SRL Gene
protein-coding GIFtS : 44
GCID: GC16 M004239
sarcalumenin
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Aliasesfor SRL 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 Export aliases for SRL gene to outside databases Previous GC identifers: GC16U990054 GC16M004242 GC16M004182
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Summariesfor SRL 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: SRCA_HUMAN, Q86TD4 Function : May be involved in the regulation of calcium transport
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Genomic Viewsfor SRL 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_000016.9 NC_018927.1 NT_010393.16 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the SRL gene promoter: AML1a Tal-1 p53 MyoD E47 YY1 PPAR-gamma1 c-Myb PPAR-gamma2 Other transcription factors Search SABiosciences Chromatin IP Primers for SRL Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SRL
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 16p13.3 Ensembl cytogenetic band: 16p13.3 HGNC cytogenetic band: 16p13.3 SRL Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 16 GeneLoc Exon Structure
GeneLoc location for GC16M004239: view genomic region
(about GC identifiers )
Start:
4,239,375 bp from pter
End:
4,292,081 bp from pter
Size:
52,707 bases
Orientation:
minus strand
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Proteinsfor SRL 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: SRCA_HUMAN, Q86TD4 (See
protein sequence )Recommended Name: Sarcalumenin precursor Size : 932 amino acids; 100788 Da
Subcellular location : Sarcoplasmic reticulum lumen (By similarity). Note=Associated through calcium with the membrane(By similarity)
Sequence caution : Sequence=CAD89901.1; Type=Frameshift; Positions=927;Alternative splicing : 2 isoforms : Q86TD4-1 Q86TD4-2 Explore the universe of human proteins at neXtProt for SRL: NX_Q86TD4 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q86TD4 SRL Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_001092284.1 ENSEMBL proteins: ENSP00000461179 ENSP00000382518 ENSP00000440350 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:0033018 sarcoplasmic reticulum lumen
IEA --
SRL for ontologies About GeneDecksing SRL Antibody Products: Assay Products for SRL:
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Protein
Domains / Familiesfor SRL gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
SRL for domains About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry Q86TD4 ProtoNet protein and cluster: Q86TD4
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Functionfor SRL 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: UniProtKB/Swiss-Prot: SRCA_HUMAN, Q86TD4 Function : May be involved in the regulation of calcium transport
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 SRL (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SRLOriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript Custom all cDNA clones Services for SRL Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SRL Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SRL
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRL
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view) : About this table
SRL for ontologies About GeneDecksing Animal Models: Mouse knock-out Srl tm1Hta for SRL 2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Srl) :
SRL for phenotypes About GeneDecksing
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Pathways & Interactionsfor SRL 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 SRL
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Drugs & Compoundsfor SRL 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
SRL for compounds About GeneDecksing Browse Tocris compounds for SRL 1 HMDB Compound for SRL About this table 4 Novoseek chemical compound relationships for SRL gene About this table
Search CenterWatch for drugs/clinical trials and news about SRL / SRCA
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Transcriptsfor SRL 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
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microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
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Primers from
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QIAGEN
)About This Section REFSEQ mRNAs for SRL gene: NM_001098814.1 Unigene Cluster for SRL:
Sarcalumenin Hs.10041 [show with all ESTs ] Unigene Representative Sequence: BX647476 3 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000572111 (uc002cvy.4 ) ENST00000399609 (uc002cvz.4 ) ENST00000537996 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SRL (see all 2 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SRLOriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript Custom all cDNA clones Services for SRL DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SRL Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SRL
Additional cDNA sequence: AK056588.1 AK302601.1 AL831973.2 AL832361.1 BX647476.1
5 DOTS entries : DT.209634 DT.40260918
DT.100748234 DT.120703974 DT.92416631 24/40 AceView cDNA sequences (see all 40 ):
AI685625 AA418481 F30239 F29975 BE219044 F32555 F31328 AK056588 BF055359 AI887906 F20632 AI217685 F26773 BM675369 BF842337 AA346042 AA993197 AW964205 BX647476 F20502 AL831973 AL832361 AA346041 AI341730 GeneLoc Exon Structure
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Expression for SRL 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 SRL expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TTTTCCTTTT
About this image SRL expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See SRL Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SRL SOURCE GeneReport for Unigene cluster: Hs.10041 SABiosciences Custom PCR Arrays for SRL Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for SRLBrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat SRL QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SRL QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SRL In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRL
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Orthologsfor SRL 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 SRL gene from 5/17 species (see all 17 ) About this table
Organism
Taxonomic classification
Gene
Description
Human Similarity
Orthology Type
Details
chicken (Gallus gallus)
Aves
SRL1
sarcalumenin
82.48(n) 88.3(a)
 
396269 NM_205329.1 NP_990660.1
lizard (Anolis carolinensis)
Reptilia
SRL6
--
89(a)
1 ↔ 1
GL343856.1(76973-83036)
African clawed frog (Xenopus laevis)
Amphibia
Xl.331382
Xenopus laevis transcribed sequence with weak similarity more
78.27(n)
 
CF289376.1
zebrafish (Danio rerio)
Actinopterygii
wufb80c092
wufb80c09
78.79(n)
 
323056 57043408
fruit fly (Drosophila melanogaster)
Insecta
CG92971
CG9297
56.5(n) 46.1(a)
 
41688 NM_176497.1 NP_788674.1
ENSEMBL Gene Tree for SRL (if available)TreeFam Gene Tree for SRL (if available)
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Paralogsfor SRL gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for SRL gene EHD1 2 EHD4 2 EPS15L1 2 ITSN1 2 EPS15 2 EHD3 2 ITSN2 2 EHD2 2 4 SIMAP similar genes for SRL using alignment to 4 protein entries: SRCA_HUMAN (see all proteins ):EHD3 EHD1 EHD4 EHD2
SRL for paralogs About GeneDecksing
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Genomic Variantsfor SRL 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 16 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for SRL (4239375 - 4292081 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 4 variations for SRL 4 CNVs : 3100 8810 72431 72435
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing SRL
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Disorders
/ Diseasesfor SRL 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
SRL for disorders About GeneDecksing
OMIM gene information: 604992
OMIM disorders : --8 diseases for SRL : About MalaCards malignant hyperthermia restless legs syndrome malignant hyperthermia susceptibility frey syndrome muscular dystrophy eye disease myopathy thyroiditis 1 Novoseek disease relationship for SRL gene About this table
Disease
-log (P-Val)
Hits
PubMed IDs for Articles with Shared Sentences (# sentences)
muscular dystrophies
50.8
1
14678011 (1)
Export disorders for SRL gene to outside databases
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Publicationsfor SRL 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 SRL gene, integrated from 9 sources (see all 17 ): (articles sorted by number of sources associating them with SRL) Utopia : connect your pdf to the dynamic world of online information
Molecular cloning and expression of cDNA encoding a lumenal calcium binding glycoprotein from sarcoplasmic reticulum. (PubMed id 2762314) 1 , 3 Leberer E....MacLennan D.H. (1989) 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) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 Ota T.... Sugano S. (2004) Identification of 4370 expressed sequence tags from a 3'-end-specific cDNA library of human skeletal muscle by DNA sequencing and filter hybridization. (PubMed id 8681137) 1 Lanfranchi G....Valle G. (1996) Drastic reduction of sarcalumenin in Dp427 (dystrophin of 427 kDa)-deficient fibres indicates that abnormal calcium handling plays a key role in muscular dystrophy. (PubMed id 14678011) 9 Dowling P....Ohlendieck K. (2004) Drastic reduction in the luminal Ca2+ -binding proteins calsequestrin and sarcalumenin in dystrophin-deficient cardiac muscle. (PubMed id 15276652) 9 Lohan J. and Ohlendieck K. (2004) Role of the eye muscles in thyroid eye disease: identification of the principal autoantigens. (PubMed id 9669297) 9 Gunji K....Wall J.R. (1998) The identification of the phosphorylated 150/160-kDa proteins of sarcoplasmic reticulum, their kinase and their association with the ryanodine receptor. (PubMed id 8765099) 9 Shoshan-Barmatz V....Heilmeyer L.M. (1996) Cardiac sarcalumenin: phosphorylation, comparison with the skeletal muscle sarcalumenin and modulation of ryanodine receptor. (PubMed id 10398759) 9 Hadad N....Shoshan-Barmatz V. (1999)
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External Searches for SRL gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing SRL 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 SRL gene
(According to HUGE )
About This Section --
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Specialized Databases showing SRL 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 SRL Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for SRL gene: Search GeneIP for patents involving SRL GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor SRL 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
Browse OriGene Antibodies OriGene shRNA RFP for SRL OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for SRL OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for SRL OriGene Protein Over-expression Lysate for SRL Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for SRL OriGene 3'-UTR Clone for SRL OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for SRL OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for SRL 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 Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for SRL OriGene Custom Protein Services for SRL OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SRL QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing SRL QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SRL QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat SRL QIAGEN QuantiFast Probe-based Assays in human , mouse , rat SRL QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat SRL
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SRL Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SRL
ThermoFisher Antibodies for SRL
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat SRL
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