SPTSSA Gene
protein-coding GIFtS: 40
GCID: GC14M034902
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serine palmitoyltransferase, small subunit A(Previous name: chromosome 14 open reading frame 147 ) (Previous symbol: C14orf147)
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Aliases for SPTSSA gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Serine Palmitoyltransferase, Small Subunit A1 2 | | Small Subunit Of Serine Palmitoyltransferase A2 3 | | C14orf1471 2 3 5 | | Chromosome 14 Open Reading Frame 1471 | | SSSPTA2 3 5 | | Serine Palmitoyltransferase Small Subunit A2 | | SsSPTa1 | | |
Export aliases for SPTSSA gene to outside databases |
Summaries for SPTSSA 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 SPTSSA: Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipidbiosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPTcatalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009(PubMed 19416851)).(supplied by OMIM, Nov 2010) UniProtKB/Swiss-Prot: SPTSA_HUMAN, Q969W0Function: Stimulates the activity of serine palmitoyltransferase (SPT). The composition of the serinepalmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows astrong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA assubstrates, with a slight preference for C14-CoA
|
Genomic Views for SPTSSA 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 SPTSSA Other transcription factors
Search SABiosciences Chromatin IP Primers for SPTSSA
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPTSSA |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 14q13.1 Ensembl cytogenetic band: 14q13.1 HGNC cytogenetic band: 14q13.1SPTSSA 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 GC14M034902: view genomic region
(about GC identifiers)
Start:
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34,901,995 bp from pter |
End:
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34,931,562 bp from pter |
Size:
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29,568 bases |
Orientation:
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minus strand |
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Proteins for SPTSSA 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: SPTSA_HUMAN, Q969W0 (See
protein sequence)Recommended Name: Serine palmitoyltransferase small subunit A Size: 71 amino acids; 8466 Da
Subunit: Interacts with SPTLC1; the interaction is direct. Component of the serine palmitoyltransferase (SPT) complex,composed of SPTLC1, either SPTLC2 or SPTLC3, and either SPTSSA or SPTSSB
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (Potential)
Caution: It is uncertain whether Met-1 or Met-4 is the initiator
Sequence caution: Sequence=AAH16805.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=AAH16808.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH21701.1;Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH68480.1; Type=Erroneous initiation;Note=Translation N-terminally extended; Sequence=BAG37801.1; Type=Erroneous initiation; Note=Translation N-terminallyextended;
Secondary accessions: B2RD54 D3DS93 Q8WTZ7Explore the universe of human proteins at neXtProt for SPTSSA: NX_Q969W0
SPTSSA Protein expression data from MOPED and PaxDb: About this image 

REFSEQ proteins: NP_612145.2 ENSEMBL proteins: ENSP00000298130 Human Recombinant Protein Products for SPTSSA:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
SPTSSA for ontologies About GeneDecksing
SPTSSA Antibody Products: Assay Products for SPTSSA: |
Protein
Domains / Families for SPTSSA gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
SPTSSA for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry Q969W0ProtoNet protein and cluster: Q969W0 UniProtKB/Swiss-Prot: SPTSA_HUMAN, Q969W0Similarity: Belongs to the SPTSS family. SPTSSA subfamily |
Function for SPTSSA 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: SPTSA_HUMAN, Q969W0Function: Stimulates the activity of serine palmitoyltransferase (SPT). The composition of the serinepalmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows astrong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA assubstrates, with a slight preference for C14-CoA Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
SPTSSA for ontologies About GeneDecksing
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 SPTSSA (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPTSSA (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript Custom all cDNA clones Services for SPTSSA | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SPTSSA | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPTSSA  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTSSA |
|
Pathways & Interactions for SPTSSA 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
|
UniProtKB/Swiss-Prot: SPTSA_HUMAN, Q969W0Pathway: Lipid metabolism; sphingolipid metabolismInteractions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SPTSSA
STRING Interaction
Network Preview (showing 5 interactants - click image to see 7)
 5/11 Interacting proteins for SPTSSA (Q969W02, 3 ENSP000002981304) via UniProtKB, MINT, STRING, and/or I2D (see all 11) About 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:0030148 | sphingolipid biosynthetic process |
TAS | 19416851 |
SPTSSA for ontologies About GeneDecksing
|
Drugs & Compounds for SPTSSA 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 SPTSSA Search CenterWatch for drugs/clinical trials and news about SPTSSA / SPTSA 
|
Transcripts for SPTSSA 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 SPTSSA gene: NM_138288.3 Unigene Cluster for SPTSSA: Serine palmitoyltransferase, small subunit A Hs.740577 [show with all ESTs]Unigene Representative Sequence: BC0684801 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000298130(uc001wsc.3)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPTSSA (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPTSSA (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript Custom all cDNA clones Services for SPTSSA | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SPTSSA | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPTSSA  |
Additional cDNA sequence: AK001993.1 AK315409.1 AL080066.1 BC016805.1 BC016808.1 BC021701.1 BC068480.1 7 DOTS entries: DT.448692 DT.95159464 DT.95183621 DT.91774571 DT.120782648 DT.95183615 DT.91756209 24/299 AceView cDNA sequences (see all 299): H90954 AI339558 AW629678 CK818748 AI589705 BC068480 AV682125 BI917628 AA365350 BM773469 NM_138288 AW612857 BE042393 AW079261 AI336532 CA389318 CD515459 BI821640 BM126944 CA454682 BX379451 AA838745 AW071172 AI093156 GeneLoc Exon Structure
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Expression for SPTSSA 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
| SPTSSA expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TGTTGTGTTC
 About this image See SPTSSA Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for SPTSSA
SOURCE GeneReport for Unigene cluster: Hs.740577 SABiosciences Custom PCR Arrays for SPTSSA
Primer Products: |  | Browse OriGene genome-wide validated SYBR primer pairs Browse OriGene validated miRNA SYBR primer pairs
| |  | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat SPTSSA | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SPTSSA | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SPTSSA | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTSSA |
Orthologs for SPTSSA 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 SPTSSA gene from 5/12 species (see all 12) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
mouse (Mus musculus) |
Mammalia |
Sptssa1 , 5 |
RIKEN cDNA 1110002B05 gene5 serine palmitoyltransferase, small subunit A1 |
91.08(n)1 98.59(a)1 |
  |
12 (23.46 cM)5 1047251 NM_134054.21 NP_598815.21 546453745 |
chicken (Gallus gallus) |
Aves |
SPTSSA1 |
serine palmitoyltransferase, small subunit A |
87.75(n) 95.59(a) |
  |
423318 XM_421234.3 XP_421234.2 |
lizard (Anolis carolinensis) |
Reptilia |
SPTSSA6 |
-- |
94(a) |
1 ↔ 1 |
2(54806545-54810295) |
African clawed frog (Xenopus laevis) |
Amphibia |
BQ385602.12 |
-- |
83.87(n) |
  |
BQ385602.1 |
zebrafish (Danio rerio) |
Actinopterygii |
wufb60h112 |
wufb60h11 |
74.68(n) |
  |
322432 BM776360.1 |
ENSEMBL Gene Tree for SPTSSA (if available) TreeFam Gene Tree for SPTSSA (if available)  |
Paralogs for SPTSSA gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for SPTSSA gene
- SPTSSB2
1 SIMAP similar gene for SPTSSA using alignment to 1 protein entry: SPTSA_HUMAN:SPTSSB
SPTSSA for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for SPTSSA PGOHUM00000244865
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Genomic Variants for SPTSSA 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 |
|---|
HapMap Linkage Disequilibrium report for SPTSSA (34901995 - 34931562 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for SPTSSA: --  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SPTSSA |
|
Disorders
/ Diseases for SPTSSA 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
|
SPTSSA for disorders About MalaCards
SPTSSA for disorders About GeneDecksing
OMIM gene information: 613540
OMIM disorders: --
Export disorders for SPTSSA gene to outside databases
|
Publications for SPTSSA 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 SPTSSA gene integrated from 9 sources: (articles sorted by number of sources associating them with SPTSSA) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities. (PubMed id 19416851)1, 2, 3 Han G.... Dunn T.M. (2009)
- 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)
- Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
- A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
- 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)
|
External Searches for SPTSSA gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SPTSSA gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SPTSSA gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SPTSSA 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 SPTSSA | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for SPTSSA gene: Search GeneIP for patents involving SPTSSA
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for SPTSSA 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
|
 | |
 | |
 |
| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for SPTSSA | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SPTSSA | | Browse OriGene genome-wide validated SYBR primer pairs | | OriGene Protein Over-expression Lysate for SPTSSA | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for SPTSSA | | OriGene 3'-UTR Clone for SPTSSA | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SPTSSA | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SPTSSA | | 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,
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 |  |  |  | |
| | | Search Tocris compounds for SPTSSA |
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 | | SPTSSA Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTSSA |
|  |  |  |  | | | Search ThermoFisher Antibodies for SPTSSA |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPTSSA |
| |  | |
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