1 using alignment to 5 protein entries: CSHL_HUMAN (see all proteins):CSH1 CSH2 GH2 GH1
CSHL1 for paralogs About GeneDecksing
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Genomic Variants for CSHL1 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 17 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for CSHL1 (61986957 - 61996198 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for CSHL1: --  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CSHL1 |
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Disorders
/ Diseases for CSHL1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CSHL1 for disorders About GeneDecksing
OMIM gene information: 603515
OMIM disorders: --
7 diseases for CSHL1: About MalaCardsisolated growth hormone deficiency, type ia isolated growth hormone deficiency growth hormone deficiency trophoblastic neoplasm epulis choriocarcinoma diarrhea 1 disease from the University of Copenhagen DISEASES database for CSHL1:Diarrhea 1 Novoseek disease relationship for CSHL1 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| choriocarcinoma |
53.9 |
2 |
7515000 (1) |
Human Genome Epidemiology (HuGE) Navigator: CSHL1 (3 documents) Export disorders for CSHL1 gene to outside databases
|
Publications for CSHL1 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 CSHL1 gene, integrated from 9 sources (see all 23): (articles sorted by number of sources associating them with CSHL1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Complex alternative splicing partially inactivates the human chorionic somatomammotropin-like (hCS-L) gene. (PubMed id 8083227)1, 2, 3, 9 Misra-Press A.... Liebhaber S.A. (1994)
- The human growth hormone locus: nucleotide sequence, biology, and evolution. (PubMed id 2744760)1, 2 Chen E.Y....Seeburg P.H. (1989)
- Developmental control and alternative splicing of the placentally expressed transcripts from the human growth hormone gene cluster. (PubMed id 1378436)1, 9 MacLeod J.N....Cooke N.E. (1992)
- 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)
- DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (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)
- Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors. (PubMed id 12370315)1 Wu L.... Griffin J.D. (2002)
- 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)
- Hot spots for growth hormone gene deletions in homologous regions outside of Alu repeats. (PubMed id 1980158)1 Vnencak-Jones C.L. and Phillips J.A. (1990)
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External Searches for CSHL1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
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Genome Databases showing CSHL1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CSHL1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CSHL1 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 CSHL1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for CSHL1 gene: Search GeneIP for patents involving CSHL1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for CSHL1 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 CSHL1 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CSHL1 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CSHL1 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CSHL1 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CSHL1 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CSHL1 |
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 | | CSHL1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  | | | Search ThermoFisher Antibodies for CSHL1 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CSHL1 |
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