RALGAPA1 Gene
protein-coding GIFtS: 52
GCID: GC14M036008
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Ral GTPase activating protein, alpha subunit 1 (catalytic)(Previous names: GTPase activating RANGAP domain-like 1, GTPase activating...) (Previous symbol: GARNL1)
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Aliases for RALGAPA1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Ral GTPase Activating Protein, Alpha Subunit 1 (Catalytic)1 2 | | GAP-Related-Interacting Partner To E122 3 | | GARNL11 2 3 5 | | GTPase-Activating Rap/Ran-GAP Domain-Like 12 3 | | GRIPE1 2 3 5 | | P2401 | | KIAA08841 3 5 | | DKFZp667F0741 | | TULIP12 3 5 | | Tulip11 | | RalGAPalpha11 2 | | GAP-Related Interacting Protein To E122 | | GTPase Activating RANGAP Domain-Like 11 2 | | Ral GTPase-Activating Protein Alpha Subunit 12 | | GTPase Activating Rap/RanGAP Domain-Like 11 2 | | Ral GTPase-Activating Protein Subunit Alpha-12 | | Tuberin-Like Protein 12 3 | | |
Export aliases for RALGAPA1 gene to outside databasesPrevious GC identifers: GC14M035080 GC14M016121 |
Summaries for RALGAPA1 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: RGPA1_HUMAN, Q6GYQ0Function: Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-likesmall GTPases RALA and RALB (By similarity) Gene Wiki entry for RALGAPA1 (GARNL1)
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Genomic Views for RALGAPA1 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: Search SABiosciences Regulatory transcription factor binding sites for RALGAPA1 Other transcription factors
Search SABiosciences Chromatin IP Primers for RALGAPA1
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RALGAPA1 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 14q13.2 Ensembl cytogenetic band: 14q13.2 HGNC cytogenetic band: 14q13.2RALGAPA1 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 GC14M036008: view genomic region
(about GC identifiers)
Start:
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36,007,558 bp from pter |
End:
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36,278,510 bp from pter |
Size:
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270,953 bases |
Orientation:
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minus strand |
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Proteins for RALGAPA1 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: RGPA1_HUMAN, Q6GYQ0 (See
protein sequence)Recommended Name: Ral GTPase-activating protein subunit alpha-1 Size: 2036 amino acids; 229832 Da
Subunit: Component of the heterodimeric RalGAP1 complex with RALGAPB. Heterodimerization is required for activity.Interacts with the HLH region of TCF3/isoform E12 (By similarity)
Subcellular location: Cytoplasm (By similarity). Nucleus (By similarity). Note=Translocated to the nucleus, whenassociated with TCF3/E12 (By similarity)
Sequence caution: Sequence=BAC86772.1; Type=Erroneous initiation;
Secondary accessions: A6NMA4 C5NU19 O94960 Q6GYP9 Q6ZT23 Q86YF3 Q86YF5 Q8ND69Alternative splicing: 6 isoforms: Q6GYQ0-1 Q6GYQ0-2 Q6GYQ0-3 Q6GYQ0-4 Q6GYQ0-5 Q6GYQ0-6 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for RALGAPA1: NX_Q6GYQ0
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q6GYQ0 RALGAPA1 Protein expression data from MOPED and PaxDb: About this image 
 REFSEQ proteins (2 alternative transcripts):
NP_055805.1 NP_919277.2 ENSEMBL proteins: ENSP00000450574 ENSP00000374348 ENSP00000302647 ENSP00000451133 ENSP00000371803 ENSP00000451877 ENSP00000258840 Human Recombinant Protein Products for RALGAPA1:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
RALGAPA1 for ontologies About GeneDecksing
RALGAPA1 Antibody Products: Assay Products for RALGAPA1: |
Protein
Domains / Families for RALGAPA1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
RALGAPA1 for domains About GeneDecksing
2 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q6GYQ0ProtoNet protein and cluster: Q6GYQ0 1 Blocks protein family: IPB000331 Rap/ran-GAP
UniProtKB/Swiss-Prot: RGPA1_HUMAN, Q6GYQ0Similarity: Contains 1 Rap-GAP domain |
Function for RALGAPA1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Molecular Function: UniProtKB/Swiss-Prot Summary: RGPA1_HUMAN, Q6GYQ0Function: Catalytic subunit of the heterodimeric RalGAP1 complex which acts as a GTPase activator for the Ras-likesmall GTPases RALA and RALB (By similarity) Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
RALGAPA1 for ontologies About GeneDecksing
Phenotypes: 1 GenomeRNAi human phenotype for RALGAPA1: Animal Models:
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 RALGAPA1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RALGAPA1 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RALGAPA1 |
|
Pathways & Interactions for RALGAPA1 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 |
|---|
| 1 | Integrated Breast Cancer Pathway | |
1 BioSystems Pathway for RALGAPA1 
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RALGAPA1
STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)
 5 Interacting proteins for RALGAPA1 (Q6GYQ03 ENSP000003026474) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006355 | regulation of transcription, DNA-dependent |
IEA | -- | | GO:0032859 | activation of Ral GTPase activity |
ISS | -- | | GO:0043547 | positive regulation of GTPase activity |
IBA | -- | | GO:0051056 | regulation of small GTPase mediated signal transduction |
-- | -- |
RALGAPA1 for ontologies About GeneDecksing
|
Drugs & Compounds for RALGAPA1 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 RALGAPA1 Search CenterWatch for drugs/clinical trials and news about RALGAPA1 / RGPA1 
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Transcripts for RALGAPA1 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,
Sirion Biotech,
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 RALGAPA1 gene (2 alternative transcripts): NM_014990.1 NM_194301.2 Unigene Cluster for RALGAPA1: Ral GTPase activating protein, alpha subunit 1 (catalytic) Hs.113150 [show with all ESTs]Unigene Representative Sequence: AY59697018/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19): ENST00000554573 ENST00000389698(uc010amp.3 uc001wti.3 uc010tpv.2) ENST00000307138(uc001wtj.3) ENST00000554259 ENST00000556106 ENST00000382366 ENST00000553892 ENST00000554355 ENST00000556837 ENST00000554652(uc001wtk.1) ENST00000557638 ENST00000556839 ENST00000553917 ENST00000554704 ENST00000557069 ENST00000557104 ENST00000555828 ENST00000556192
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RALGAPA1 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RALGAPA1 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript Custom all cDNA clones Services for RALGAPA1 | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for RALGAPA1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RALGAPA1  |
Additional cDNA sequence: AB020691.1 AB511280.1 AF085938.1 AK022988.1 AK126975.1 AL050050.1 AL834362.1 AY596970.1 AY596971.1 BC016305.1 BC042013.1 BC042045.1 BC150596.1 DQ786317.1 23 DOTS entries: DT.100816161 DT.97782725 DT.445190 DT.95169518 DT.91895210 DT.100032428 DT.86837497 DT.120754087 DT.40257201 DT.95183135 DT.120754088 DT.121145677 DT.40108199 DT.438144 DT.86854919 DT.91667406 DT.91668571 DT.92429790 DT.120754073 DT.75101073 DT.95278378 DT.95363637 DT.97857780 24/145 AceView cDNA sequences (see all 145): BQ772194 BM670224 F09823 AY596971 NM_194301 NM_014990 AI052024 AW969055 NM_015639 BI792920 AI474677 CK821147 BX486305 AW275799 Z39869 AL834362 AA938311 BC042045 BU172885 CK821146 AW293383 AY596970 AA323190 AA939262 GeneLoc Exon Structure
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Expression for RALGAPA1 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
| RALGAPA1 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: GTATTTAATA
 About this image See RALGAPA1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for RALGAPA1
SOURCE GeneReport for Unigene cluster: Hs.113150
UniProtKB/Swiss-Prot: RGPA1_HUMAN, Q6GYQ0Tissue specificity: Widely expressed SABiosciences Custom PCR Arrays for RALGAPA1
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RALGAPA1 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RALGAPA1 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RALGAPA1 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RALGAPA1 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RALGAPA1 |
Orthologs for RALGAPA1 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 animals.
Orthologs for RALGAPA1 gene from 5/23 species (see all 23) About this table
ENSEMBL Gene Tree for RALGAPA1 (if available) TreeFam Gene Tree for RALGAPA1 (if available)  |
Paralogs for RALGAPA1 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for RALGAPA1 gene
- RALGAPA22 RALGAPB2 TSC22
3 SIMAP similar genes for RALGAPA1 using alignment to 4 protein entries: RGPA1_HUMAN (see all proteins):GARNL2P GARNL1 RALGAPA2
RALGAPA1 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for RALGAPA1 PGOHUM00000260533
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Genomic Variants for RALGAPA1 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 14 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for RALGAPA1 (36007558 - 36257558 bp, first 250kb of RALGAPA1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for RALGAPA1 1 CNV: 101924 Human Gene Mutation Database (HGMD): RALGAPA1
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RALGAPA1 |
|
Disorders
/ Diseases for RALGAPA1 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
|
RALGAPA1 for disorders About GeneDecksing
OMIM gene information: 608884
OMIM disorders: --
4 diseases for RALGAPA1: About MalaCardsmetastasis efficiency newcastle disease tuberous sclerosis coloboma 1 disease from the University of Copenhagen DISEASES database for RALGAPA1:Newcastle disease Human Genome Epidemiology (HuGE) Navigator: RALGAPA1 (1 document) Export disorders for RALGAPA1 gene to outside databases
|
Publications for RALGAPA1 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 RALGAPA1 gene, integrated from 9 sources (see all 25): (articles sorted by number of sources associating them with RALGAPA1) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Tuberous sclerosis tumor suppressor complex-like complexes act as GTPase-activating proteins for Ral GTPases. (PubMed id 19520869)1, 2, 3 Shirakawa R.... Horiuchi H. (2009)
- Cloning, genomic structure and expression profile of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes and its murine homolog. (PubMed id 15498464)1, 2, 9 Schwarzbraun T.... Petek E. (2004)
- 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)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2 Nagase T....Ohara O. (1998)
- System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
- Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
- The protein network surrounding the human telomere re peat binding factors TRF1, TRF2, and POT1. (PubMed id 20811636)1 Giannone R.J....Liu Y. (2010)
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External Searches for RALGAPA1 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing RALGAPA1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing RALGAPA1 gene
(According to HUGE)
About This Section
| |
Specialized Databases showing RALGAPA1 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 RALGAPA1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for RALGAPA1 gene: Search GeneIP for patents involving RALGAPA1
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for RALGAPA1 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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory) About This Section
|
 | |
 | |
 |
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 | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RALGAPA1 |
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