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LEP Gene

protein-coding   GIFtS: 66
GCID: GC07P127881

Leptin

(Previous names: leptin (murine obesity homolog), leptin (obesity homolog,...)
(Previous symbols: OBS, OB)
  See LEP-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)
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Aliases
leptin1 2     Obese Protein2 3
OB1 2 3 5     Obesity Factor2 3
OBS1 2 3     LEPD2 5
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 leptin deficiency, and diencephalic syndrome. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000007.13  NT_007933.16  NC_018918.2  
Regulatory elements:
   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 Chromatin IP Primers for LEP

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: LEP_HUMAN, P41159 (See protein sequence)
Recommended Name: Leptin precursor  
Size: 167 amino acids; 18641 Da
Subunit: Interacts with SIGLEC6
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


See LEP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_000221.1  
ENSEMBL proteins: 
 ENSP00000312652  
Reactome Protein details: P41159

LEP Human Recombinant Protein Products:

EMD Millipore Purified and/or Recombinant LEP Protein
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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

 
Search eBioscience for Proteins for LEP 

 
antibodies-online proteins for LEP (270 products) 

 
antibodies-online peptides for LEP

LEP Antibody Products:

EMD Millipore Mono- and Polyclonal Antibodies for the study of LEP
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
antibodies-online antibodies for LEP (293 products) 

LEP Assay Products:

EMD Millipore Kits and Assays for the Analysis of LEP
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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
eBioscience ELISAs for LEP:  
                    Human Leptin Instant ELISA 128 tests
antibodies-online kits for LEP (95 products) 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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


Find genes that share domains with LEP           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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:
            fully expand
Adipose: Subcutaneous White Adipocytes (Facial Subcutaneous White Adipose), Subcutaneous White Adipocytes (Body Subcutaneous White Adipose)      fully expand to see all 6 cells

     Gene Ontology (GO): 4 molecular function terms:    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--
     
Find genes that share ontologies with LEP           About GenesLikeMe


Phenotypes:
     Selected 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/body  hematopoietic system  homeostasis/metabolism 
 immune system  integument  limbs/digits/tail  liver/biliary system  mortality/aging 

Find genes that share phenotypes with LEP           About GenesLikeMe

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for LEP

miRNA
Products:
    
Block miRNA regulation of human, mouse, rat LEP using miScript Target Protectors
Selected qRT-PCR 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:
    
OriGene RNAi products in human, mouse, rat for LEP
Predesigned siRNA for gene silencing in human, mouse, rat LEP

Gene Editing
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DNA2.0 Custom Protein Engineering Service for LEP

Clone
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OriGene clones in human, mouse for LEP (see all 6)
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

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for LEP
Browse ESI BIO Cell Lines and PureStem Progenitors for LEP 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LEP


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
LEP_HUMAN, P41159: Secreted
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
nucleus3
peroxisome3
cytoskeleton2
endoplasmic reticulum2
mitochondrion2
plasma membrane2
cytosol1
golgi apparatus1

Gene Ontology (GO): 3 cellular component terms:    About this table

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

Find genes that share ontologies with LEP           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for LEP About   (see all 23)  
See pathways by source

SuperPathContained pathways About
1Incretin Synthesis, Secretion, and Inactivation
Incretin Synthesis, Secretion, and Inactivation0.88
Synthesis, Secretion, and Inactivation of Glucagon-like Peptide-1 (GLP-1)0.88
2Peptide hormone metabolism
Peptide hormone metabolism0.30
Synthesis, Secretion, and Deacylation of Ghrelin0.00
3L1CAM interactions
Developmental Biology0.63
4Signaling by GPCR
Signal Transduction0.58
5PEDF Induced Signaling
Cytokine-cytokine receptor interaction0.43


Find genes that share SuperPaths with LEP           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

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

1 Downloadable PowerPoint Slide of GeneGlobe 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

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


4 Reactome Pathways for LEP
    Synthesis, secretion, and deacylation of Ghrelin
Transcriptional regulation of white adipocyte differentiation
Signaling by Leptin
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)


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)

    Pathway & Disease-focused RT2 Profiler 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

Interactions:

    GeneGlobe Interaction Network for LEP

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

Selected 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
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Gene Ontology (GO): Selected biological process terms (see all 60):    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

Find genes that share ontologies with LEP           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

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

Selected 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  



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(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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)
miRNA
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Block miRNA regulation of human, mouse, rat LEP using miScript Target Protectors
Selected qRT-PCR 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:
     
OriGene RNAi products in human, mouse, rat for LEP
Predesigned siRNA for gene silencing in human, mouse, rat LEP
Clone
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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)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for LEP
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LEP
Primer
Products:
    
OriGene qPCR primer pairs and template standards for LEP
OriGene qSTAR qPCR primer pairs in human, mouse for LEP
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LEP
  QuantiTect SYBR Green Assays in human, mouse, rat LEP
  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 

Selected AceView cDNA sequences (see all 25):

BQ012637 U18915 BU752306 BC069323 BC060830 R62951 BC069452 AF008123 
BC069527 NM_000230 U43653 BX479630 BX098617 AA320865 BQ019411 CB995210 
R63003 N56684 D49487 H39701 H42529 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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LEP expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 5) fully expand
 
 Adipose (Muscoskeletal System)    fully expand to see all 11 entries
         Subcutaneous White Adipocytes Cranial Subcutaneous White Adipose
         Body Subcutaneous White Adipose
 
 Umbilical Cord (Extraembryonic Tissues)
         Umbilical Arteries
 
 Bone (Muscoskeletal System)
         Notch-transfected mesenchymal stromal cells (SB623)
 
 Mesenchymal Stem Cells
         Notch-transfected mesenchymal stromal cells (SB623)
 
 Placenta (Extraembryonic Tissues)
LEP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

LEP Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.194236
    Pathway & Disease-focused RT2 Profiler 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
Products:
OriGene qPCR primer pairs and template standards for LEP
OriGene qSTAR qPCR primer pairs in human, mouse for LEP
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat LEP
QuantiTect SYBR Green Assays in human, mouse, rat LEP
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)
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This gene was present in the common ancestor of chordates.

Orthologs for LEP gene from Selected species (see all 9)    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 
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004867151 leptin-like 49.9(n)
36.2(a)
  100486715  XM_002931835.2  XP_002931881.2 
zebrafish
(Danio rerio)
Actinopterygii lepa6
leptin a
22(a)
1 ↔ 1
18(10137808-10138401) ENSDARG00000091085


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)
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  --

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for LEP (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
rs414342481,2
C,F--131240044(+) TACGTG/AAGCCA 1 -- ut312Minor allele frequency- A:0.03NA 168
rs176177571,2
C--131240051(+) GCCAGG/ATAATG 1 -- ut31 ese33Minor allele frequency- A:0.01NA 142
rs1872357171,2
C--131240108(+) TTCGAG/TGTAGA 1 -- ut310--------
rs414576461,2
C--131240203(+) AAAGTG/ATGAGC 1 -- ut315Minor allele frequency- A:0.13NA EA 338
rs289594721,2
C,F,H--131240222(+) ACAGCG/AAGAGG 1 -- ut31 ese37Minor allele frequency- A:0.01NS EA NA 488
rs289594731,2
C--131240239(+) AAGAAG/CAGACA 1 -- ut31 trp34Minor allele frequency- C:0.01NS NA 94
rs117615561,2
C,F,A,H--131240251(+) GAGGGC/AAAGGG 1 -- ut3127Minor allele frequency- A:0.45NA NS EA CSA WA 2671
rs289594741,2
C,F,H--131240408(+) CTGAGG/ATGTCT 1 -- ut31 ese310Minor allele frequency- A:0.10NS NA WA 1102
rs1922322281,2
--131240428(+) TGCTCA/TCAAAA 1 -- ut310--------
rs2004319041,2
C--131240501(+) TGTAAA/C/TTTAAA 2 -- ut310--------
rs289594751,2
C,F--131240593(+) AAGGTC/AACTAG 1 -- ut31 ese34Minor allele frequency- A:0.08NS CSA WA 210
rs289594761,2
C,F--131240745(+) AGTACA/TGTGAG 1 -- ut31 ese32Minor allele frequency- T:0.04NS 88
rs2005151791,2
C--131240802(+) CGTCTA/TAAAAA 1 -- ut310--------
rs562474561,2
C--131240820(+) AAAAA-/AA/AAA
        
GTTTG
2 --