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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

LEP Gene

protein-coding   GIFtS: 68
GCID: GC07P127881

Leptin

(Previous names: leptin (murine obesity homolog), leptin (obesity homolog,...)
(Previous symbols: OBS, OB)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
leptin1 2     Obese Protein2 3
OB1 2 3 5     Obesity Factor2 3
OBS1 2 3     LEPD2
Leptin (Murine Obesity Homolog)1 2     Obese, Mouse, Homolog Of2
Leptin (Obesity Homolog, Mouse)1 2     

External Ids:    HGNC: 65531   Entrez Gene: 39522   Ensembl: ENSG000001746977   OMIM: 1641605   UniProtKB: P411593   

Export aliases for LEP gene to outside databases

Previous GC identifers: GC07P126358 GC07P127421 GC07P127435 GC07P127475 GC07P127668 GC07P122242


(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 LEP Gene:
This gene encodes a protein that is secreted by white adipocytes, and which plays a major role in the regulation
of body weight. This protein, which acts through the leptin receptor, functions as part of a signaling pathway
that can inhibit food intake and/or regulate energy expenditure to maintain constancy of the adipose mass. This
protein also has several endocrine functions, and is involved in the regulation of immune and inflammatory
responses, hematopoiesis, angiogenesis and wound healing. Mutations in this gene and/or its regulatory regions
cause severe obesity, and morbid obesity with hypogonadism. This gene has also been linked to type 2 diabetes
mellitus development. (provided by RefSeq, Jul 2008)

GeneCards Summary for LEP Gene: 
LEP (leptin) is a protein-coding gene. Diseases associated with LEP include morbid obesity, and leptin deficiency, and among its related super-pathways are Axon guidance and Development Leptin signaling via PI3K-dependent pathway. GO annotations related to this gene include growth factor activity and peptide hormone receptor binding.

UniProtKB/Swiss-Prot: LEP_HUMAN, P41159
Function: May function as part of a signaling pathway that acts to regulate the size of the body fat depot. An
increase in the level of LEP may act directly or indirectly on the CNS to inhibit food intake and/or regulate
energy expenditure as part of a homeostatic mechanism to maintain constancy of the adipose mass

summary for LEP Gene:
Leptin was initially thought to have a role in energy homeostasis and obesity. More recently, it has also
been implicated in the regulation of reproduction, glucose homeostasis, bone formation, wound healing and
the immune system. Leptin acts via leptin receptors, which are transmembrane catalytic receptors found on
NPY/AgRP and alpha-MSH/CART neurons in hypothalamic nuclei. Leptin receptors (Ob-Rs) are coded for by one
human gene that produces six different isoforms; Ob-Ra - Ob-Rf. Ob-Rs exist as constitutive dimers at
physiological expression levels. Only the Ob-Rb isoform can transduce intracellular signals and does so
through activation of the JAK2/STAT3, PI 3-K and MAPK signaling cascades. Activation of Ob-Rs mediates
transcriptional regulation of the hypothalamic melanocortin pathway and downregulates endocannabinoid
expression. Leptin resistance has been proposed as a pathophysiological mechanism of obesity. In obese
individuals, Ob-Ra (which is involved in active transport of leptin across the blood-brain barrier)
expression is downregulated and the individual may be unresponsive to leptin signals. Ob-R antagonists are
of great interest in the development of pharmacological treatments for obesity.

Gene Wiki entry for LEP (Leptin) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NT_007933.15  NC_018918.2  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LEP gene promoter:
         GR   C/EBPbeta   AP-1   ATF-2   GR-beta   AP-2gamma   AREB6   GR-alpha   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): LEP promoter sequence
   Search SABiosciences Chromatin IP Primers for LEP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LEP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q31.3   Ensembl cytogenetic band:  7q32.1   HGNC cytogenetic band: 7q31

LEP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LEP gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P127881:  view genomic region     (about GC identifiers)

Start:
127,881,331 bp from pter      End:
127,897,682 bp from pter
Size:
16,352 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 127,264,455-127,280,803     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: LEP_HUMAN, P41159 (See protein sequence)
Recommended Name: Leptin precursor  
Size: 167 amino acids; 18641 Da
Subunit: Interacts with SIGLEC6
Subcellular location: Secreted
1 PDB 3D structure from and Proteopedia for LEP:
1AX8 (3D)    
Secondary accessions: O15158 Q56A88

Explore the universe of human proteins at neXtProt for LEP: NX_P41159

Explore proteomics data for LEP at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P41159

  • LEP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LEP Protein Expression
    REFSEQ proteins: NP_000221.1  
    ENSEMBL proteins: 
     ENSP00000312652  
    Reactome Protein details: P41159
    Human Recombinant Protein Products for LEP: 
    EMD Millipore Purified and/or Recombinant LEP Protein
    R&D Systems Recombinant & Natural Proteins for LEP (Leptin/OB)
    Enzo Life Sciences proteins for LEP
    OriGene Purified Protein for LEP
    OriGene Protein Over-expression Lysate for LEP
    OriGene MassSpec for LEP 
    OriGene Custom Protein Services for LEP
    GenScript Purified and Recombinant Proteins for LEP
    Novus Biologicals LEP Proteins
    Novus Biologicals LEP Lysate
    Sino Biological Recombinant Protein for LEP
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for LEP
    Cloud-Clone Corp. Proteins for LEP 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space ISS--
    GO:0005737cytoplasm IEA--

    LEP for ontologies           About GeneDecksing



    LEP Antibody Products: 
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    R&D Systems Antibodies for LEP (Leptin/OB)
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    Abcam antibodies for LEP
    Cloud-Clone Corp. Antibodies for LEP 
    ThermoFisher Antibody for LEP
    LSBio Antibodies in human, mouse, rat for LEP 

    Assay Products for LEP: 
    EMD Millipore Kits and Assays for the Analysis of LEP
    OriGene Custom Assay Services for LEP
    R&D Systems ELISAs for LEP (Leptin/OB)         (see all)
    GenScript Custom Assay Services for LEP
    Enzo Life Sciences assays for LEP
    Cloud-Clone Corp. ELISAs for LEP 
    Cloud-Clone Corp. CLIAs for LEP


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR009079 4_helix_cytokine-like_core
     IPR012351 4_helix_cytokine_core
     IPR000065 Leptin

    Graphical View of Domain Structure for InterPro Entry P41159

    ProtoNet protein and cluster: P41159

    1 Blocks protein domain: IPB000065 Obesity factor (leptin) signature

    UniProtKB/Swiss-Prot: LEP_HUMAN, P41159
    Similarity: Belongs to the leptin family


    LEP for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LEP_HUMAN, P41159
    Function: May function as part of a signaling pathway that acts to regulate the size of the body fat depot. An
    increase in the level of LEP may act directly or indirectly on the CNS to inhibit food intake and/or regulate
    energy expenditure as part of a homeostatic mechanism to maintain constancy of the adipose mass

         Genatlas biochemistry entry for LEP:
    leptin,adipocyte-specific secreted protein,18.6kDa,controlling the size of adipose depot by a profound effect of
    appen appetite and energy expenditure,also involved in control of the hypothalamic-pituitary-gonadal (HPG)
    axis,also putative angiogenic factor,homolog of the murine obese gene (ob)

         Summary:
    During embryonic development, LEP as signaling molecule is secreted from the following cells: Subcutaneous White Adipocytes in Subcutaneous White Adipose, Subcutaneous White Adipocytes in Body Subcutaneous White Adipose (see all 6).

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005179hormone activity IEA--
    GO:0005515protein binding ----
    GO:0008083growth factor activity IEA--
    GO:0051428peptide hormone receptor binding IEA--
         
    LEP for ontologies           About GeneDecksing


    Phenotypes:
         15/24 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Lep) (see all 24):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     embryogenesis  endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism 
     immune system  integument  limbs/digits/tail  liver/biliary system  mortality/aging 

    LEP for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for LEP 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LEP

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LEP 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LEP 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LEP
    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate LEP (see all 24):
    hsa-miR-498 hsa-miR-29a hsa-miR-29c hsa-miR-128 hsa-miR-27b* hsa-miR-9 hsa-miR-1276 hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidLEP 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for LEP
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of LEP

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for LEP (see all 7)
    OriGene ORF clones in mouse, rat for LEP
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: LEP (NM_000230)
    Sino Biological Human cDNA Clone for LEP
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LEP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LEP
    Sirion Biotech Customized lentivirus for stable overexpression of LEP 
                         Customized lentivirus expression plasmids for stable overexpression of LEP 

    Cell Line
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    Search LifeMap BioReagents cell lines for LEP
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LEP


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for LEP About   (see all 18)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Axon guidance
    Developmental Biology0.69
    2Development Leptin signaling via PI3K-dependent pathway
    Development Leptin signaling via PI3K-dependent pathway1.00
    3Development Leptin signaling via JAK/STAT and MAPK cascades
    Development Leptin signaling via JAK/STAT and MAPK cascades1.00
    4PEDF Induced Signaling
    Cytokine-cytokine receptor interaction0.43
    5Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Non-alcoholic fatty liver disease (NAFLD)0.41

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for LEP
        Development Leptin signaling via JAK/STAT and MAPK cascades
    Selected targets of GCR-alpha
    Development Leptin signaling via PI3K-dependent pathway

    1 R&D Systems Pathway for LEP
        Adipocytokines & Insulin Signaling

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for LEP
        AMPK Enzyme Complex Pathway

    2 GeneGo (Thomson Reuters) Pathways for LEP
        Development Leptin signaling via JAK/STAT and MAPK cascades
    Development Leptin signaling via PI3K-dependent pathway

    5/6 BioSystems Pathways for LEP (see all 6)
        Adipogenesis
    AMPK signaling
    Spinal Cord Injury
    Leptin signaling pathway
    Signaling events mediated by PTP1B


    2        Reactome Pathways for LEP
        Developmental Biology
    Transcriptional Regulation of White Adipocyte Differentiation


    5         Kegg Pathways  (Kegg details for LEP):
        Cytokine-cytokine receptor interaction
    Neuroactive ligand-receptor interaction
    Jak-STAT signaling pathway
    Adipocytokine signaling pathway
    Non-alcoholic fatty liver disease (NAFLD)


    LEP for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LEP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/65 Interacting proteins for LEP (P411593 ENSP000003126524) via UniProtKB, MINT, STRING, and/or I2D (see all 65)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKAA2P546463, ENSP000003602904I2D: score=1 STRING: ENSP00000360290
    UCNP550893, ENSP000002960994I2D: score=1 STRING: ENSP00000296099
    LEPRP483573, ENSP000003303934I2D: score=2 STRING: ENSP00000330393
    A2MP010233, ENSP000003239294I2D: score=2 STRING: ENSP00000323929
    CRPP027413, ENSP000002550304I2D: score=1 STRING: ENSP00000255030
    About this table

    Gene Ontology (GO): 5/59 biological process terms (GO ID links to tree view) (see all 59):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0001542ovulation from ovarian follicle IEA--
    GO:0001666response to hypoxia IEA--
    GO:0001819positive regulation of cytokine production IEA--
    GO:0001890placenta development IDA17957153

    LEP for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    LEP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for LEP available from Tocris Bioscience    About this table
    CompoundAction CAS #
    LEP (116-130) (mouse)Synthetic leptin peptide fragment[258276-95-8]

    1 HMDB Compound for LEP    About this table
    CompoundSynonyms CAS #PubMed Ids
    Androstenedione(4)-Androsten-3,17-dione (see all 14)63-05-811824514

    10/130 Novoseek inferred chemical compound relationships for LEP gene (see all 130)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glucose 84.8 1892 10411236 (8), 10411242 (8), 17170237 (7), 15814535 (6) (see all 99)
    c-peptide 71.5 169 12752073 (4), 16365005 (4), 19475640 (4), 15196417 (4) (see all 99)
    lipid 70.7 531 16737635 (6), 15543224 (5), 11502793 (5), 19169663 (4) (see all 99)
    testosterone 70.6 677 18462615 (11), 11244464 (9), 9253326 (7), 11228760 (6) (see all 99)
    cholesterol 70.4 648 15555610 (7), 16324751 (7), 11447020 (6), 17884293 (6) (see all 99)
    estradiol 67.6 321 9768648 (9), 11791088 (6), 9482922 (5), 11599235 (4) (see all 99)
    dehydroepiandrosterone sulfate 63.4 91 10561001 (3), 12647279 (3), 11820328 (2), 17198487 (2) (see all 52)
    orlistat 61.4 19 18846024 (3), 20119816 (2), 19409578 (2), 18457636 (1) (see all 6)
    fatty acid 61 162 16822822 (4), 11342529 (3), 11404229 (3), 15919610 (3) (see all 99)
    metformin 59.5 71 15531718 (6), 11436194 (4), 15983226 (3), 11289473 (3) (see all 37)

    2 PharmGKB related drug/compound annotations for LEP gene    About this table
    Drug/compound PharmGKB Annotation
    olanzapineCA  
    risperidoneCA  

    Search CenterWatch for drugs/clinical trials and news about LEP

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for LEP gene: 
    NM_000230.2  

    Unigene Cluster for LEP:

    Leptin
    Hs.194236  [show with all ESTs]
    Unigene Representative Sequence: NM_000230
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000308868(uc003vml.2 uc003vmm.2)
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate LEP (see all 24):
    hsa-miR-498 hsa-miR-29a hsa-miR-29c hsa-miR-128 hsa-miR-27b* hsa-miR-9 hsa-miR-1276 hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidLEP 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: LEP (NM_000230)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LEP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LEP
    Sirion Biotech Customized lentivirus for stable overexpression of LEP 
                         Customized lentivirus expression plasmids for stable overexpression of LEP 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LEP
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LEP

    Additional mRNA sequence: 

    AF008123.1 AK313553.1 BC060830.1 BC069323.1 BC069452.1 BC069527.1 D49487.1 U18915.1 
    U43653.1 

    1 DOTS entry:

    DT.412760 

    24/25 AceView cDNA sequences (see all 25):

    BQ012637 U18915 U43653 BC069527 BX098617 BC069323 BU752306 NM_000230 
    BC069452 R62951 BC060830 BX479630 AF008123 AA320865 R63003 BQ019411 
    CB995210 N56684 D49487 H42529 H39701 H42528 CB265926 CB995927 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for LEP    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b
    SP1:                        
    SP2:                        


    ECgene alternative splicing isoforms for LEP

    (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

    LEP expression in normal human tissues (normalized intensities)      LEP embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGAAGGGAC
    LEP Expression
    About this image


    LEP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Adipose (Muscoskeletal System)    fully expand to see all 17 entries
             Visceral White Adipocytes Visceral White Adipose
             Body Subcutaneous White Adipose
             omental adipose tissue   
     
     Hair
             Human Hair Outer Root Sheath Cells (HHORSC)   
     
     Bone (Muscoskeletal System)
             Notch-transfected mesenchymal stromal cells (SB623)
     
     Mesenchymal Stem Cells
             Notch-transfected mesenchymal stromal cells (SB623)
     
     Dermis (Integumentary System)
             Human Hair Outer Root Sheath Cells (HHORSC)   

    See LEP Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LEP

    SOURCE GeneReport for Unigene cluster: Hs.194236
        SABiosciences Expression via Pathway-Focused PCR Arrays including LEP (see all 10): 
              Insulin Signaling Pathway in human mouse rat
              Growth Factors in human mouse rat
              Angiogenic Growth Factors in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Angiogenesis in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LEP
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LEP

    (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 human and mouse.

    Orthologs for LEP gene from 1/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lep1 , 5 leptin1, 5 82.63(n)1
    83.23(a)1
      6 (12.30 cM)5
    168461  NM_008493.31  NP_032519.11 
     290602205 


    ENSEMBL Gene Tree for LEP (if available)
    TreeFam Gene Tree for LEP (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    572/616 SNPs in LEP are shown (see all 616)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048940231,2,4
    CLeptin deficiency (LEPD)4 pathogenic1131237807(+) ACCTCC/TGGGAT 2 R W mis10--------
    rs668186461,2
    C--127267454(-) TAATC-/TG/   
      TGTGTG
    TGTGT
    1 -- int12NA 4
    rs106764011,2
    C,F--127882006(+) AATGA-/AAT   
      G
    /ATGA
    GGTGT
    1 -- int12NS 92
    rs113804671,2
    C--127884139(+) AAAAAA/-GTAAC 1 -- int1 trp31Minor allele frequency- -:0.00CSA 2
    rs674586951,2
    C--127884300(+) CACAC-/ACAC  
            
    ACACA
    1 -- int10--------
    rs1447140621,2
    C--127884300(+) CCCTG-/ACACACAC
    ACACACACAC
    ACACA
    1 -- int10--------
    rs1473316701,2
    C--127884300(+) CCCTG-/ACACAC
            
    ACACA
    1 -- int10--------
    rs1887896531,2
    --131222519(+) GAATGC/TCTATC 1 -- us2k10--------
    rs7916161,2
    C,F,A,H--131222528(+) tcctaC/Tgcaat 1 -- us2k17Minor allele frequency- T:0.06EA NS NA WA 540
    rs611535761,2
    C,F--131222529(+) CCTACG/ACAATG 1 -- us2k12Minor allele frequency- A:0.11WA 120
    rs47280961,2
    C,F,H--131222533(+) tgcaaT/Cggaga 1 -- us2k18Minor allele frequency- C:0.24EA NS NA WA 620
    rs125365351,2
    C,F,A,H--131222553(+) agataC/Tgccct 1 -- us2k14Minor allele frequency- T:0.50NA 8
    rs289543691,2
    C,F--131222629(+) CAGACC/TAGTTT 1 -- us2k15Minor allele frequency- T:0.07NS NA 218
    rs1812713861,2
    --131222644(+) CTCTCA/GAACAC 1 -- us2k10--------
    rs289543701,2
    C--131222686(+) CAATAC/TGTGCA 1 -- us2k12Minor allele frequency- T:0.01NS 94
    rs289543711,2
    C,F--131222693(+) TGCACC/TGCTGA 1 -- us2k14Minor allele frequency- T:0.06NS NA 98
    rs7916171,2
    C,F,H--131222694(+) gcaccG/Tctgaa 1 -- us2k12Minor allele frequency- T:0.00NA 4
    rs1429983151,2
    --131222748(+) TGTGAC/TCTACT 1 -- us2k10--------
    rs289543721,2
    C,F--131222766(+) TTACAC/TCCCCT 1 -- us2k12Minor allele frequency- T:0.02NS 94
    rs289543731,2
    C,F--131222805(+) TGCTGG/ATTTGA 1 -- us2k13Minor allele frequency- A:0.03NS CSA 95
    rs1910704051,2
    --131222815(+) AGGCTC/TAGGTG 1 -- us2k10--------
    rs102583001,2
    C,F--131222859(+) cccggC/Tggccc 1 -- us2k11Minor allele frequency- T:0.00NA 2
    rs362192621,2
    C--131222944(+) ACCTAC/TGTTGA 1 -- us2k10--------
    rs289543751,2
    C,F--131223014(+) GCATGA/GGCCAC 1 -- us2k14Minor allele frequency- G:0.02NS NA 98
    rs1114133951,2
    C--131223041(+) TTTGAT/-TTTTT 1 -- us2k11Minor allele frequency- -:0.00CSA 2
    rs289543761,2
    C,F--131223052(+) TTTTTT/CCAAAC 1 -- us2k1 trp35Minor allele frequency- C:0.04NS NA CSA WA 216
    rs7916181,2
    C,F,H--131223077(+) aaaccA/Gttctt 1 -- us2k16Minor allele frequency- G:0.00NS EA NA 422
    rs1919128421,2
    --131223105(+) AAACCC/TGGCAG 1 -- us2k10--------
    rs132283771,2
    C,F--131223129(+) tcaccA/Gacgtc 1 -- us2k19Minor allele frequency- G:0.31NS NA CSA WA EA 457
    rs289543771,2
    C--131223178(+) TTTTG-/TTTTTT 1 -- us2k12Minor allele frequency- T:0.01NS 94
    rs1829799541,2
    --131223183(+) GTTTTG/TTTTAT 1 -- us2k10--------
    rs289543781,2
    C,F--131223263(+) CACTTC/TCCAGG 1 -- us2k12Minor allele frequency- T:0.02NS 94
    rs1116162161,2
    C,F--131223516(+) TCTGCG/ACAGTG 1 -- us2k11Minor allele frequency- A:0.50WA 2
    rs1395761221,2
    --131223601(+) ACCTCC/GCTGGA 1 -- us2k10--------
    rs1498599301,2
    C--131223639(+) AGGGT-/AAAA  
      CAAAAC
    AAAAC
    1 -- us2k10--------
    rs1497341981,2
    --131223699(+) ACAAAC/TGATAC 1 -- us2k10--------
    rs7916191,2
    C,F,H--131223763(+) TACATC/GTGGGA 1 -- us2k17Minor allele frequency- G:0.00MN NS EA NA WA 722
    rs69767011,2
    C,F,H--131223798(+) CGTAGG/AAAATA 1 -- us2k115Minor allele frequency- A:0.08NS EA NA WA 1864
    rs1384700261,2
    C--131223826(+) CCCAC-/AAGTAT 1 -- us2k10--------
    rs289540801,2
    C,F--131223883(+) GAGAGC/TGTGCA 1 -- us2k16Minor allele frequency- T:0.05NS NA WA 336
    rs289540811,2
    C,F--131223907(+) CAGCCA/GGAGAC 1 -- us2k15Minor allele frequency- G:0.01NS NA WA 216
    rs102626001,2
    C,F,H--131223946(+) CTCCGC/TGTGCC 1 -- us2k16Minor allele frequency- T:0.00NS EA 512
    rs1456258241,2
    C--131224024(+) GCCGCA/TCCCTC 1 -- us2k10--------
    rs1148401341,2
    --131224040(+) CTGGGC/TTTCCC 1 -- us2k10--------
    rs593572451,2
    C--131224096(+) CGAAGG/CCGCGC 1 -- us2k11Minor allele frequency- C:0.50WA 2
    rs1394590161,2
    --131224136(+) CCAGCC/GCGCTC 1 -- us2k10--------
    rs1825527381,2
    --131224183(+) GCCCCG/TCGCGG 1 -- us2k10--------
    rs1877885561,2
    --131224187(+) CGCGCC/GGCTCG 1 -- us2k10--------
    rs7916201,2
    C,F,H--131224328(+) CCTGGC/AGCGCC 1 -- us2k112Minor allele frequency- A:0.06EA NS NA MN WA 894
    rs1927634131,2
    --131224357(+) CCCGCA/GAGGTG 1 -- us2k10--------
    rs1841729331,2
    --131224395(+) GCCCGG/TCACGT 1 -- us2k10--------
    rs341043841,2
    C--131224492(+) ATAAGA/TGGGGC 1 -- us2k16Minor allele frequency- T:0.01MN WA 514
    rs21672701,2
    C,F,O,H--131224534(+) CGCCAG/ACGGTT 1 -- ut51 ese331Minor allele frequency- A:0.34NA NS EA MN WA CSA 2966
    rs22788141,2
    C,F,H--131224732(+) GGAGCG/ATTGGA 1 -- int111Minor allele frequency- A:0.05EA MN NS WA 2358
    rs1439834431,2
    --131224851(+) TGCATC/TGGAAA 1 -- int10--------
    rs615202801,2
    C,F--131224894(+) TCCCAC/ACCCAG 1 -- int11Minor allele frequency- A:0.50WA 2
    rs1924609081,2
    --131224975(+) CTTGCC/TCTGCG 1 -- int10--------
    rs22788151,2
    C,F,H--131225036(+) GAGGGA/GCTGTG 1 -- int115Minor allele frequency- G:0.35EA NS NA CSA WA 2180
    rs1847159841,2
    --131225183(+) TTGCAA/GTGCAT 1 -- int10--------
    rs1485773971,2
    C--131225190(+) CATAC-/AATG  
            
    AATGA
    1 -- int10--------
    rs1890367351,2
    --131225242(+) GCCAGA/GACTGC 1 -- int10--------
    rs47314261,2
    C,F,A,H--131225255(+) AATACC/GCGCTG 1 -- int131Minor allele frequency- N:0.00NA NS EA CSA WA 3070
    rs1919984111,2
    --131225388(+) TGACTC/TCTTAA 1 -- int10--------
    rs1849001341,2
    --131225494(+) GGGGAA/GGTGGG 1 -- int10--------
    rs1894283211,2
    --131225549(+) TCTTCC/TTTTGC 1 -- int10--------
    rs1408809091,2
    C--131225661(+) TATTAA/GGATTG 1 -- int10--------
    rs1810294551,2
    C--131226068(+) GTGGAG/TGTGGC 1 -- int10--------
    rs1430881411,2
    --131226079(+) CGCCAC/TGGAAC 1 -- int10--------
    rs1471032201,2
    --131226100(+) TCCCA-/CCCCCC 1 -- int10--------
    rs289540831,2
    C,F--131226130(+) CGTGGG/AAGCCA 1 -- int12Minor allele frequency- A:0.02NS 90
    rs1894982051,2
    --131226172(+) TCCTTG/TTGTCT 1 -- int10--------
    rs1127348101,2
    F--131226234(+) TTTCCG/AGCAGT 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs289540841,2
    C,F--131226336(+) CACAGT/ATGTCT 1 -- int15Minor allele frequency- A:0.04NS NA WA 212
    rs21226271,2
    C,F,H--131226508(+) GGAATC/TTATAA 1 -- int126Minor allele frequency- T:0.06NS EA NA WA CSA 2271
    rs1160868901,2
    --131226533(+) AACATC/TTCACT 1 -- int10--------
    rs1410464161,2
    --131226561(+) AGTCTC/TCATCT 1 -- int10--------
    rs1502576211,2
    --131226605(+) GGCTGG/TGGGGT 1 -- int10--------
    rs1393413251,2
    --131226711(+) AGGCTC/GATGAA 1 -- int10--------
    rs1433522231,2
    --131226725(+) GGCCAC/TGGGCG 1 -- int10--------
    rs1818367161,2
    C--131226730(+) CGGGCA/GGGAGT 1 -- int10--------
    rs1470312871,2
    --131226758(+) AAGATA/GGAGCA 1 -- int10--------
    rs42366251,2
    C,F,A,H--131226880(+) TTTTCA/TGTCTT 1 -- int128Minor allele frequency- T:0.08NS EA NA WA CSA 2779
    rs1860910071,2
    --131226996(+) AGCCAA/GTGCAG 1 -- int10--------
    rs1905041071,2
    --131227040(+) AACAGA/GTATTT 1 -- int10--------
    rs1827924911,2
    --131227060(+) CTGCCA/GTGTTC 1 -- int10--------
    rs563944571,2
    C--131227339(+) AAAAAA/G/TTAACT 1 -- int13NA WA EA 124
    rs1866249031,2
    --131227416(+) GCCCGA/GGAAGT 1 -- int10--------
    rs119784191,2
    C,F,H--131227423(+) aagtcG/Aggggt 1 -- int16Minor allele frequency- A:0.01NS EA NA WA 530
    rs1132773321,2
    C,F--131227474(+) GACAGG/AGCAAG 1 -- int11Minor allele frequency- A:0.00CSA 1
    rs47314271,2
    C,F,A,H--131227571(+) CAGATT/CTTTCT 1 -- int128Minor allele frequency- C:0.08NS EA NA WA CSA 2569
    rs1911298781,2
    --131227668(+) TTGCAA/GATAAG 1 -- int10--------
    rs1829708511,2
    --131227687(+) ACTCAC/TGCTGG 1 -- int10--------
    rs102571751,2
    C,F,H--131227743(+) GAGCCG/AAGACT 1 -- int17Minor allele frequency- A:0.01NS EA NA 575
    rs1875868891,2
    --131227769(+) CCCACA/GGTAAG 1 -- int10--------
    rs772685341,2
    F--131227871(+) TGAGTA/GTAAGA 1 -- int11Minor allele frequency- G:0.03WA 118
    rs1926591021,2
    --131227972(+) CAGGCA/GGTGAC 1 -- int10--------
    rs1149153881,2
    F--131228005(+) GTGGGC/TTCTGG 1 -- int11Minor allele frequency- T:0.02WA 118
    rs289540861,2
    C,F,H--131228041(+) GAGGCC/TAAATG 1 -- int19Minor allele frequency- T:0.02NS NA WA 888
    rs289540871,2
    C,F,H--131228089(+) AACTGG/AACTCT 1 -- int18Minor allele frequency- A:0.01NS NA WA 788
    rs1508184551,2
    C--131228276(+) GTGTA-/TGTGTGT 1 -- int10--------
    rs1834082701,2
    C--131228363(+) AAGCCC/TGCAAA 1 -- int10--------
    rs1412561751,2
    --131228364(+) AGCCCA/GCAAAA 1 -- int10--------
    rs289540881,2
    C,F,H--131228496(+) GGGAAC/TGCCTG 1 -- int19Minor allele frequency- T:0.02NS NA WA 964
    rs1877051061,2
    --131228557(+) ATCCCC/TGGAGT 1 -- int10--------
    rs1393924721,2
    C--131228558(+) TCCCCA/GGAGTC 1 -- int10--------
    rs1922156451,2
    C--131228805(+) AGGGGA/GTCCCA 1 -- int10--------
    rs1851022451,2
    --131228898(+) TTTAAC/TTCACA 1 -- int10--------
    rs1441644461,2
    C--131228985(+) GGAGGC/TCCTCC 1 -- int10--------
    rs1899575811,2
    --131229026(+) AGGCTC/TGGTGG 1 -- int10--------
    rs1926962221,2
    --131229070(+) GAGGCA/GGGTGG 1 -- int10--------
    rs1113059161,2
    C,F--131229102(+) GACCAG/ACCTGG 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1138371811,2
    C--131229105(+) CAGCCC/TGGCCA 1 -- int10--------
    rs1806755921,2
    C--131229161(+) GTGCGG/TTGGTG 1 -- int10--------
    rs119802661,2
    C,A,H--131229190(+) tacccA/Gggagg 1 -- int10--------
    rs1407826901,2
    --131229255(+) GAGCCA/GAGGTC 1 -- int10--------
    rs1863476131,2
    --131229292(+) CAGAGC/TAAGAC 1 -- int10--------
    rs287560491,2
    C,F--131229331(+) AAAATA/TAAAAA 1 -- int13Minor allele frequency- T:0.01NA NS 94
    rs1455114471,2
    --131229395(+) GTCCCC/TAGGAT 1 -- int10--------
    rs1488615261,2
    --131229418(+) TCCATC/TTGCCT 1 -- int10--------
    rs289540891,2
    C,F,H--131229497(+) GAGGTG/AGAGGG 1 -- int16Minor allele frequency- A:0.00NS NA WA 718
    rs10313401,2
    C,F--131229511(+) GGTGCG/AGGCCC 1 -- int13Minor allele frequency- A:0.37WA 122
    rs1892024591,2
    --131229562(+) TGAGGA/TTAAGT 1 -- int10--------
    rs1821265971,2
    --131229687(+) TTATCC/TTTTTT 1 -- int10--------
    rs289540901,2
    C,F--131229721(+) GTCTTG/CCTGTG 1 -- int16Minor allele frequency- C:0.17NS NA WA 214
    rs1866763331,2
    --131229732(+) TCACAC/TAGGCT 1 -- int10--------
    rs289540911,2
    C,F--131229787(+) GGGCTC/TAGGCA 1 -- int19Minor allele frequency- T:0.41NS NA CSA WA EA 458
    rs2003324851,2
    --131229867(+) TTTTA-/TTTTTA 1 -- int10--------
    rs2019565971,2
    --131229871(+) ATTTT-/TATTTTT 1 -- int10--------
    rs719735241,2
    C--131229872(+) TTTTT-/ATTTTT 1 -- int10--------
    rs1132184071,2
    C--131229872(+) TTTTTA/TTTTTT 1 -- int10--------
    rs20607131,2
    C,F,H--131230211(+) GAGCAC/TACAGC 1 -- int117Minor allele frequency- T:0.06NS EA NA WA CSA 874
    rs1149641941,2
    F--131230233(+) CCACCA/GTCTTC 1 -- int11Minor allele frequency- G:0.01WA 118
    rs127068311,2
    C,F--131230250(+) ACCCCG/TCTCCT 1 -- int1 trp39Minor allele frequency- T:0.46NS NA EA 338
    rs1916250641,2
    --131230253(+) CCTCTC/TCTCTC 1 -- int10--------
    rs1423965241,2
    --131230264(+) CAGGAG/TCTGCT 1 -- int10--------
    rs127068321,2
    C,F,H--131230321(+) AGCTCA/GTCTTT 1 -- int128Minor allele frequency- G:0.46NA NS EA CSA WA 2914
    rs1479383671,2
    --131230389(+) GAGAGG/TTTTTG 1 -- int10--------
    rs289540921,2
    C,F,H--131230477(+) CAGCGG/AGCCCC 1 -- int16Minor allele frequency- A:0.01NS NA 598
    rs289540931,2
    C,F,H--131230503(+) CAGCCC/TTTTGT 1 -- int17Minor allele frequency- T:0.01NS NA WA 540
    rs289540941,2
    C,F,H--131230639(+) GTTTCC/AATCTC 1 -- int19Minor allele frequency- A:0.03NS NA WA 1006
    rs1829618641,2
    --131230664(+) GCCAGA/GCTGAA 1 -- int10--------
    rs289540951,2
    C,F,H--131230844(+) TCCTCC/TACCTT 1 -- int1 trp314Minor allele frequency- T:0.10NS NA WA CSA 1286
    rs1471175041,2
    --131230848(+) CCACCG/TTCACA 1 -- int10--------
    rs1855453241,2
    --131231202(+) AGGCAC/TTTCTT 1 -- int10--------
    rs1898648921,2
    --131231241(+) CAGTGA/GCTCAG 1 -- int10--------
    rs1382515281,2
    --131231256(+) AATGCA/GGTGGC 1 -- int10--------
    rs1409365241,2
    --131231259(+) GCGGTA/GGCTCA 1 -- int10--------
    rs1502047461,2
    C--131231282(+) CAACAC/TTTTGG 1 -- int10--------
    rs102437101,2
    C,H--131231432(+) aggccG/Aaggca 1 -- int16Minor allele frequency- A:0.00NA WA CSA 11
    rs1149157091,2
    C,F--131231712(+) TGCCCG/ATAATT 1 -- int11Minor allele frequency- A:0.05WA 118
    rs102443291,2
    C,F,A,H--131231871(+) TTGCAA/TTGAAG 1 -- int128Minor allele frequency- T:0.45NS EA NA WA CSA 2840
    rs1821695541,2
    --131231910(+) CTTAAA/GGGCAC 1 -- int10--------
    rs1493860461,2
    --131231990(+) ACACTA/TCCGAG 1 -- int10--------
    rs1880264451,2
    --131232061(+) CTGTGC/TTTCCA 1 -- int10--------
    rs1141220631,2
    C,F--131232071(+) ATATCT/CTTTTC 1 -- int11Minor allele frequency- C:0.04WA 118
    rs1462365041,2
    --131232094(+) GGCCCA/CCAGTG 1 -- int10--------
    rs715782541,2
    C,F--131232102(+) GTGGGC/TGATCA 1 -- int13Minor allele frequency- T:0.04NA 124
    rs1170490591,2
    C,F--131232103(+) TGGGCG/AATCAA 1 -- int11Minor allele frequency- A:0.01NA 120
    rs102774071,2
    C,F,H--131232209(+) attgtG/Agtttt 1 -- int18Minor allele frequency- A:0.12NS EA NA WA 422
    rs1924487371,2
    --131232212(+) GTGGTC/TTTTAA 1 -- int10--------
    rs1838469521,2
    --131232558(+) TCCATC/TAACCT 1 -- int10--------
    rs289540961,2
    C,F,H--131232627(+) TCCTGG/ATTCAA 1 -- int110Minor allele frequency- A:0.08NS NA WA 1102
    rs1883297171,2
    --131232628(+) CCTGGA/TTCAAG 1 -- int10--------
    rs1930253771,2
    --131232646(+) TAGAAC/TGTTGG 1 -- int10--------
    rs1380496081,2
    --131232719(+) CACACA/GACAGG 1 -- int10--------
    rs1426235511,2
    --131232745(+) ACAGGA/GCACTT 1 -- int10--------
    rs1847755281,2
    --131232746(+) CAGGAC/TACTTC 1 -- int10--------
    rs289543791,2
    C,F,H--131232775(+) CAGAAC/TTTAGT 1 -- int114Minor allele frequency- T:0.22NS NA WA 1684
    rs1868968651,2
    --131232798(+) CCTAGC/TTGGGA 1 -- int10--------
    rs77916211,2
    C,F,A,H--131232878(+) tggggA/Cagaac 1 -- int112Minor allele frequency- C:0.04NS EA NA WA 1400
    rs732266811,2
    C,F--131232897(+) AGATAT/CTGGGA 1 -- int12Minor allele frequency- C:0.02NA 122
    rs1913493291,2
    --131233113(+) TCAGCA/GGCAGC 1 -- int10--------
    rs737213261,2
    C,F--131233180(+) TATTAT/ACAGTG 1 -- int12Minor allele frequency- A:0.24WA 120
    rs1156507481,2
    C,F--131233184(+) ATCAGT/CGGTGA 1 -- int11Minor allele frequency- C:0.03WA 118
    rs1835829331,2
    --131233224(+) CTTAGA/GTATTA 1 -- int10--------
    rs117635171,2
    C,F,A,H--131233244(+) CATTAT/CTTGAG 1 -- int129Minor allele frequency- C:0.28NA NS EA WA 3070
    rs1487034041,2
    --131233259(+) ACTATC/GACCAC 1 -- int10--------
    rs77957941,2
    C,F,A,H--131233333(+) TTGCCG/AGGAGA 1 -- int118Minor allele frequency- A:0.06NS EA NA WA CSA 880
    rs1420570071,2
    --131233381(+) GCAGAC/GCCTAA 1 -- int10--------
    rs77962021,2
    C,F,H--131233398(+) CACCCG/ACCCAT 1 -- int117Minor allele frequency- A:0.10NS EA NA WA CSA 1746
    rs289540971,2
    C,F,H--131233508(+) GGAAGT/CTTTAC 1 -- int17Minor allele frequency- C:0.01NS NA WA 788
    rs1390824071,2
    --131233518(+) CTTTTC/TTAAGA 1 -- int10--------
    rs1499112341,2
    --131233560(+) ACATAC/GTACTT 1 -- int10--------
    rs1479218071,2
    --131233601(+) TACCAC/TAGCTT 1 -- int10--------
    rs289540981,2
    C,F,H--131233795(+) GTTGAC/ATCCTA 1 -- int110Minor allele frequency- A:0.07NS NA WA 1002
    rs13493981,2
    C,H--131233830(+) TCTGTA/GAAATT 1 -- int116Minor allele frequency- G:0.00NS EA NA WA CSA 780
    rs1417580011,2
    --131233842(+) AGATTA/TAAAAA 1 -- int10--------
    rs1456091861,2
    --131233941(+) CATCTA/GTGGAC 1 -- int10--------
    rs289540991,2
    C,F,H--131233960(+) TATTAC/TCTGTC 1 -- int18Minor allele frequency- T:0.05NS NA 714
    rs289541001,2
    C,F,H--131233961(+) ATTACC/TTGTCT 1 -- int19Minor allele frequency- T:0.03NS NA WA 1000
    rs744234391,2
    F--131233995(+) AACACG/AAAAAG 1 -- int11Minor allele frequency- A:0.02EA 120
    rs1477439351,2
    --131234002(+) AAAGCA/GGAGAT 1 -- int10--------
    rs289541011,2
    C,F,H--131234004(+) AGCGGA/GGATTA 1 -- int113Minor allele frequency- G:0.04NS NA WA 1620
    rs571915091,2
    C,F--131234039(+) TCATCC/TTAATA 1 -- int11Minor allele frequency- T:0.12WA 118
    rs1492287741,2
    C--131234148(+) CTCATA/GTATCT 1 -- int10--------
    rs289541021,2
    C,F,H--131234239(+) CAAGCG/ATTCTG 1 -- int19Minor allele frequency- A:0.02NS NA CSA WA 908
    rs117609561,2
    C,F,H--131234269(+) CTCCCG/ACCACC 1 -- int121Minor allele frequency- A:0.26NS EA NA WA 2434
    rs289541031,2
    C--131234276(+) CACCAT/CGTCTT 1 -- int14Minor allele frequency- C:0.01NS NA 96
    rs1432291531,2
    --131234389(+) CCCTGG/TGCCTT 1 -- int10--------
    rs774483321,2
    C--131234404(+) TAGTAG/TCTTGT 1 -- int10--------
    rs289541041,2
    C,F,H--131234533(+) ATCCTC/TGGTGC 1 -- int110Minor allele frequency- T:0.03NS NA WA 996
    rs1894455181,2
    C--131234549(+) ACTGCA/G/TTCTGA 1 -- int10--------
    rs109541731,2
    C,F,A,H--131234622(+) AGGACG/ATAAGG 1 -- int128Minor allele frequency- A:0.25NS EA NA WA 2886
    rs1404835491,2
    --131234736(+) AGCACA/GTTTCA 1 -- int10--------
    rs289541051,2
    C,F,H--131234798(+) GCCTAG/TAGATA 1 -- int110Minor allele frequency- T:0.08NS NA WA 1094
    rs1821234001,2
    --131234809(+) GATATA/GTTACA 1 -- int10--------
    rs1457074011,2
    --131234827(+) AGGTGC/GAGTAT 1 -- int10--------
    rs1379756231,2
    --131234842(+) TGGTTA/TTGTGA 1 -- int10--------
    rs1425609261,2
    --131234904(+) AAAGTA/CTGTTA 1 -- int10--------
    rs772818111,2
    F--131234919(+) TCCCTC/TGAGCA 1 -- int11Minor allele frequency- T:0.01NA 120
    rs1854515431,2
    --131234942(+) TACATC/TATCCC 1 -- int10--------
    rs1900276701,2
    C--131234994(+) GGTCTA/GCAGGA 1 -- int10--------
    rs289541061,2
    C,F--131235100(+) TGAGGG/CGATGG 1 -- int14Minor allele frequency- C:0.02NS NA WA 86
    rs1386369851,2
    --131235141(+) ATCCCC/TGTCTG 1 -- int10--------
    rs289541071,2
    C,F,H--131235202(+) TTGCAA/G/TTGTGT 1 -- int17NS NA 588
    rs414748441,2
    C--131235217(+) CCTTCT/CGTTTT 1 -- int11Minor allele frequency- C:0.02NA 48
    rs1429045321,2
    C,F--131235268(+) GGAACC/GCTGTG 2 T syn11Minor allele frequency- G:0.00NA 4552
    rs2015233051,2
    C--131235274(+) CTGTGC/TGGATT 2 C syn10--------
    rs765291821,2
    C--131235291(-) AGGGCA/CAAAGC 2 W L mis10--------
    rs1484077501,2
    C,F--131235306(+) TTTCTA/GTGTCC 2 Y C mis12Minor allele frequency- G:0.00NA EU 5875
    rs133065171,2
    C,F,H--131235328(+) ATCCAA/GAAAGT 2 Q syn17Minor allele frequency- G:0.00NS EA NA EU 6357
    rs1116505081,2
    C,F--131235360(+) CATCAG/AGACAA 2 /K /R mis11Minor allele frequency- A:0.50CSA 4
    rs1471666861,2
    C--131235413(+) TATGCA/GGGGAC 1 -- int10--------
    rs1404474731,2
    C--131235431(+) AACTGA/CAGCCA 1 -- int10--------
    rs133065181,2
    H--131235445(+) CAGCAC/TTGGCT 1 -- int14Minor allele frequency- T:0.00NS EA 420
    rs1455427271,2
    --131235508(+) GAATGC/GCAGGC 1 -- int10--------
    rs1816161361,2
    --131235591(+) GCCTGC/GTGAGA 1 -- int10--------
    rs1132009671,2
    C--131235727(+) TGGGAC/GGCCAA 1 -- int10--------
    rs1120702221,2
    C,F--131235929(+) CCACCG/ATGCTC 1 -- int11Minor allele frequency- A:0.50NA 2
    rs1459995221,2
    C--131235967(+) TCTCA-/AAAT  
            
    AAATA
    1 -- int10--------
    rs20710451,2
    C,F,H--131236162(+) AATCAT/CAGGAT 1 -- int124Minor allele frequency- C:0.39EA NS NA 4226
    rs1901785721,2
    --131236183(+) CCTCAA/CGTGCT 1 -- int10--------
    rs1399621941,2
    --131236225(+) CTCAGC/TGATTA 1 -- int10--------
    rs1146500871,2
    C--131236296(+) TTCTGC/TGCTCG 1 -- int10--------
    rs1456914001,2
    --131236298(+) CTGCGC/TTCGCC 1 -- int10--------
    rs1809689231,2
    --131236343(+) CCTACA/GACCAG 1 -- int10--------
    rs102643611,2
    C,F,H--131236385(+) GCAGGT/AACAAG 1 -- int117Minor allele frequency- A:0.06NS EA NA WA CSA 756
    rs1181432761,2
    F--131236400(+) CCAGAA/TGCATC 1 -- int11Minor allele frequency- T:0.01NA 120
    rs775153921,2
    C,F--131236421(+) CTCTAT/GCCCAT 1 -- int11Minor allele frequency- G:0.04EA 120
    rs289541081,2
    C,F--131236439(+) TGTGCT/GTGTCA 1 -- int15Minor allele frequency- G:0.04NS NA WA 216
    rs1852971411,2
    --131236463(+) AGTTCC/TAGCTG 1 -- int10--------
    rs1456637451,2
    --131236472(+) TGATCC/TCTGGC 1 -- int10--------
    rs1465745631,2
    --131236767(+) TTGTTA/GTGAGG 1 -- int10--------
    rs1924696631,2
    --131236869(+) TGGTAA/GTCTTG 1 -- int10--------
    rs1168579101,2
    C,F--131236979(+) ATAATA/TAAAAA 1 -- int11Minor allele frequency- T:0.03EA 120
    rs119736521,2
    C,F,H--131237023(+) CTGCAC/TGTGAT 1 -- int17Minor allele frequency- T:0.01NS EA NA 577
    rs289541091,2
    C,F--131237029(+) GTGATA/GGATCC 1 -- int15Minor allele frequency- G:0.05NS NA WA 216
    rs77888181,2
    C,F,A,H--131237066(+) TACACG/AATATC 1 -- int129Minor allele frequency- A:0.06NS EA NA WA CSA 2361
    rs1839103001,2
    --131237176(+) GGGGGA/GCCTCA 1 -- int10--------
    rs171519131,2
    C,F,H--131237200(+) CTTGAT/ACTCTA 1 -- int113Minor allele frequency- A:0.07NA NS EA WA CSA 780
    rs1447554111,2
    --131237249(+) GGACTC/TGGCTG 1 -- int10--------
    rs37931621,2
    C,F,H--131237250(+) GACTCG/AGCTGG 1 -- int111Minor allele frequency- A:0.08NS EA NA WA 750
    rs1888577881,2
    C--131237350(+) TGAAAA/CCATGG 1 -- int10--------
    rs69565101,2
    C,F--131237422(+) GGAGGG/AAAGGA 1 -- int1 trp39Minor allele frequency- A:0.12NS NA WA CSA EA 342
    rs1131120891,2
    F--131237430(+) GGATGG/TTGTGG 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1413148571,2
    --131237435(+) GTGTGA/GGAAAA 1 -- int10--------
    rs38289421,2
    C,F,H--131237487(+) TGGGTA/GCAGGA 1 -- int117Minor allele frequency- G:0.34EA NS NA CSA WA 2427
    rs289541101,2
    C,F--131237523(+) AGGGAG/CGGTGG 1 -- int15Minor allele frequency- C:0.03NS NA WA 216
    rs289541111,2
    C,F--131237532(+) GGAAGG/AAGGCA 1 -- int15Minor allele frequency- A:0.03NS NA 218
    rs289541121,2
    C--131237565(+) CCCACG/AGGGAA 1 -- int14Minor allele frequency- A:0.00NS NA EU 689
    rs171519141,2
    C,F,H--131237589(+) GAGAGC/TGATTC 1 -- int125Minor allele frequency- T:0.05NA NS EA WA EU 3565
    rs1389080511,2
    C,F--131237659(+) AAACAG/AAAAGT 2 /Q syn12Minor allele frequency- A:0.00NA EU 5873
    rs1996479571,2
    C--131237668(+) GTCACC/TGGTTT 2 T syn10--------
    rs1405107281,2
    C--131237698(+) CACCCC/GATCCT 2 P syn11Minor allele frequency- G:0.00NA 4552
    rs2011852321,2
    C--131237770(+) TCCAGA/GAACGT 2 R syn10--------
    rs171519191,2,4
    C,F,H--131237774(+) GAAACG/ATGATC 2 /M /V mis1 ese327Minor allele frequency- A:0.04NA NS EA WA 7022
    rs289541131,2
    C,F--131237803(+) GAGAAA/C/TCTCCG 3 K N mis1 syn1 ese35NS NA WA 4838
    rs18005641,2,4
    C--131237822(+) TTCACG/ATGCTG 2 /M /V mis13Minor allele frequency- A:0.00NA 4556
    rs2011149171,2
    --131237837(+) TCTCTA/GAGAGC 2 K E mis10--------
    rs1916668111,2
    C--131237978(+) AGCTGA/GACCTC 2 N D mis10--------
    rs2008190491,2
    C--131237986(+) CTCAGC/TCCTGG 2 S syn11Minor allele frequency- T:0.00EU 935
    rs624810731,2
    C,F--131238031(+) GACTAC/TGTTAA 1 -- ut312Minor allele frequency- T:0.00NA EU 1139
    rs289541141,2
    C,F,H--131238032(+) ACTACG/ATTAAG 1 -- ut31 ese311Minor allele frequency- A:0.04NS NA CSA WA 1234
    rs289541151,2
    C,F,H--131238148(+) CAAAGG/ACATAA 1 -- ut31 ese36Minor allele frequency- A:0.01NS NA 498
    rs1134050881,2
    C--131238202(+) GGATCT/CTATTC 1 -- ut311Minor allele frequency- C:0.00CSA 1
    rs289541161,2
    C,F--131238227(+) GTCCAC/GCCAGC 1 -- ut31 ese35Minor allele frequency- G:0.03NS NA WA 262
    rs1403830201,2
    C--131238240(+) AGAGTG/TGGCTG 1 -- ut310--------
    rs289541171,2
    C,F,H--131238285(+) ACAAGA/GGTTGT 1 -- ut317Minor allele frequency- G:0.01NS NA 656
    rs1916004471,2
    C--131238298(+) TGTCCC/TCTCTT 1 -- ut310--------
    rs289541181,2
    C,F--131238364(+) GGCAGA/G/TGGGGT 2 -- ut31 ese35NS NA 218
    rs1838013341,2
    C--131238371(+) GGGTAA/GGCAGA 1 -- ut310--------
    rs171519221,2
    C,F,H--131238398(+) AACAAG/TGTTCC 1 -- ut31 ese320Minor allele frequency- T:0.16NA NS EA WA 2054
    rs1118808661,2
    C--131238589(+) AGTTTC/ACAATC 1 -- ut311Minor allele frequency- A:0.50CSA 2
    rs1113652401,2
    C--131238683(+) TCTCCG/AGTTAG 1 -- ut311Minor allele frequency- A:0.50CSA 2
    rs1925590651,2
    C--131238755(+) TGTTGC/TCCTGA 1 -- ut310--------
    rs709408081,2
    C--131238779(+) GACCAG/CGTTAT 1 -- ut311Minor allele frequency- C:0.04NA 48
    rs1148345171,2
    C,F--131238783(+) AGGTTA/C/GTTTTA 2 -- ut311WA 118
    rs1487745221,2
    --131238793(+) AAAAAG/TATTTG 1 -- ut310--------
    rs2012799501,2
    C--131238896(+) CATTTA/G/TTGTGG 2 -- ut310--------
    rs1855700721,2
    --131238900(+) TGTGTA/GGTGGG 1 -- ut310--------
    rs415269441,2
    C--131238983(+) TTCAGA/C/GGGGGT 2 -- ut311NA 48
    rs1382890491,2
    C--131239008(+) AGGCAA/CCCCCT 1 -- ut310--------
    rs1513253841,2
    C--131239012(+) ACCCCC/GTGGAG 1 -- ut310--------
    rs37500341,2
    C,H--131239122(+) TTGGGG/ACAGTG 1 -- ut31 ese34Minor allele frequency- A:0.00NS EA 420
    rs133065161,2
    H--131239146(+) TTCTCC/TGACTG 1 -- ut31 ese34Minor allele frequency- T:0.00NS EA 412
    rs1397813251,2
    --131239185(+) TGACGA/GTCCCA 1 -- ut310--------
    rs1905251901,2
    C--131239204(+) ACTGCA/GATCTT 1 -- ut310--------
    rs69665361,2
    C,F,H--131239241(+) TCTGAA/GTGGTC 1 -- ut31 ese35Minor allele frequency- G:0.05NS EA WA 532
    rs1441950281,2
    C--131239258(+) TGATCA/GCACTC 1 -- ut310--------
    rs1465560071,2
    --131239279(+) ACATGA/GCAGTG 1 -- ut310--------
    rs289594681,2
    C,F,H--131239373(+) GGGGGT/GTTTTA 1 -- ut31 ese37Minor allele frequency- G:0.02NS NA CSA WA 620
    rs766010791,2
    C,F--131239426(+) CCTGAC/AAAGCA 1 -- ut312Minor allele frequency- A:0.04NA EA 168
    rs1817915691,2
    --131239439(+) GCTAGA/GCGAGT 1 -- ut310--------
    rs289594691,2
    C--131239526(+) TTTGGG/CGTCTG 1 -- ut313Minor allele frequency- C:0.01NS NA 96
    rs1844447621,2
    C--131239657(+) GTGCTA/GTAGGC 1 -- ut310--------
    rs1888570051,2
    C--131239676(+) CTCACC/TCAATA 1 -- ut310--------
    rs109541741,2
    C,F,A,H--131239718(+) CTTGCG/ATTCCC 1 -- ut31 ese332Minor allele frequency- A:0.05NS EA NA WA CSA 2587
    rs1812294681,2
    --131239752(+) TGTGCA/CAAGGT 1 -- ut310--------
    rs289594701,2
    C,F--131239765(+) GGTATT/ATACCA 1 -- ut31 ese35Minor allele frequency- A:0.04NS NA WA 216
    rs2000908231,2
    --131239832(+) GCTGA-/GGGGGG 1 -- ut310--------
    rs1855329501,2
    --131239833(+) GCTGAA/GGGGGG 1 -- ut310--------
    rs1450640901,2
    --131239841(+) GGGCCA/GTGCCC 1 -- ut310--------
    rs415284561,2
    C--131239962(+) AATAAG/AAAAAT 1 -- ut311Minor allele frequency- A:0.02NA 48
    rs289594711,2
    C,F,H--131240013(+) TATAGC/ACCAGG 1 -- ut31 ese39Minor allele frequency- A:0.02NS NA 1014
    rs414342481,