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

LMNA Gene

protein-coding   GIFtS: 71
GCID: GC01P156053

lamin A/C

(Previous names: cardiomyopathy, dilated 1A (autosomal dominant), limb girdle...)
(Previous symbols: LMN1, CMD1A, LGMD1B, PRO1, LMNL1)
 Explore 126 diseases affiliated with
LMNA via our new
 Human Malady Compendium 
Biological research products
for LMNA
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Lamin A/C1 2     70 KDa Lamin2
LMN11 2 3 5     CDCD12
CMD1A1 2 5     CDDC2
HGPS1 2 5     CMT2B12
LGMD1B1 2 5     FPL2
LMNL11 2     FPLD22
PRO11 2     IDC2
Lamin A/C-Like 11 2     LDP12
EMD22 5     LFP2
FPLD2 5     LMNC2
Cardiomyopathy, Dilated 1A (Autosomal Dominant)1     Lamin1
Limb Girdle Muscular Dystrophy 1B (Autosomal Dominant)1     Prelamin-A/C1
Progeria 1 (Hutchinson-Gilford Type)1     Renal Carcinoma Antigen NY-REN-322

External Ids:    HGNC: 66361   Entrez Gene: 40002   Ensembl: ENSG000001607897   OMIM: 1503305   UniProtKB: P025453   

Export aliases for LMNA gene to outside databases

Previous GC identifers: GC01P153921 GC01P151817 GC01P152830 GC01P153301 GC01P152897 GC01P154318 GC01P127446


(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 LMNA:
The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The
lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix
is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in
nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B.
Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases:
Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated
cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. (provided by RefSeq, Apr 2012)

UniProtKB/Swiss-Prot: LMNA_HUMAN, P02545
Function: Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear
membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin
A and C are present in equal amounts in the lamina of mammals. Plays an important role in nuclear assembly, chromatin
organization, nuclear membrane and telomere dynamics
Function: Prelamin-A/C can accelerate smooth muscle cell senescence. It acts to disrupt mitosis and induce DNA damage
in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence

Gene Wiki entry for LMNA


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LMNA gene promoter:
         STAT1   STAT1beta   STAT1alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLMNA promoter sequence
   Search SABiosciences Chromatin IP Primers for LMNA

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


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

Entrez Gene cytogenetic band: 1q22   Ensembl cytogenetic band:  1q22   HGNC cytogenetic band: 1q22

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P156053:  view genomic region     (about GC identifiers)

Start:
156,052,364 bp from pter      End:
156,109,880 bp from pter
Size:
57,517 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: LMNA_HUMAN, P02545 (See protein sequence)
Recommended Name: Prelamin-A/C precursor  
Size: 664 amino acids; 74139 Da
Subunit: Homodimer of lamin A and lamin C. Interacts with lamin-associated polypeptides IA, IB and TMPO-alpha, RB1 and
with emerin. Interacts with SREBF1, SREBF2, SUN2 and TMEM43 (By similarity). Proteolytically processed isoform A
interacts with NARF. Interacts with SUN1. Prelamin-A/C interacts with EMD. Interacts with MLIP; may regulate MLIP
localization to the nucleus envelope. Interacts with DMPK; may regulate nuclear envelope stability
Subcellular location: Nucleus. Nucleus envelope. Note=Farnesylation of prelamin-A/C facilitates nuclear envelope
targeting and subsequent cleaveage by ZMPSTE24/FACE1 to remove the farnesyl group produces mature lamin-A/C, which can
then be inserted into the nuclear lamina. EMD is required for proper localization of non-farnesylated prelamin-A/C
Miscellaneous: There are three types of lamins in human cells: A, B, and C
Miscellaneous: The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the
disintegration and formation of the nuclear envelope in prophase and telophase, respectively
Sequence caution: Sequence=CAA27173.1; Type=Frameshift; Positions=582;
6/8 PDB 3D structures from and Proteopedia for LMNA (see all 8):
1IFR (3D)        1IVT (3D)        1X8Y (3D)        2XV5 (3D)        3GEF (3D)        3V4Q (3D)    
Secondary accessions: B4DI32 D3DVB0 E7EUI9 P02546 Q5TCJ2 Q5TCJ3 Q969I8 Q96JA2
Alternative splicing: 4 isoforms:  P02545-1   P02545-2   P02545-3   P02545-4   (No experimental confirmation available. Ref.3 (BAG58344) sequence is in conflict in position: 556:G->R)

Explore the universe of human proteins at neXtProt for LMNA: NX_P02545

Post-translational modifications:

  • Increased phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in regulating
  • lamin associations1
  • Proteolytic cleavage of the C-terminal of 18 residues of prelamin-A/C results in the production of lamin-A/C. The
  • prelamin-A/C maturation pathway includes farnesylation of CAAX motif, ZMPSTE24/FACE1 mediated cleavage of the last
    three amino acids, methylation of the C-terminal cysteine and endoproteolytic removal of the last 15 C-terminal amino
    acids. Proteolytic cleavage requires prior farnesylation and methylation, and absence of these blocks cleavage1
  • Sumoylation is necessary for the localization to the nuclear envelope1
  • Farnesylation of prelamin-A/C facilitates nuclear envelope targeting1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P02545

  • LMNA Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_001244303.1  NP_005563.1  NP_733821.1  NP_733822.1  

    ENSEMBL proteins: 
     ENSP00000357284   ENSP00000357283   ENSP00000357282   ENSP00000395597   ENSP00000424518  
     ENSP00000357280   ENSP00000426535   ENSP00000421821   ENSP00000424977   ENSP00000292304  
     ENSP00000355292   ENSP00000376164  
    Reactome Protein details: P02545
    Human Recombinant Protein Products: 
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    Novus Biologicals LMNA Protein
    Novus Biologicals LMNA Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for LMNA
    Uscn Proteins for LMNA

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005626insoluble fraction ----
    GO:0005634nucleus IDA--
    GO:0005635nuclear envelope TAS--
    GO:0005638lamin filament TAS10080180
    GO:0005652nuclear lamina TAS8344919


    LMNA for ontologies           About GeneDecksing



    LMNA Antibody Products: 
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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    LMNA for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR016044 F
     IPR001322 Lamin_tail_dom

    Graphical View of Domain Structure for InterPro Entry P02545

    ProtoNet protein and cluster: P02545

    2 Blocks protein families:
    IPB001322 Intermediate filament
    IPB001664 Intermediate filament protein


    UniProtKB/Swiss-Prot: LMNA_HUMAN, P02545
    Similarity: Belongs to the intermediate filament family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: LMNA_HUMAN, P02545
    Function: Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear
    membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin
    A and C are present in equal amounts in the lamina of mammals. Plays an important role in nuclear assembly, chromatin
    organization, nuclear membrane and telomere dynamics
    Function: Prelamin-A/C can accelerate smooth muscle cell senescence. It acts to disrupt mitosis and induce DNA damage
    in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence

         Genatlas biochemistry entry for LMNA:
    lamin,types A and C,common gene,alternatively spliced isoforms

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LMNA
    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate LMNA (see all 15):
    hsa-miR-3163 hsa-miR-548d-3p hsa-miR-222* hsa-miR-767-5p hsa-miR-16-1* hsa-miR-548aa hsa-miR-221* hsa-miR-942
    SwitchGear 3'UTR luciferase reporter plasmidLMNA 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for LMNA (see all 7)
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat LMNA

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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMNA

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity TAS8344919
    GO:0005515protein binding IPI10727209


    LMNA for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for LMNA:
     Increased S DNA content  Increased gamma-H2AX phosphory  Upregulation of Wnt/beta-caten 

    Animal Models:
         Mouse knock-outs for LMNA: Lmnatm6Lgf Lmnatm1Stw Lmnatm4Lgf Lmnatm5Lgf Lmnatm1Lgf Lmnatm2Lgf
         15/25 MGI mutant phenotypes (inferred from 16 alleles(MGI details for Lmna) (see all 25):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  hematopoietic system 
     homeostasis/metabolism  immune system  integument  limbs/digits/tail  liver/biliary system 

    LMNA for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/20 super-pathways (see all 20About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Apoptosis and survival_Caspase cascade
    Apoptosis and survival_Caspase cascade1.00
    Apoptosis and survival FAS signaling cascades0.44
    Apoptosis and survival Caspase cascade1.00
    Caspase cascade in apoptosis0.42
    Apoptosis and survival_FAS signaling cascades0.44
    FAS pathway and Stress induction of HSP regulation0.33
    2Clearance of Nuclear Envelope Membranes from Chromatin
    Clearance of Nuclear Envelope Membranes from Chromatin1.00
    Nuclear Envelope Breakdown0.56
    Initiation of Nuclear Envelope Reformation0.69
    Mitotic Prophase0.26
    Nuclear Envelope Reassembly0.69
    3M Phase
    M Phase1.00
    Mitotic Metaphase and Anaphase0.85
    Mitotic M-M/G1 phases0.88
    Mitotic Anaphase0.85
    4Meiotic Synapsis
    Meiotic Synapsis1.00
    Meiosis0.70
    Telomere clustering at the nuclear membrane0.82
    Chromosome Maintenance0.56
    5Activation of Chaperone Genes by XBP1(S)
    Activation of Chaperone Genes by XBP1(S)1.00
    Unfolded Protein Response0.71
    Activation of Chaperones by IRE1alpha0.94

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for LMNA
        Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LMNA
        Caspase Cascade
    Granzyme Pathway
    Fas Signaling

    3 Cell Signaling Technology (CST) Pathways for LMNA
        Apoptosis and Autophagy
    Cell Cycle / Checkpoint Control
    Cytoskeletal Signaling

    2 GeneGo (Thomson Reuters) Pathways for LMNA
        Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades

    4 BioSystems Pathways for LMNA 
        FAS pathway and Stress induction of HSP regulation
    Adipogenesis
    Arrhythmogenic right ventricular cardiomyopathy
    Caspase cascade in apoptosis

    5/24        Reactome Pathways for LMNA (see all 24)
        Initiation of Nuclear Envelope Reformation
    Clearance of Nuclear Envelope Membranes from Chromatin
    Cell Cycle
    M Phase
    Apoptosis

    1 PharmGKB Pathway for LMNA
        Antiarrhythmic Pathway, Pharmacodynamics

    3         Kegg Pathways  (Kegg details for LMNA):
        Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    Dilated cardiomyopathy


    LMNA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LMNA

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

    5/921 Interacting proteins for LMNA (P025451, 2, 3 ENSP000003572834) via UniProtKB, MINT, STRING, and/or I2D (see all 921)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST2H3AQ71DI32, 3, ENSP000003854794MINT-7893990 MINT-7893924 MINT-7894005 MINT-7894023 MINT-7893941 MINT-7894038 I2D: score=1 STRING: ENSP00000385479
    HIST2H3CQ71DI32, 3MINT-7893990 MINT-7893924 MINT-7894005 MINT-7894023 MINT-7893941 MINT-7894038 I2D: score=1 
    HIST2H3DQ71DI32, 3MINT-7893990 MINT-7893924 MINT-7894005 MINT-7894023 MINT-7893941 MINT-7894038 I2D: score=1 
    ACTBP607092, 3, ENSP000003499604MINT-7945693 MINT-7899812 MINT-7947479 I2D: score=2 STRING: ENSP00000349960
    H2AFXP161042, 3, ENSP000003643104MINT-8361862 MINT-7899812 I2D: score=2 STRING: ENSP00000364310
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--
    GO:0006987activation of signaling protein activity involved in unfolded protein response TAS--
    GO:0006997nucleus organization ----
    GO:0006998nuclear envelope organization IEA--


    LMNA for ontologies           About GeneDecksing



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

    LMNA for compounds           About GeneDecksing

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

    Browse Tocris compounds for LMNA
    10/18 Novoseek chemical compound relationships for LMNA gene (see all 18)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nelfinavir 23.7 2 14600514 (1), 18344876 (1)
    rosiglitazone 18 2 14510863 (2)
    indinavir 17.1 4 14600514 (1), 16184025 (1), 12844477 (1)
    zinc 14.2 12 16278265 (1), 19494770 (1), 19323649 (1), 15998779 (1) (see all 7)
    retinoic acid 12.4 18 15219855 (3), 10694499 (3), 12844477 (2), 11478838 (1) (see all 8)
    deoxyribonucleic acid 6.22 1 12015247 (1)
    calcium 0.975 2 1467310 (1), 19144047 (1)
    cholesterol 0 4 11136544 (1), 12524233 (1), 17994215 (1), 15205219 (1)
    atp 0 6 1965140 (2), 15892163 (1), 2004657 (1)
    lipid 0 3 20130076 (2), 16181372 (1)

    Search CenterWatch for drugs/clinical trials and news about LMNA 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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    About This Section

    REFSEQ mRNAs for LMNA gene (4 alternative transcripts): 
    NM_001257374.1  NM_005572.3  NM_170707.3  NM_170708.3  

    Unigene Cluster for LMNA:

    Lamin A/C
    Hs.594444  [show with all ESTs]
    Unigene Representative Sequence: NM_170707
    18/26 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000502751 ENST00000368301(uc001fnf.1) ENST00000495341 ENST00000470835
    ENST00000515711 ENST00000368300(uc001fng.2 uc001fni.2 uc009wro.1 uc001fnk.2)
    ENST00000470199 ENST00000478063 ENST00000469565 ENST00000368299 ENST00000502357
    ENST00000448611(uc010pgz.1) ENST00000515459 ENST00000368297 ENST00000504687
    ENST00000473598 ENST00000515824 ENST00000496738(uc001fnj.2 uc010pha.1)


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    Inhib. RNA
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LMNA 
    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LMNA

    Additional cDNA sequence: 

    AF381029.1 AK026584.1 AK056143.1 AK056191.1 AK057997.1 AK097801.1 AK098128.1 AK122732.1 
    AK130179.1 AK294217.1 AK295390.1 AK309539.1 AY357727.1 AY528714.1 AY847595.1 AY847596.1 
    AY847597.1 BC000511.2 BC003162.1 BC014507.1 BC018863.2 BC033088.1 M13451.1 M13452.1 
    NR_047544.1 NR_047545.1 X03444.1 X03445.1 

    24/79 DOTS entries (see all 79):

    DT.100891747  DT.91871177  DT.92469899  DT.95246279  DT.100891714  DT.95294580  DT.100891710  DT.121347135 
    DT.100891740  DT.92469913  DT.100891733  DT.92057489  DT.101986435  DT.121347131  DT.121347084  DT.100891726 
    DT.95322263  DT.99987681  DT.121347143  DT.121347120  DT.100891698  DT.100039687  DT.100891751  DT.320389 

    24/1597 AceView cDNA sequences (see all 1597):

    BG260177 CA395830 CA423881 CB528890 CB138659 BE408991 W23629 BU542321 
    AU139796 BE336696 CA406353 CA841908 BU174781 CB130594 AI219557 BQ686823 
    BE902429 BM795146 BE885040 BE273844 BQ431561 CB152958 CD367718 BQ933009 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for LMNA    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c
    SP1:                                            -                                   -                                 
    SP2:                                            -                                   -           -                     
    SP3:                                            -                                                                     
    SP4:                                                                                                                  


    ECgene alternative splicing isoforms for LMNA

    (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

    LMNA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGAGGGGGCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    LMNA expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular NodeAtrioventricular Node CellsMyocardium
    OvaryPrimary FolliclePrimary OocyteFemale Gametocytes, Germ Cells
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Secondary follicles (Primary Cell)Ovary, Reproductive System

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

    SOURCE GeneReport for Unigene cluster: Hs.594444

    UniProtKB/Swiss-Prot: LMNA_HUMAN, P02545
    Tissue specificity: In the arteries, prelamin-A/C accumulation is not observed in young healthy vessels but is
    prevalent in medial vascular smooth muscle cells (VSMCs) from aged individuals and in atherosclerotic lesions, where
    it often colocalizes with senescent and degenerate VSMCs. Prelamin-A/C expression increases with age and disease. In
    normal aging, the accumulation of prelamin-A/C is caused in part by the down-regulation of ZMPSTE24/FACE1 in response
    to oxidative stress

        SABiosciences Expression via Pathway-Focused PCR Arrays including LMNA: 
              TNF Ligands & Receptors in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Adipogenesis in human mouse rat

    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for LMNA
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat LMNA
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat LMNA
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LMNA
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMNA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for LMNA gene from 4/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    73(a)
    55(a)
    1 ↔ many
    1 ↔ many
    GL344336.1(8415-20568)
    2(41214999-41216574)
    African clawed frog
    (Xenopus laevis)
    Amphibia lmna-A2 lamin A/C 76.67(n)    X06345.1 
    zebrafish
    (Danio rerio)
    Actinopterygii lmna2 lamin A 76.11(n)   195815  AF397016.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta LamC3 nuclear envelope reassembly 37(a)
    (best of 2)
      51B1   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LMNA gene
    LMNB12  SYNM2  VIM2  INA2  NES2  PRPH2  DES2  NEFM2  
    LMNB22  NEFH2  GFAP2  
    5 SIMAP similar genes for LMNA using alignment to 9 protein entries:     LMNA_HUMAN (see all proteins):
    LMNB1    LMNB2    VIM    KRT5    keratin

    LMNA for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    965/1087 NCBI SNPs in LMNA are shown (see all 1087    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs115496691,2
    Cnon-pathogenic156084714(+) CATGGA/GGACCC 7 E G mis1 ese30--------
    rs115496681,2
    C,F,non-pathogenic156084760(+) GCCAGC/TTCCAC 7 S syn15Minor allele frequency- T:0.01NA NS EU 2677
    rs413138801,2
    C,F,non-pathogenic156100408(+) TTTAGC/TAATAC 10 C R syn12Minor allele frequency- T:0.00NA EU 5759
    rs803568051,2
    C,F,non-pathogenic156100489(+) GAGGCC/TGCACT 10 A syn13Minor allele frequency- T:0.01CSA NA 4524
    rs121175521,2
    C,F,H,non-pathogenic156104292(+) GAACTG/AGACTT 10 /L nc-transcript-variantsyn112Minor allele frequency- A:0.01NS EA NA EU 7141
    rs112644421,2
    C,F,non-pathogenic156104375(+) CTTGGA/G/TCTGGG 6 -- int17NA WA EA EU 1608
    rs112644431,2
    C,non-pathogenic156104392(+) NNNNCC/TAGCTG 6 -- int15Minor allele frequency- T:0.05NA WA EA 362
    rs803568071,2
    Cnon-pathogenic156104586(+) CTCCAA/C/GCCCTT 6 -- int10--------
    rs115496661,2
    C,Hnon-pathogenic156104647(+) TTGACA/CATGGG 10 N H mis1 ese34Minor allele frequency- C:0.00NS EA 406
    rs582358101,2
    Cnon-pathogenic156104679(+) CGGCTA/GGCGGA 10 L nc-transcript-variantsyn10--------
    rs112644441,2
    C,F,H,non-pathogenic156104779(+) CTCTCG/TATTGG 6 -- int115Minor allele frequency- T:0.08NS EA NA CSA WA EU 2611
    rs112644451,2
    C,F,non-pathogenic156104827(+) ACCCAC/TGCTGG 6 -- int14Minor allele frequency- T:0.29CSA WA 126
    rs803568091,2
    C,F,non-pathogenic156104965(+) CTTTGT/ACCTCC 6 -- int11Minor allele frequency- A:0.00EU 963
    rs5380891,2
    C,F,A,non-pathogenic156105028(-) TGGGCA/GGCCCC 10 A nc-transcript-variantsyn1 ese311Minor allele frequency- G:0.21NA WA CSA EA EU 5834
    rs6468401,2
    C,F,A,H,non-pathogenic156105609(+) GCCAGC/G/TTGTCT 6 -- int113NS EA NA WA CSA 783
    rs115496671,2
    Cnon-pathogenic156105777(+) GGAAAA/CGGAGC 10 K T mis1 trp30--------
    rs611773901,2
    Cnon-pathogenic156105783(+) GGAGCA/GGGAGA 10 Q R mis10--------
    rs579013071,2
    Cnon-pathogenic156105853(+) ATCAAA/GCTGGC 10 K syn10--------
    rs5348071,2
    C,F,A,non-pathogenic156105928(-) CCCGAC/TGTCTC 6 -- int18Minor allele frequency- T:0.20NA WA CSA EA 371
    rs168371981,2
    C,F,non-pathogenic156105962(+) CCGGCA/GACTGG 6 -- int16Minor allele frequency- G:0.08NA CSA WA 256
    rs612174361,2
    Cnon-pathogenic156106146(+) CAGCAC/TGCACG 10 H syn10--------
    rs5050581,2
    C,F,A,H,non-pathogenic156106185(-) TCCTCA/GTCCAC 10 D nc-transcript-variantsyn130Minor allele frequency- C:0.00EA NA MN NS WA CSA EU 7080
    rs5530161,2
    C,F,A,H,non-pathogenic156106863(-) CCATCG/ACCACC 6 -- int126Minor allele frequency- A:0.19EA NA NS WA CSA EU 2951
    rs803568121,2
    C,non-pathogenic156106999(+) CGTACA/GGCTCT 10 T syn10--------
    rs46411,2
    C,F,H,non-pathogenic156107534(+) CACCAC/TGTGAG 9 H nc-transcript-variantsyn1 int1 ese322Minor allele frequency- T:0.20MN EA NA NS WA 6526
    rs803568131,2
    C,F,non-pathogenic156108341(+) GTGCTG/ATGCGG 6 /L syn11Minor allele frequency- A:0.00NA 3564
    rs137681,2
    Cnon-pathogenic156108451(+) CACTCA/G/TCAGCT 9 H R L mis1 ese33MN NA 188
    rs803568141,2
    Cnon-pathogenic156108488(+) GGCAGC/TTTCGG 6 S syn10--------
    rs73391,2
    C,F,A,non-pathogenic156108976(-) CATGAC/GGTGCA 3 -- int1 ut31 ese310Minor allele frequency- G:0.14MN NA WA CSA EA 555
    rs20707541,2
    Cnon-pathogenic156109044(+) TTTTCT/AAAGAG 3 -- int1 ut31 trp31Minor allele frequency- A:0.00NA 2
    rs7086051,2
    Cnon-pathogenic156109089(+) AAAACA/CCAAGC 3 -- ut31 int11Minor allele frequency- C:0.00NA 2
    rs115496651,2
    Cnon-pathogenic156109238(+) TTATAG/TAGGCT 3 -- int1 ut31 ese30--------
    rs32045641,2
    Cnon-pathogenic156109636(+) CTTTAG/AACCCT 3 -- ut31 ese31Minor allele frequency- A:0.00MN 184
    rs152921,2
    C,non-pathogenic156109812(+) CTTGCC/TTCCCC 3 -- ut31 ese30--------
    rs610464661,2
    Cpathogenic156084725(+) CGTCCC/TAGCGG 7 Q * stg10--------
    rs589229111,2
    Cpathogenic156084885(+) AGGGCG/TGCGCC 7 R L nc-transcript-variantmis10--------
    rs289289001,2
    Cpathogenic156084887(+) GGCTGC/GGCCTT 7 R G mis1 ese32Minor allele frequency- G:0.00NA 4
    rs289330901,2
    C,Fpathogenic156084963(+) CGAGCT/GCGGGG 7 /R /L mis15Minor allele frequency- G:0.10EA NS NA 664
    rs608642301,2
    Cpathogenic156100449(+) GGCTCC/G/TGCTGA 16 P R L mis10--------
    rs606522251,2
    Cpathogenic156100470(+) GGCTCC/G/TGCTGA 16 P R L nc-transcript-variantmis10--------
    rs589126331,2
    Cpathogenic156100479(+) GAACTC/TCAAGG 10 S F nc-transcript-variantmis10--------
    rs603102641,2
    Cpathogenic156100484(+) CCAAGA/GAGGCC 10 K E mis10--------
    rs289330931,2
    Cpathogenic156100532(+) AGGGCA/GAGCTG 10 K E mis10--------
    rs289330911,2
    Cpathogenic156104265(+) GAGAAA/C/GAGGCT 16 K N mis10--------
    rs612149271,2
    Cpathogenic156104644(+) AGATTA/GACAAT 10 N D mis10--------
    rs1219124961,2
    Cpathogenic156104701(+) AACTGC/TGGGCC 10 R W mis10--------
    rs580480781,2
    Cpathogenic156104733(+) CAGTAA/TAAGAA 10 * Y stg10--------
    rs598853381,2
    Cpathogenic156105059(+) GCATCC/TGCATC 10 R C mis10--------
    rs604580161,2
    Cpathogenic156105827(+) TGGACA/G/TAGTAC 16 K E * mis1 stg10--------
    rs616728781,2
    Cpathogenic156105885(+) CTACCA/G/TCAAGC 16 H R L mis10--------
    rs1219124951,2
    Cpathogenic156105894(+) GCTCTC/TGGAGG 10 S L nc-transcript-variantmis10--------
    rs586721721,2
    Cpathogenic156106042(+) GCAGCC/TGTGGC 10 R C mis10--------
    rs1219124931,2
    Cpathogenic156106165(+) GGCGCA/GTGGCC 10 M V nc-transcript-variantmis10--------
    rs589327041,2
    Cpathogenic156106204(+) TTGTCC/TGGCTG 10 R W mis10--------
    rs612821061,2
    Cpathogenic156106725(+) CATGGA/GCAATT 10 D G nc-transcript-variantmis10--------
    rs289289021,2
    Cpathogenic156106742(+) TCAAGC/G/TGCCAG 16 R G C mis1 ese31NA 2
    rs115759371,2
    Cpathogenic156106776(+) TTACCA/G/TGTTCC 16 Q R L mis11NA 2
    rs566994801,2
    Cpathogenic156106808(+) CTGGGC/TAGGTG 10 Q * stg10--------
    rs573186421,2
    Cpathogenic156106994(+) GCCTGC/TGTACG 10 R C nc-transcript-variantmis10--------
    rs575208921,2
    Cpathogenic156106995(+) CCTGCA/C/GTACGG 16 H P R mis10--------
    rs1219124941,2
    Cpathogenic156107000(+) GTACGA/GCTCTC 10 T A mis10--------
    rs605805411,2
    Cpathogenic156107001(+) TACGGC/TTCTCA 10 A V mis10--------
    rs609340031,2
    Cpathogenic156107004(+) GGCTCC/TCATCA 10 P L mis10--------
    rs566731691,2
    Cpathogenic156107462(+) CGCAAC/GCTGGT 9 N K mis1 int10--------
    rs803389381,2
    Cpathogenic156107547(+) GTAGCA/C/TGCCGC 10 S R C int1 nc-transcript-variantmis10--------
    rs608906281,2
    Cpathogenic156108298(+) CAGCTC/TGGGGG 6 S L mis10--------
    rs578309851,2
    C,pathogenic156108325(+) CCTGCA/GCTCGC 6 H R mis10--------
    rs598862141,2
    Cpathogenic156108401(+) CAGGTA/GGGCGG 6 V syn10--------
    rs610641301,2
    Cpathogenic156108402(+) AGGTGA/GGCGGA 6 S G mis10--------
    rs585963621,2
    Cpathogenic156108404(+) GTGGGC/TGGACC 6 G syn10--------
    rs583275331,2
    Cuntested156084782(+) CCACCC/G/TGCATC 11 R G C mis10--------
    rs579668211,2
    Cuntested156084808(+) AAGGAC/G/TGACCT 11 D E nc-transcript-variantmis10--------
    rs577937371,2
    Cuntested156084897(+) TCGCAA/G/TCACCG 11 N S I mis10--------
    rs570458551,2
    Cuntested156104255(+) GGTGGA/G/TTGCTG 16 D G V nc-transcript-variantmis10--------
    rs605783281,2
    Cuntested156104731(+) AGCAGC/G/TATAAG 16 H D Y nc-transcript-variantmis10--------
    rs1809266991,2
    C,untested156105646(+) CCCATA/GCTTAG 6 -- int10--------
    rs2676075451,2
    Cuntested156105912(+) GGAGAA/G/TGTGGG 16 K R M mis10--------
    rs1418794531,2
    C,untested156105961(+) GCCGGC/TAACTG 6 -- int10--------
    rs1508409241,2
    Cuntested156106150(+) ACGCAC/TGCACT 10 R C nc-transcript-variantmis11Minor allele frequency- T:0.00NA 4372
    rs626365061,2
    Cuntested156106162(+) GCGGGC/TGCGTG 10 R C mis11Minor allele frequency- T:0.00NA 4248
    rs599811611,2
    Cuntested156106789(+) CCAAAC/G/TTTCAC 16 N K mis10--------
    rs2676075431,2
    Cuntested156106824(+) GGTGAA/C/GTGGCA 6 -- int10--------
    rs580133251,2
    Cuntested156106941(+) CCCCC-/CTACCG 10 P PY nc-transcript-variantfra10--------
    rs2015839071,2
    Cuntested156106982(+) GCTGCA/GGGAAC 10 R G nc-transcript-variantmis10--------
    rs576293611,2
    Cuntested156106998(+) GCGTAA/C/G/
            
    GGCTC
    22 K T R M mis10--------
    rs569845621,2
    Cuntested156107457(+) CCATGA/C/G/
            
    GCAAG
    19 S R G C mis1 int10--------
    rs614444591,2
    Cuntested156107458(+) CATGCA/C/GCAAGC 14 H P R nc-transcript-variantmis1 int10--------
    rs606623021,2
    C,F,untested156108384(+) CCAGCG/AGCTCA 6 /S /G mis11Minor allele frequency- A:0.00NA 3870
    rs1420009631,2
    C,Funtested156108510(+) TCACCA/C/TGCTCC 9 S R C mis12NA EU 5603
    rs1134362081,2
    Cuntested156108549(+) CCCAGA/C/GTGAGT 3 -- spd11CSA 1
    rs802642441,2
    C,F,untested156108574(+) CTCCAA/GATCCT 3 -- int14Minor allele frequency- G:0.01CSA WA EU 1393
    rs1939227241,2
    Cunknown156100388(+) ATCTAC/TTCTCC 6 -- int10--------
    rs1929765481,2
    --156050437(+) CCCACC/TCAGGG 2 -- int1 us2k10--------
    rs1846465951,2
    --156050550(+) GTGAAG/TGTTTC 2 -- us2k1 int10--------
    rs1884595901,2
    --156050628(+) TCTGGC/TCCAAG 2 -- us2k1 int10--------
    rs1913813731,2
    --156050666(+) GAGAGA/GGAAGA 2 -- us2k1 int10--------
    rs1496909311,2
    --156051100(+) TGCGAA/GGATAT 2 -- int1 us2k10--------
    rs1836182471,2
    --156051172(+) GTAACA/GGGGAA 2 -- int1 us2k10--------
    rs1471209451,2
    --156051821(+) AGAGG-/GAGAGAG 2 -- us2k10--------
    rs741164771,2
    C,--156052147(+) TCTAGC/ACCCCG 2 -- us2k12Minor allele frequency- A:0.12WA 120
    rs120221321,2
    C,--156052286(+) GCATGG/AAACTG 2 -- us2k18Minor allele frequency- A:0.00NA WA CSA EA 250
    rs1895579581,2
    --156052507(+) GGAAAC/TAGAGC 2 -- int1 us2k10--------
    rs67039831,2
    C,A,H,--156052656(+) CCGCTC/GGCTCA 2 -- int1 us2k14Minor allele frequency- G:0.28NA WA 242
    rs1818262261,2
    --156052828(+) CTGCGC/TGTTGT 2 -- us2k1 nc-transcript-variant0--------
    rs115782301,2
    C,H--156052935(+) CCCCCC/GCCCCC 2 -- nc-transcript-variantus2k1 ese30--------
    rs1148871081,2
    F,--156053027(+) CGGTGG/AAGTGA 2 -- int1 us2k11Minor allele frequency- A:0.03WA 118
    rs1114632621,2
    C,--156053130(+) TAACCG/ATTTGG 2 -- us2k1 int11Minor allele frequency- A:0.50WA 2
    rs1854362011,2
    --156053172(+) AGGGAA/GGAGAG 2 -- int1 us2k10--------
    rs1899034391,2
    --156053453(+) GCCGAG/TCATGG 2 -- int1 us2k10--------
    rs1391936351,2
    C,--156053590(+) AAACA-/AAAC  
            
    AAACA
    2 -- us2k1 int10--------
    rs1159672001,2
    C,F,--156053631(+) GACTCC/TGGAAA 2 -- int1 us2k11Minor allele frequency- T:0.02WA 118
    rs1469732341,2
    --156053710(+) GAGTGA/TAATGC 2 -- int1 us2k10--------
    rs1815982991,2
    --156053979(+) AACAGA/TTGAAT 1 -- int10--------
    rs1863204261,2
    --156054001(+) ACTTAC/GCAATG 1 -- int10--------
    rs1381305361,2
    --156054035(+) TTAGTA/CCAGTT 1 -- int10--------
    rs1422433901,2
    --156054055(+) GTTTCG/TTGGAA 1 -- int10--------
    rs1996418441,2
    --156054117(+) GAAGG-/TTCGGG 1 -- int10--------
    rs749658331,2
    C--156054119(+) AAGGTT/CGGGGG 1 -- int12Minor allele frequency- C:0.25NA 4
    rs1425163591,2
    C,--156054125(+) GGGGG-/GTGGTGG 1 -- int10--------
    rs599700031,2
    C,F--156054126(+) GGGGGC/G/TGGTGG 1 -- int12NA 4
    rs2005482761,2
    --156054128(+) GGGTG-/GTGGGGG 1 -- int10--------
    rs757895581,2
    C--156054129(+) GGTGGG/TGGGGG 1 -- int11Minor allele frequency- T:0.00NA 2
    rs2016308131,2
    --156054129(+) GGTGG-/TGGGGG 1 -- int10--------
    rs1899439651,2
    --156054304(+) CTACTC/GCCACC 1 -- int10--------
    rs1462143621,2
    --156054785(+) GTGGGC/TGAGGC 1 -- int10--------
    rs1480826251,2
    --156054837(+) AGAATC/GAATCA 1 -- int10--------
    rs567081151,2
    C,--156055070(+) TCTCAG/AAGTGT 1 -- int11Minor allele frequency- A:0.50WA 2
    rs769090241,2
    --156055092(+) CCTTCG/TCTCTC 1 -- int10--------
    rs120767001,2
    C,F,--156055099(+) TCTCTC/GCCGGA 1 -- int18Minor allele frequency- G:0.42NA WA EA 368
    rs120635641,2
    C,F,A,H,--156055185(+) TTCCCT/CGCTTG 1 -- int1 trp327Minor allele frequency- C:0.47NS EA NA WA CSA 2776
    rs1387546911,2
    --156055250(+) CCACTC/TTCTGC 1 -- int10--------
    rs120356151,2
    C,F,A,H,--156055344(+) TGGTCC/TCCAAC 1 -- int125Minor allele frequency- T:0.11NS EA NA CSA WA 2768
    rs120356541,2
    C,F,A,--156055382(+) CCCTGC/TCCAGA 1 -- int18Minor allele frequency- T:0.14NA CSA WA EA 368
    rs1420476271,2
    --156055408(+) GGGTAG/TGTTGA 1 -- int10--------
    rs1463518481,2
    --156055461(+) AGCAGA/GTCTCC 1 -- int10--------
    rs1397214661,2
    --156055847(+) AAAAAA/GTAAAA 1 -- int10--------
    rs1808480261,2
    --156056101(+) AGACTC/TGCTGA 1 -- int10--------
    rs1444929561,2
    --156056535(+) AAGCTA/GTTCTC 1 -- int10--------
    rs1444137931,2
    --156056770(+) CTGGGC/TACCTG 1 -- int10--------
    rs1486117661,2
    --156056841(+) CCTTAA/GCCCTA 1 -- int10--------
    rs115786961,2
    C,F,H,--156056968(+) NNNNTA/GTCTGT 1 -- int114Minor allele frequency- G:0.06NS EA NA 1352
    rs1849688011,2
    --156057104(+) ATCTCA/GGCTCA 1 -- int10--------
    rs112644341,2
    C,F,--156057327(+) GCGCCC/TGGCTC 1 -- int17Minor allele frequency- T:0.46NA WA CSA EA 366
    rs1909531381,2
    --156057405(+) AGTGGC/TTTGAT 1 -- int10--------
    rs1129412171,2
    --156057417(+) ATGGCT/CCACTG 1 -- int13Minor allele frequency- C:0.05CSA WA 121
    rs1837993941,2
    --156057464(+) CTCAGC/TCTCTC 1 -- int10--------
    rs1420366371,2
    --156057626(+) GGAATC/GAGCCA 1 -- int10--------
    rs1511458501,2
    --156057694(+) TGTCTC/TGCTCG 1 -- int10--------
    rs1887602951,2
    --156057789(+) TCCTGA/GGTAGC 1 -- int10--------
    rs1915597951,2
    --156057904(+) GATCCA/GCCCGC 1 -- int10--------
    rs1451523661,2
    --156058017(+) CTAACC/TACCGT 1 -- int10--------
    rs1834226791,2
    --156058324(+) AGCACG/TGTGGC 1 -- int10--------
    rs1476088831,2
    --156058365(+) AAGGTA/GGAAGG 1 -- int10--------
    rs1422009611,2
    --156058464(+) GAGACA/GGAGTC 1 -- int10--------
    rs727082551,2
    C,F,--156058854(+) ACTTCG/AAACTC 1 -- int11Minor allele frequency- A:0.03NA 120
    rs1871927241,2
    --156059010(+) TGATCC/TGCCTA 1 -- int10--------
    rs1173326231,2
    F,--156059046(+) TGCAGG/ACATGT 1 -- int11Minor allele frequency- A:0.08EA 120
    rs1407123921,2
    --156059071(+) CCTTG-/TTTA  
            
    TTTAT
    1 -- int10--------
    rs1501637801,2
    --156059189(+) TCAAGC/TGATTC 1 -- int10--------
    rs1916878471,2
    --156059232(+) CAGGCA/GCGCAC 1 -- int10--------
    rs112644351,2
    C,F,A,H,--156059276(+) GAGACA/GGGGTT 1 -- int14Minor allele frequency- G:0.38NA 8
    rs1489037351,2
    --156059344(+) CCTCCA/GTTGCA 1 -- int10--------
    rs727082561,2
    C,F,--156059392(+) AAAAAG/AAAAGA 1 -- int13Minor allele frequency- A:0.40WA CSA 5
    rs1158601741,2
    --156059482(+) TTGTTG/TTGGAT 1 -- int11Minor allele frequency- T:0.01NA 120
    rs1838633601,2
    --156059501(+) CAAGGA/GCTTTG 1 -- int10--------
    rs1867425731,2
    --156059694(+) GGCTGA/GACCCA 1 -- int10--------
    rs1932819641,2
    --156059775(+) CTCTGA/GTTTCG 1 -- int10--------
    rs46611461,2
    C,F,A,H,--156060150(+) GATCTG/CTCATG 1 -- int126Minor allele frequency- C:0.42EA NS NA WA 2934
    rs1855439981,2
    --156060319(+) TTCACA/GTGAAG 1 -- nc-transcript-variant0--------
    rs1904052341,2
    --156060438(+) AGAGGC/TAGACA 1 -- int10--------
    rs101578031,2
    H--156060488(+) GGGAGT/GGGTTC 1 -- int14Minor allele frequency- G:0.00NS EA 392
    rs1432161661,2
    --156060595(+) TTGCTC/GGTTGA 1 -- int10--------
    rs286534801,2
    C,F,--156060657(+) AACACA/GTCTTT 1 -- int110Minor allele frequency- G:0.49NA WA CSA EA 371
    rs560513421,2
    --156060699(+) AATTCC/GTAGAA 1 -- int10--------
    rs1483027401,2
    --156060785(+) GCTTCC/TTCAGG 1 -- int10--------
    rs1420206061,2
    --156060940(+) TCACCC/TGGAGA 1 -- int10--------
    rs1850904731,2
    --156060986(+) CGCCCC/TTCTGA 1 -- int10--------
    rs75421861,2
    C,F,A,--156061222(+) AACCCC/GGTCTC 1 -- int17Minor allele frequency- G:0.23NA WA CSA 13
    rs1886259271,2
    --156061223(+) ACCCGA/GTCTCT 1 -- int10--------
    rs587136981,2
    --156061261(+) GGTGGC/TGCATA 1 -- int10--------
    rs75319421,2
    C,F,A,--156061286(+) TACTCA/GGGAGG 1 -- int15Minor allele frequency- G:0.33NA WA CSA 9
    rs1430061481,2
    --156061311(+) TCTCTC/TGAACC 1 -- int10--------
    rs1852035901,2
    --156061388(+) AACTCC/TGTCTC 1 -- int10--------
    rs1896188261,2
    --156061389(+) ACTCCA/GTCTCA 1 -- int10--------
    rs1825807321,2
    --156061686(+) AACATA/CGTGAG 1 -- int10--------
    rs1506685631,2
    --156061794(+) ACCTCC/TGCCTC 1 -- int10--------
    rs1871485491,2
    --156062062(+) TCTTAA/GCTACT 1 -- int10--------
    rs1921152121,2
    --156062091(+) GGAGCA/GCTTGA 1 -- int10--------
    rs1399469051,2
    --156062150(+) GTGACA/CGAGCG 1 -- int10--------
    rs1835336011,2
    --156062297(+) AAACCC/TCGTCT 1 -- int10--------
    rs1498565541,2
    --156062439(+) CACTCC/TGGCTC 1 -- int10--------
    rs99192561,2
    C,F,A,H,--156062532(+) TCCCCG/ATTGCC 1 -- int122Minor allele frequency- A:0.50NS EA NA WA CSA 2345
    rs1444283801,2
    --156062597(+) CCTGCA/CCACCT 1 -- int10--------
    rs1874067461,2
    --156062685(+) TCTTTC/TTTTTT 1 -- int10--------
    rs1903939091,2
    --156062748(+) GATCTC/TGGCTC 1 -- int10--------
    rs1826036531,2
    --156062883(+) ACCATA/GTTGGC 1 -- int10--------
    rs1869740031,2
    --156062939(+) CCCCCA/C/GCAAAG 1 -- int10--------
    rs1922851511,2
    --156063034(+) ATTCCC/GTGACC 1 -- int10--------
    rs1394836831,2
    --156063085(+) TTATAA/TGTCAA 1 -- int10--------
    rs1406589431,2
    --156063090(+) TGTCAA/GTTTTT 1 -- int10--------
    rs1451132391,2
    --156063289(+) ACAGGG/TTTTCA 1 -- int10--------
    rs765293461,2
    --156063412(+) TTTTCC/GTAGAA 1 -- int12Minor allele frequency- G:0.11CSA WA 120
    rs1475986521,2
    --156063473(+) GTAACA/TGTATG 1 -- int10--------
    rs1167117421,2
    F,--156063482(+) TGTTTA/GCACTT 1 -- int11Minor allele frequency- G:0.03WA 118
    rs1404996771,2
    --156063496(+) TTTCCC/GCAGTA 1 -- int10--------
    rs120713561,2
    H--156063563(+) ACCCAG/ACACAA 1 -- int14Minor allele frequency- A:0.00NS EA 412
    rs1887829751,2
    --156063607(+) ATTGTG/TTATGC 1 -- int10--------
    rs107371701,2
    C,F,A,H,--156063880(+) AACTCA/CATAGT 1 -- int138Minor allele frequency- C:0.09NS EA NA WA CSA 3339
    rs1511979131,2
    --156064172(+) TCACCC/GAGGCT 1 -- int10--------
    rs19620651,2
    C,F,A,H,--156064212(+) GCAACT/CTCTGC 1 -- int17Minor allele frequency- C:0.43NA EA WA 182
    rs1503817481,2
    --156064288(+) CCATGC/TCTGGC 1 -- int10--------
    rs1932244321,2
    --156064330(+) TTACCA/GTATTG 1 -- int10--------
    rs1843909411,2
    --156064411(+) CTGGGA/TTTACA 1 -- int10--------
    rs2005517721,2
    --156064561(+) CTTTC-/TTTTTT 1 -- int10--------
    rs1405552161,2
    --156064637(+) CCTCCA/GCCTCC 1 -- int10--------
    rs1888762211,2
    --156064840(+) CCCAAA/GTAGCT 1 -- int10--------
    rs579575041,2
    F,--156064873(+) ATGCCC/TGGCTA 1 -- int11Minor allele frequency- T:0.07WA 118
    rs1456895431,2
    --156064909(+) GAGATA/GTGGTT 1 -- int10--------
    rs1917873151,2
    --156065076(+) TCGCTC/TTCCAT 1 -- int10--------
    rs1839693331,2
    --156065121(+) TAGGAA/GGCATT 1 -- int10--------
    rs1896112051,2
    --156065129(+) ATTCAA/GTAAAA 1 -- int10--------
    rs1808854591,2
    --156065223(+) TTCCTC/TTTCTC 1 -- int10--------
    rs1859793011,2
    --156065226(+) CTCTTC/TTCAAG 1 -- int10--------
    rs66916591,2
    C,F,A,--156065345(+) GTTTCA/GCCAGG 1 -- int14Minor allele frequency- G:0.43NA WA CSA 7
    rs1904564521,2
    --156065394(+) CCACCC/TGCCTC 1 -- int10--------
    rs1823326171,2
    --156065434(+) TGAGCC/TACTGC 1 -- int10--------
    rs1433252461,2
    --156065442(+) TGCGCC/GCGGTG 1 -- int10--------
    rs1862125501,2
    --156065444(+) CGCCCA/GGTGTC 1 -- int10--------
    rs1906253451,2
    --156065757(+) GAGGCA/GTGATC 1 -- int10--------
    rs1828172001,2
    --156065833(+) GCTGAA/GTCTAG 1 -- int10--------
    rs1483570781,2
    --156065835(+) TGAGTC/TTAGTC 1 -- int10--------
    rs1415653221,2
    --156066007(+) CCTTCC/TGTTTC 1 -- int10--------
    rs1170098191,2
    C,F,--156066030(+) CACACT/CTGCTT 1 -- int11Minor allele frequency- C:0.02EA 120
    rs1509135011,2
    --156066124(+) TACCGC/TACATC 1 -- int10--------
    rs1394418781,2
    --156066165(+) AGCTAA/GTAGTA 1 -- int10--------
    rs1434647851,2
    --156066267(+) TGTTGG/TTGATT 1 -- int10--------
    rs1158032241,2
    F,--156066306(+) TTCCTC/TAGGCA 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1857454581,2
    --156066412(+) AGATGA/GAAGCT 1 -- int10--------
    rs1471410111,2
    --156066422(+) TGTCTA/TTGGCA 1 -- int10--------
    rs1403572301,2
    --156066461(+) AATGAA/GTGAAT 1 -- int10--------
    rs741164811,2
    C,--156066553(+) AGAAGG/TTGGGG 1 -- int12Minor allele frequency- T:0.10WA 120
    rs1912439181,2
    --156066858(+) CTGCTA/GTTCTC 1 -- int10--------
    rs1826543251,2
    --156066886(+) GAGGCA/GGTGAA 1 -- int10--------
    rs67006931,2
    C,F,A,H,--156066966(+) ATCAGC/TGAGAG 1 -- int131Minor allele frequency- T:0.49NS EA NA WA CSA 3197
    rs1496966581,2
    --156067001(+) GACAAC/TGGTAG 1 -- int10--------
    rs1877356901,2
    --156067060(+) TGATTC/TACCAC 1 -- int10--------
    rs1159940861,2
    --156067248(+) CACGCC/TGTACA 1 -- int11Minor allele frequency- T:0.01WA 118
    rs1455502371,2
    --156067324(+) TATCAA/GAGAGG 1 -- int10--------
    rs1931351381,2
    --156067347(+) TGGCCC/TACGGT 1 -- int10--------
    rs1831616831,2
    --156067480(+) GGTTCA/TGACCC 1 -- int10--------
    rs1875227851,2
    --156067556(+) GATACA/GGAGGA 1 -- int10--------
    rs1177120911,2
    --156067634(+) CCAAGC/TCCAAG 1 -- int11Minor allele frequency- T:0.01EA 120
    rs1142873241,2
    --156067690(+) CCACCG/ATTTTC 1 -- int11Minor allele frequency- A:0.01WA 118
    rs1132077411,2
    C,--156067743(+) CGTGCGT/-GTGTG 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1484648931,2
    --156067818(+) TATAGC/TCTGGG 1 -- int10--------
    rs1153048931,2
    --156067866(+) TTCTTG/ATTCAG 1 -- int11Minor allele frequency- A:0.01WA 118
    rs1168403121,2
    F,--156067911(+) TATGCC/TCATCT 1 -- int11Minor allele frequency- T:0.09WA 118
    rs759763881,2
    C--156068288(+) GGCCCG/TACTGT 1 -- int10--------
    rs1426831281,2
    --156068300(+) TACCAC/TGTTAC 1 -- int10--------
    rs1465314891,2
    --156068340(+) AAAGAA/CTTCTC 1 -- int10--------
    rs1411170801,2
    --156068354(+) TATGTA/GTGTTA 1 -- int10--------
    rs1456191011,2
    --156068624(+) CCACCC/TCCATC 1 -- int10--------
    rs741164821,2
    C,--156068707(+) CAGCAG/CGTTCC 1 -- int12Minor allele frequency- C:0.10WA 120
    rs1465524741,2
    --156068908(+) CTGCCC/TCACTG 1 -- int10--------
    rs1409764261,2
    --156068936(+) TTTGAA/CGGAGA 1 -- int10--------
    rs115841301,2
    H--156068950(+) CCCTGG/CAGCCC 1 -- int14Minor allele frequency- C:0.00NS EA 416
    rs1920427681,2
    --156069362(+) CAATAC/GAGTAA 1 -- int10--------
    rs1166125971,2
    F,--156069414(+) TCACAC/TCGTAA 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1841928721,2
    --156069493(+) CATGGC/TGAAAA 1 -- int10--------
    rs1895755401,2
    --156069523(+) AATACA/GAAAAT 1 -- int10--------
    rs1502271001,2
    --156069537(+) CTGGGC/TGTGCT 1 -- int10--------
    rs1388829371,2
    --156069554(+) CACCTA/GTAATC 1 -- int10--------
    rs1483248441,2
    --156069679(+) AAAAA-/GAAAAA 1 -- int10--------
    rs1928495041,2
    --156069723(+) AAAATA/TTCCAA 1 -- int10--------
    rs1494143911,2
    --156069870(+) CAGGAA/CCCCTC 1 -- int10--------
    rs1159631851,2
    --156069899(+) CTGCAC/TTTTGG 1 -- int11Minor allele frequency- T:0.01WA 118
    rs1471127881,2
    --156069978(+) TCTATA/CAAATG 1 -- int10--------
    rs760864371,2
    F,--156070244(+) AATGAG/ACCAAG 1 -- int11Minor allele frequency- A:0.10WA 118
    rs1844957741,2
    --156070322(+) TATTGC/TTATTG 1 -- int10--------
    rs168371621,2
    C,--156070537(+) CTCTAC/TTCAAA 1 -- int13Minor allele frequency- T:0.01NA 134
    rs1151020601,2
    --156070618(+) TCTACC/ACTTGA 1 -- int11Minor allele frequency- A:0.01WA 118
    rs112644361,2
    C,H--156070888(+) CATTAC/AAAGTC 1 -- int16Minor allele frequency- A:0.00NS EA NA 420
    rs1441048831,2
    --156070892(+) ACAAGA/TCAGGT 1 -- int10--------
    rs1471310001,2
    --156070956(+) TCTTCC/TGGAAA 1 -- int10--------
    rs112644371,2
    C,A,--156071071(+) AGCCCC/TGCAGT 1 -- int14Minor allele frequency- T:0.36NA WA EA 360
    rs796798351,2
    C--156071208(+) AGCCCA/CTGAAT 1 -- int10--------
    rs1403182301,2
    --156071416(+) AAGGAC/TGGAAG 1 -- int10--------
    rs1893811661,2
    --156071454(+) GGGAGA/GGAGGG 1 -- int10--------
    rs1820907771,2
    --156071763(+) AGTTAC/TGGATG 1 -- int10--------
    rs1411908731,2
    --156071805(+) GGGGTC/TGTCTT 1 -- int10--------
    rs359973541,2
    C,F,--156071806(+) GGGTCG/ATCTTC 1 -- int19Minor allele frequency- A:0.14NA WA CSA EA 370
    rs125651301,2
    C,F,H,--156071994(+) TACACG/AGGGGC 1 -- int115Minor allele frequency- A:0.42NS EA NA WA 970
    rs1507564111,2
    --156072160(+) TTGACA/GTACCG 1 -- int10--------
    rs1391462801,2
    --156072204(+) TCAGTC/TCTGGT 1 -- int10--------
    rs716306141,2
    C,F,--156072217(+) TGTCAC/TCTCTG 1 -- int13Minor allele frequency- T:0.04NA 124
    rs1499188681,2
    --156072231(+) AGGAGC/TTGTGA 1 -- int10--------
    rs1460027371,2
    --156072310(+) AACCCC/TTCCAT 1 -- int10--------
    rs1399553221,2
    --156072356(+) GAGGCA/GTTCCA 1 -- int10--------
    rs1435083921,2
    --156072414(+) TCATCA/TCCATT 1 -- int10--------
    rs1179777651,2
    --156072457(+) CAGCCG/AGCTCT 1 -- int11Minor allele frequency- A:0.01EA 120
    rs1864126911,2
    --156072584(+) TTCCAA/TGTGTA 1 -- int10--------
    rs1893069241,2
    --156072663(+) CCAAGG/TGTCCC 1 -- int10--------
    rs1162102851,2
    F,--156072818(+) CTTCCG/ATCTCT 1 -- int11Minor allele frequency- A:0.02WA 118
    rs795895511,2
    F,--156072838(+) TCATTT/CCACAG 1 -- int11Minor allele frequency- C:0.03WA 118
    rs1816107301,2
    --156072911(+) TTTGTC/TCCTGC 1 -- int10--------
    rs1465410531,2
    --156073029(+) CCTACC/TAGTCC 1 -- int10--------
    rs1491479461,2
    --156073081(+) GCTGAA/GGGTGA 1 -- int10--------
    rs1868537081,2
    C,--156073346(+) GATGGA/GANNNN 1 -- int10--------
    rs1912407611,2
    --156073595(+) TCCCTC/TAACGC 1 -- int10--------
    rs1832050461,2
    --156073718(+) TTCCCC/TGAACC 1 -- int10--------
    rs1860642881,2
    --156073936(+) ATATTG/TCCAGC 1 -- int10--------
    rs1512858591,2
    --156074007(+) TAGCTC/TAGCCT 1 -- int10--------
    rs112644381,2
    C,F,A,--156074020(+) CAGCTG/CGGGTG 1 -- int17Minor allele frequency- C:0.50WA NA CSA EA 365
    rs1910062641,2
    --156074200(+) AGTTGA/CCCCCT 1 -- int10--------
    rs1834164371,2
    --156074257(+)