Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



PINK1 Gene

protein-coding   GIFtS: 67
GCID: GC01P020959

PTEN Induced Putative Kinase 1

(Previous name: Parkinson disease (autosomal recessive) 6)
(Previous symbol: PARK6)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

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

TryGeneCards Plus

Aliases
PTEN Induced Putative Kinase 11 2     Parkinson Disease (Autosomal Recessive) 61
PARK61 2 5     Protein Kinase BRPK2
BRPK2 3     Serine/Threonine-Protein Kinase PINK1, Mitochondrial2
PTEN-Induced Putative Kinase Protein 12 3     EC 2.7.11.13

External Ids:    HGNC: 145811   Entrez Gene: 650182   Ensembl: ENSG000001588287   OMIM: 6083095   UniProtKB: Q9BXM73   

Export aliases for PINK1 gene to outside databases

Previous GC identifers: GC01P020530 GC01P019995 GC01P020105 GC01P020429 GC01P020705 GC01P020832 GC01P019206


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

TryGeneCards Plus

Entrez Gene summary for PINK1 Gene:
This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells
from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive
early-onset Parkinson disease. (provided by RefSeq, Jul 2008)

GeneCards Summary for PINK1 Gene:
PINK1 (PTEN induced putative kinase 1) is a protein-coding gene. Diseases associated with PINK1 include parkinson disease 6, early onset, and pink1 type of young-onset parkinson disease. GO annotations related to this gene include protein serine/threonine kinase activity and ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7
Function: Protects against mitochondrial dysfunction during cellular stress, potentially by phosphorylating
mitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy).
Targets PARK2 to dysfunctional depolarized mitochondria through the phosphorylation of MFN2

Gene Wiki entry for PINK1 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)
About This Section

TryGeneCards Plus
RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the PINK1 gene promoter:
         NF-1/L   NF-1   LHX3b/Lhx3b   AP-1   SREBP-1c   ATF-2   SREBP-1b   SREBP-1a   LHX3a/Lhx3a   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for PINK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PINK1


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

Entrez Gene cytogenetic band: 1p36   Ensembl cytogenetic band:  1p36.12   HGNC cytogenetic band: 1p36.12

PINK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PINK1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P020959:  view genomic region     (about GC identifiers)

Start:
20,959,948 bp from pter      End:
20,978,004 bp from pter
Size:
18,057 bases      Orientation:
plus strand

(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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

TryGeneCards Plus

UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase PINK1, mitochondrial precursor  
Size: 581 amino acids; 62769 Da
Cofactor: Magnesium
Subunit: Interacts with PARK2. Interacts with FBXO7
Secondary accessions: Q8N6T9 Q8NBU3 Q96DE4
Alternative splicing: 2 isoforms:  Q9BXM7-1   Q9BXM7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PINK1: NX_Q9BXM7

Explore proteomics data for PINK1 at MOPED

Post-translational modifications: 

  • Autophosphorylation at Ser-228 and Ser-402 is essential for Parkin/PARK2 recruitment to depolarized mitochondria1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PINK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115785.1  
    ENSEMBL proteins: 
     ENSP00000364204  

    PINK1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for PINK1
    OriGene Custom MassSpec
    OriGene Custom Protein Services for PINK1
    GenScript Custom Purified and Recombinant Proteins Services for PINK1
    Novus Biologicals PINK1 Proteins
    Novus Biologicals PINK1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for PINK1
    Cloud-Clone Corp. Proteins for PINK1

    PINK1 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of PINK1
    R&D Systems Antibodies for PINK1
    Cell Signaling Technology (CST) Antibodies for PINK1 
    OriGene Antibodies for PINK1
    OriGene Custom Antibody Services for PINK1
    Novus Biologicals PINK1 Antibodies
    Abcam antibodies for PINK1
    Cloud-Clone Corp. Antibodies for PINK1
    ThermoFisher Antibodies for PINK1
    LSBio Antibodies in human, mouse, rat for PINK1

    PINK1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for PINK1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for PINK1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for PINK1
    Cloud-Clone Corp. CLIAs for PINK1


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

    TryGeneCards Plus
    HGNC Gene Families:
    PARK: Parkinson disease

    IUPHAR Guide to PHARMACOLOGY protein family classification: PTEN induced putative kinase 1
    NKF2 family

    3 InterPro protein domains:
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_dom

    Graphical View of Domain Structure for InterPro Entry Q9BXM7

    ProtoNet protein and cluster: Q9BXM7

    UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7
    Similarity: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family
    Similarity: Contains 1 protein kinase domain


    PINK1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PINK1_HUMAN, Q9BXM7
    Function: Protects against mitochondrial dysfunction during cellular stress, potentially by phosphorylating
    mitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy).
    Targets PARK2 to dysfunctional depolarized mitochondria through the phosphorylation of MFN2
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

         Enzyme Number (IUBMB): EC 2.7.11.11

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA14607334
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IDA14607334
    GO:0004713protein tyrosine kinase activity ----
    GO:0005515protein binding IPI--
         
    PINK1 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for PINK1:
     Decreased viability  Increased 8N DNA content  Increased cell size  Increased cell spreading 
     Synthetic lethal with Ras  Wnt reporter downregulated 

         9 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Pink1):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
     immune system  nervous system  no phenotypic analysis  taste/olfaction 

    PINK1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PINK1: Pink1tm1Zhzh Pink1tm1Vbae Pink1tm1Hlw Pink1tm1Shn Pink1tm1.1Wrst Pink1tm1Hbu
                                                         Pink1tm1Ncw

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PINK1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PINK1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PINK1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PINK1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat PINK1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate PINK1:
    hsa-miR-222* hsa-miR-532-3p
    SwitchGear 3'UTR luciferase reporter plasmidPINK1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for PINK1
    Predesigned siRNA for gene silencing in human, mouse, rat PINK1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for PINK1

    Clone
    Products:
         
    OriGene clones in human, mouse for PINK1 (see all 7)
    OriGene ORF clones in mouse, rat for PINK1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PINK1 (NM_003122)
    Sino Biological Human cDNA Clone for PINK1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PINK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PINK1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for PINK1
    Browse ESI BIO Cell Lines and PureStem Progenitors for PINK1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PINK1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    PINK1_HUMAN, Q9BXM7: Mitochondrion outer membrane; Single-pass membrane protein. Cytoplasm, cytosol
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    mitochondrion5

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA15087508
    GO:0005741mitochondrial outer membrane IEA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005829cytosol IDA19880420
    GO:0016021integral component of membrane IEA--

    PINK1 for ontologies           About GeneDecksing


    (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).
    About This Section

    TryGeneCards Plus

    SuperPaths for PINK1 About    
    See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Parkinson's disease0.57
    2CDK-mediated phosphorylation and removal of Cdc6
    Parkinson's Disease Pathway0.31
    3Parkinsons Disease Pathway
    Parkinsons Disease Pathway
    4Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for PINK1
        Parkinson's Disease Pathway

    1 Cell Signaling Technology (CST) Pathway for PINK1
        Neuroscience

    1 BioSystems Pathway for PINK1
        Parkinsons Disease Pathway



    1 Kegg Pathway  (Kegg details for PINK1):
        Parkinson's disease


    PINK1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PINK1: 
              Parkinson's Disease in human mouse rat
              Autophagy in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PINK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for PINK1 (Q9BXM71, 2, 3 ENSP000003642044) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TOMM20Q153882, 3, ENSP000003555664MINT-7557121 MINT-7557138 I2D: score=1 STRING: ENSP00000355566
    PARK2O602602, 3, ENSP000003558654MINT-7557138 I2D: score=2 STRING: ENSP00000355865
    MAP1LC3BQ9GZQ81, 2, 3, ENSP000002686074EBI-2846068,EBI-373144 MINT-7557195 MINT-7557109 MINT-7557173 I2D: score=1 STRING: ENSP00000268607
    PTENP604843, ENSP000003610214I2D: score=1 STRING: ENSP00000361021
    RHOT1Q8IXI21, ENSP000003511324EBI-2846068,EBI-1396430 STRING: ENSP00000351132
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000422mitochondrion degradation IMP--
    GO:0006468protein phosphorylation IDA14607334
    GO:0006950response to stress IDA15087508
    GO:0008219cell death IEA--
    GO:0016567protein ubiquitination IMP--

    PINK1 for ontologies           About GeneDecksing



    (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)
    About This Section

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

    Browse Tocris compounds for PINK1

    3 HMDB Compounds for PINK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--

    6 Novoseek inferred chemical compound relationships for PINK1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    levodopa 53.4 2 18307263 (1), 16179113 (1)
    threonine 49.5 18 19087301 (2), 16672981 (1), 19270741 (1), 17000703 (1) (see all 12)
    dopamine 41.2 7 19895857 (1), 17563363 (1), 19694908 (1), 17713119 (1) (see all 8)
    serine 35.8 17 19087301 (2), 16672981 (1), 19270741 (1), 17000703 (1) (see all 11)
    atp 17.2 6 19546216 (1), 16966503 (1), 19242547 (1)
    methionine 0 1 16179113 (1)



    PINK1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for PINK1 gene: 
    NM_032409.2  

    Unigene Cluster for PINK1:

    PTEN induced putative kinase 1
    Hs.389171  [show with all ESTs]
    Unigene Representative Sequence: AB053323
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000321556(uc001bdm.3) ENST00000492302 ENST00000400490(uc001bdn.3)


    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PINK1 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate PINK1:
    hsa-miR-222* hsa-miR-532-3p
    SwitchGear 3'UTR luciferase reporter plasmidPINK1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for PINK1
    Predesigned siRNA for gene silencing in human, mouse, rat PINK1
    Clone
    Products:
         
    OriGene clones in human, mouse for PINK1 (see all 7)
    OriGene ORF clones in mouse, rat for PINK1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PINK1 (NM_003122)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PINK1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PINK1
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for PINK1
    OriGene qSTAR qPCR primer pairs in human, mouse for PINK1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PINK1
      QuantiTect SYBR Green Assays in human, mouse, rat PINK1
      QuantiFast Probe-based Assays in human, mouse, rat PINK1

    Additional mRNA sequence: 

    AB053323.1 AF316873.1 BC009534.1 BC028215.1 

    16 DOTS entries:

    DT.95148807  DT.99990789  DT.445984  DT.100824921  DT.100801355  DT.100824919  DT.95226113  DT.100824908 
    DT.80100175  DT.86836539  DT.100824911  DT.100824917  DT.40191712  DT.95148814  DT.95148815  DT.86853366 

    Selected AceView cDNA sequences (see all 368):

    BU751789 AA879128 AI424391 BG055986 CD558848 BM352779 CB153545 BF448942 
    BU625739 AJ709870 CR601045 CB215266 CD679228 BF196557 N75032 CB118069 
    CB122562 BQ672284 AI536608 CF131513 BE531293 AA304888 AA551902 AL042585 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PINK1    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b
    SP1:              -                 -                                 
    SP2:                                -                                 
    SP3:                                                                  


    ECgene alternative splicing isoforms for PINK1

    (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)
    About This Section

    TryGeneCards Plus

    PINK1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCCTGGGC
    PINK1 Expression
    About this image


    PINK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Kidney (Urinary System)
     
     Thyroid (Endocrine System)
    PINK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PINK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.389171

    UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7
    Tissue specificity: Highly expressed in heart, skeletal muscle and testis, and at lower levels in brain, placenta,
    liver, kidney, pancreas, prostate, ovary and small intestine. Present in the embryonic testis from an early stage
    of development

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PINK1: 
              Parkinson's Disease in human mouse rat
              Autophagy in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for PINK1
    OriGene qSTAR qPCR primer pairs in human, mouse for PINK1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PINK1
    QuantiTect SYBR Green Assays in human, mouse, rat PINK1
    QuantiFast Probe-based Assays in human, mouse, rat PINK1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PINK1

    (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

    TryGeneCards Plus

    This gene was present in the common ancestor of animals.

    Orthologs for PINK1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pink11 , 5 PTEN induced putative kinase 11, 5 81.98(n)1
    81.69(a)1
      4 (70.14 cM)5
    689431  NM_026880.21  NP_081156.21 
     1383134095 
    chicken
    (Gallus gallus)
    Aves PINK11 PTEN induced putative kinase 1 66.08(n)
    64.05(a)
      425370  XM_423139.4  XP_423139.3 
    zebrafish
    (Danio rerio)
    Actinopterygii pink11 PTEN induced putative kinase 1 58.32(n)
    57.48(a)
      494085  NM_001008628.1  NP_001008628.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG45233 protein kinase 43(a)   6C6   --
    worm
    (Caenorhabditis elegans)
    Secernentea EEED8.93
    pink-11
    pink-11 31(a)3
    43.7(n)1
    35.5(a)1
      II(5393440-5395652)3
    1739181  NM_062616.41  NP_495017.11 


    ENSEMBL Gene Tree for PINK1 (if available)
    TreeFam Gene Tree for PINK1 (if available)

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

    TryGeneCards Plus
      --

    (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)
    About This Section

    TryGeneCards Plus

    Selected SNPs for PINK1 (see all 714)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0189944
    Parkinson disease 6 (PARK6)4--see VAR_0189942 G D mis40--------
    VAR_0465754
    Parkinson disease 6 (PARK6)4--see VAR_0465752 A P mis40--------
    VAR_0465774
    Parkinson disease 6 (PARK6)4--see VAR_0465772 P L mis40--------
    VAR_0465784
    Parkinson disease 6 (PARK6)4--see VAR_0465782 A D mis40--------
    VAR_0465964
    Parkinson disease 6 (PARK6)4--see VAR_0465962 C R mis40--------
    VAR_0465814
    Parkinson disease 6 (PARK6)4--see VAR_0465812 E K mis40--------
    VAR_0465994
    Parkinson disease 6 (PARK6)4--see VAR_0465992 E G mis40--------
    VAR_0465894
    Parkinson disease 6 (PARK6)4--see VAR_0465892 T M mis40--------
    VAR_0465844
    Parkinson disease 6 (PARK6)4--see VAR_0465842 L V mis40--------
    VAR_0627754
    Parkinson disease 6 (PARK6)4--see VAR_0627752 L P mis40--------
    VAR_0410134
    A glioblastoma multiforme sample4--see VAR_0410132 P L mis40--------
    VAR_0643444
    Parkinson disease 6 (PARK6)4--see VAR_0643442 Q P mis40--------
    VAR_0627774
    Parkinson disease 6 (PARK6)4--see VAR_0627772 P L mis40--------
    VAR_0627784
    Parkinson disease 6 (PARK6)4--see VAR_0627782 R Q mis40--------
    VAR_0465854
    Parkinson disease 6 (PARK6)4--see VAR_0465852 H Q mis40--------
    VAR_0627764
    Parkinson disease 6 (PARK6)4--see VAR_0627762 G A mis40--------
    VAR_0465934
    Parkinson disease 6 (PARK6)4--see VAR_0465932 L P mis40--------
    VAR_0627744
    Parkinson disease 6 (PARK6)4--see VAR_0627742 A T mis40--------
    VAR_0465684
    Parkinson disease 6 (PARK6)4--see VAR_0465682 C F mis40--------
    VAR_0627734
    Parkinson disease 6 (PARK6)4--see VAR_0627732 C G mis40--------
    VAR_0466074
    Parkinson disease 6 (PARK6)4--see VAR_0466072 L P mis40--------
    VAR_0627794
    Parkinson disease 6 (PARK6)4--see VAR_0627792 G V mis40--------
    VAR_0466054
    Parkinson disease 6 (PARK6)4--see VAR_0466052 R H mis40--------
    VAR_0465874
    Parkinson disease 6 (PARK6)4--see VAR_0465872 R H mis40--------
    rs743153601,2
    Cpathogenic121175390(+) CTTGGA/CCATCA 2 D A mis10--------
    rs743153571,2
    Cpathogenic121177238(+) CGAGCC/TGAGTG 2 R * stg10--------
    rs289402841,2
    Cpathogenic121181812(+) CCTCAA/CCCCAA 2 Q H mis1 ese30--------
    rs743153581,2
    Cpathogenic121181835(+) TCTCCG/ACGCCT 2 /H /R mis11Minor allele frequency- A:0.00EU 1323
    rs743153551,2
    Cpathogenic121181925(+) CCTGGA/GCCATG 2 D G mis10--------
    rs743153591,2
    Cpathogenic121181937(+) CCGGAC/TGCTGT 2 T M mis10--------
    rs289402851,2
    Cpathogenic121182926(+) GCTGCC/TGGAAG 2 P L mis1 ese30--------
    rs743153561,2
    Cpathogenic121186340(+) GCCTGA/GGCAGT 2 * W stg10--------
    rs455394321,2
    Cpathogenic121186395(+) ACGGCC/TAGGGC 2 Q * stg11Minor allele frequency- T:0.00NA 4548
    rs743153611,2
    Cother121186320(+) TTGACC/TACAGC 2 H Y mis10--------
    rs561372321,2
    C--20962364(+) AAAAA-/ATA   
       AAAAA
    TTCTG
    1 -- int11Minor allele frequency- ATAAAAAA:0.00NA 2
    rs601277381,2
    C--20962707(+) ATATAATATA/
            
    TGTAT
    1 -- int11Minor allele frequency- -:0.00NA 2
    rs801857861,2
    C--20973136(+) TAAAT-/AAAT  
      
    /AAATT
    TAATT
    1 -- int10--------
    rs563607291,2
    C--20973143(+) ATTAATTAA/-  
            
    ATTTT
    1 -- int11Minor allele frequency- -:0.00NA 2
    rs710105881,2
    C--20973356(+) ATTTC-/TTTA  
            
    TTTAT
    1 -- int11Minor allele frequency- TTTA:0.00NA 2
    rs710105891,2
    C--20973960(+) TTTTTT/-GAGAC 1 -- int11Minor allele frequency- -:0.00NA 2
    rs1116603251,2
    C,F--20974054(+) TGCCTG/ATCGGG 1 -- int11Minor allele frequency- A:0.00CSA 1
    rs360941301,2
    C--20974311(+) TAACC-/AT/TA 
            
    AATTC
    1 -- int11NA 2
    rs715857761,2
    C--20976258(+) GTCTCAAA/-AAAAA 1 -- int11Minor allele frequency- -:0.50NA 2
    rs30779061,2
    C--20977713(+) TAAGT-/AAGT  
            
    GTGGG
    1 -- ut311Minor allele frequency- AAGT:0.02NA 46
    rs23203921,2
    C,F,A,H--21168817(+) CAGCCT/CCAACC 1 -- us2k113Minor allele frequency- C:0.18NA WA CSA EA 263
    rs1828954811,2
    --21168864(+) AAGTAA/GCTGGG 1 -- us2k10--------
    rs1875336021,2
    --21169141(+) TCTTTC/GCCTTA 1 -- us2k10--------
    rs1920623561,2
    --21169287(+) ATAAAC/TATGAT 1 -- us2k10--------
    rs361169821,2
    C--21169350(+) ACCAG-/CACACAC 1 -- us2k10--------
    rs1995081491,2
    --21169363(+) CACAC-/AGTGCAA 1 -- us2k10--------
    rs124073691,2
    C,A,H--21169384(+) ACCCCG/ATCTTG 1 -- us2k15Minor allele frequency- A:0.13NA WA EA 362
    rs1461570121,2
    --21169458(+) CACTCC/TGTCGC 1 -- us2k10--------
    rs1841192571,2
    --21169505(+) ACAACC/TTCCAC 1 -- us2k10--------
    rs1487662841,2
    C--21169524(+) TTCAAA/GCGATT 1 -- us2k10--------
    rs109168391,2
    C,F--21169639(+) TCATGA/GACTTC 1 -- us2k1 tfbs38Minor allele frequency- G:0.19NA WA CSA EA 367
    rs1424188381,2
    --21169646(+) CTTCCA/GGACTC 1 -- us2k10--------
    rs785137541,2
    F--21169740(+) GATTAA/GCCAGC 1 -- us2k11Minor allele frequency- G:0.01WA 118
    rs1512730731,2
    --21169747(+) CAGCTG/TTTAGG 1 -- us2k10--------
    rs1878996461,2
    --21169750(+) CTTTTA/GGGGAA 1 -- us2k10--------
    rs801185001,2
    --21169757(+) GGAAGG/TCCTCT 1 -- us2k10--------
    rs1927644921,2
    --21169758(+) GAAGGC/TCTCTA 1 -- us2k10--------
    rs1841745141,2
    --21169818(+) TAAATA/CCTGCC 1 -- us2k10--------
    rs1906389221,2
    --21169828(+) CCTTAC/GGCAGA 1 -- us2k10--------
    rs1500123281,2
    C--21169889(+) CACATC/TCCTTT 1 -- us2k10--------
    rs120395771,2
    C--21169908(+) atataG/Agccct 1 -- us2k12Minor allele frequency- A:0.00NA 4
    rs1476554151,2
    --21169964(+) GCCGCC/TGAAGC 1 -- us2k10--------
    rs1931455181,2
    --21170045(+) GCTGCC/TGCTGA 1 -- us2k10--------
    rs1423536671,2
    C--21170052(+) CTGAAA/GAAGGG 1 -- us2k10--------
    rs1460915081,2
    --21170111(+) TGGACC/TCCTGG 1 -- us2k10--------
    rs1144208051,2
    F--21170157(+) TCGTGC/TGTGTG 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs1389671041,2
    C--21170188(+) CCTATA/GCCATT 1 -- us2k10--------
    rs109168401,2
    C,F,A,H--21170214(+) CTTTGG/AGCAAG 1 -- us2k121Minor allele frequency- A:0.35NS EA NA WA CSA 2386
    rs115859581,2
    H--21170239(+) cctcaA/Gcacac 1 -- us2k1 tfbs30--------
    rs120373791,2
    C,F,H--21170539(+) ATCAGT/CTTCCC 1 -- us2k1 trp314Minor allele frequency- C:0.15NS EA NA 1570
    rs455303401,2
    C,F--21171023(+) AGCCTC/TCCTAA 2 L syn13Minor allele frequency- T:0.11WA NA EA 358
    rs2020487631,2
    C--21171052(+) CCAGTC/TGGTGG 2 S L mis10--------
    rs1488714091,2,,4
    C--21171178(+) AAAACA/TGGCGG 2 Q L mis10--------
    rs1174388271,2
    C,F--21171235(+) GGCCGG/AGTCCT 1 -- int11Minor allele frequency- A:0.05EA 120
    rs1435763531,2
    C--21171456(+) TGCCGA/GTTACA 1 -- int10--------
    rs75412341,2
    C--21171721(+) AACGGC/TGAGAA 1 -- int16Minor allele frequency- T:0.19NA CSA WA EA 363
    rs75179091,2
    C,F,A,H--21171797(+) TTAGGC/GTTTTT 1 -- int115Minor allele frequency- G:0.41NA EA WA CSA 736
    rs1480361361,2
    C--21171861(+) AGGGTC/TCTCCA 1 -- int10--------
    rs1441159841,2
    C--21171900(+) AGGCA-/GGGTTT 1 -- int10--------
    rs1416567761,2
    --21172068(+) TTCCTA/GGGGGT 1 -- int10--------
    rs120970971,2
    H--21172087(+) ACTCAC/TTAAAT 1 -- int14Minor allele frequency- T:0.00NS EA 404
    rs357313361,2
    C,F,H--21172344(+) GATGGG/AAAATT 1 -- int118Minor allele frequency- A:0.17NS EA NA CSA WA 2341
    rs1848711761,2
    --21172378(+) AGAGGC/TTTTTT 1 -- int10--------
    rs1891974341,2
    --21172408(+) TCCTAA/CACTTA 1 -- int10--------
    rs1815268541,2
    --21172452(+) CTCCTA/GTGCCT 1 -- int10--------
    rs1857799051,2
    --21172559(+) TGAGGC/TGGGCG 1 -- int10--------
    rs66912471,2
    C,F,A--21172643(+) ttaccC/Agggcg 1 -- int15Minor allele frequency- A:0.33WA NA EA 128
    rs1486450281,2
    --21172700(+) GAGAAC/TTCCTT 1 -- int10--------
    rs120216131,2
    C,F--21172743(+) GATCAC/TGCCAC 1 -- int14Minor allele frequency- T:0.50NA WA 8
    rs1809391871,2
    C--21172773(+) CAGAGC/GAAGAC 1 -- int10--------
    rs42581931,2
    C,A,H--21172872(+) gctcaC/Tgcctg 1 -- int18Minor allele frequency- T:0.06NA WA CSA 16
    rs1857709071,2
    --21172892(+) CACTTG/TGGGAG 1 -- int10--------
    rs11529941,2
    C,H--21172901(+) aggccG/Aaggcg 1 -- int15Minor allele frequency- A:0.00NA WA 12
    rs28742571,2
    C,H--21172942(+) atcctA/Ggctaa 1 -- int14Minor allele frequency- G:0.12NA WA 8
    rs1862009481,2
    --21172949(+) CTAACA/GTGGTG 1 -- int10--------
    rs23203931,2
    C,F,A--21173058(+) TGAACT/CCGGGA 1 -- int14Minor allele frequency- C:0.43NA CSA 7
    rs1461465241,2
    C--21173101(+) CTGCAC/TTCCAG 1 -- int10--------
    rs1387493961,2
    C--21173144(+) AAAAT-/AAA   
       AAATA
    AAAAA
    1 -- int10--------
    rs66581961,2
    C--21173150(+) aaaaaA/Taaaaa 1 -- int10--------
    rs67042771,2
    C,A--21173151(+) aaaatA/Taaaaa 1 -- int10--------
    rs1171849781,2
    C,F--21173179(+) CAGGCA/GTGGTG 1 -- int11Minor allele frequency- G:0.09EA 120
    rs23203941,2
    C,H--21173195(+) tgcctG/Ataatc 1 -- int110Minor allele frequency- A:0.21NA WA CSA EA 371
    rs1906180481,2
    --21173349(+) TTAGGA/CGGCTG 1 -- int10--------
    rs793353181,2
    C--21173500(+) GTGTAA/TATATA 1 -- int10--------
    rs1456927731,2
    C--21173501(+) GTATA-/ATATA 
            
    TATAT
    1 -- int10--------
    rs38203211,2
    C,F,H--21173620(+) TATAAG/AGGAAG 1 -- int113Minor allele frequency- A:0.34NS EA NA WA 788
    rs37381311,2
    C,F--21173654(+) GATACG/AGAGTC 1 -- int11Minor allele frequency- A:0.06WA 118
    rs1827910801,2
    C--21173788(+) ACACCC/TGGCTA 1 -- int10--------
    rs1883368271,2
    --21173871(+) GATCCA/GCCTCC 1 -- int10--------
    rs1925699061,2
    --21174253(+) ACAGCA/C/TGAGTG 1 -- int10--------
    rs1149512301,2
    F--21174307(+) GGCACG/AGCACT 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1832551591,2
    --21174480(+) TCACCA/GCTGCC 1 -- int10--------
    rs1149997741,2
    F--21174559(+) ACCTGC/TACCTC 1 -- int11Minor allele frequency- T:0.01WA 118
    rs1156897661,2
    F--21174570(+) CATCTA/TTTTCT 1 -- int11Minor allele frequency- T:0.01NA 120
    rs109168411,2
    C,F,A,H--21174589(+) TCTTGT/CACTCT 1 -- int14Minor allele frequency- C:0.07NA WA EA 364
    rs1400358261,2
    --21174622(+) GCCTCA/TTCGGG 1 -- int10--------
    rs340965831,2
    C--21174648(+) GAGAG-/AAAGAC 1 -- int11Minor allele frequency- A:0.00NA 2
    rs1147246421,2
    F--21174760(+) GGAGCC/TGTCAG 1 -- int11Minor allele frequency- T:0.02WA 118
    rs1877270161,2
    --21174798(+) CCATAA/TTCAGA 1 -- int10--------
    rs31020721,2
    C,F,A,H--21174859(-) CGTCCC/TGCAGC 1 -- int125Minor allele frequency- T:0.47NS EA NA WA CSA 2355
    rs1140639141,2
    F--21174922(+) AGAGTT/GTGAGA 1 -- int11Minor allele frequency- G:0.01WA 118
    rs22982961,2
    C,F,H--21175035(+) GACCAC/TGCCTT 1 -- int118Minor allele frequency- T:0.04EA NS NA WA 2990
    rs22982971,2
    C,F--21175063(+) CTCCCC/GTGTTT 1 -- int12Minor allele frequency- G:0.23EA NA 1528
    rs358325161,2
    C--21175063(+) CTCCCCT/-GTTTC 1 -- int11Minor allele frequency- -:0.50NA 2
    rs22982981,2
    C,F,H--21175121(+) TTCTCG/ATCACA 1 -- int137Minor allele frequency- A:0.19EA NS NA WA CSA EU 5967
    rs456042401,2,,4
    C--21175174(+) GGACAC/TGAGAC 2 T M mis11Minor allele frequency- T:0.00NA 2
    rs456081391,2
    C--21175194(+) GCTTTC/TGGCTG 2 R W mis10--------
    rs1432040841,2
    C--21175298(+) ACAAAG/CAGCAC 2 /N /K mis11Minor allele frequency- C:0.00NA 4550
    rs358024841,2,,4
    C--21175326(+) GAGGCC/TCAGGT 2 P S mis12Minor allele frequency- T:0.00NA 4
    rs1383023711,2
    C,F--21175327(+) AGGCCC/TAGGTA 2 P L mis12Minor allele frequency- T:0.00NA EU 5853
    rs1498222571,2
    C--21175339(+) CAGTGC/TACCAG 2 A V mis10--------
    rs346777171,2,,4
    C,F--21175366(+) AGCTCC/TGGGGG 2 P L mis12Minor allele frequency- T:0.00NA 4528
    rs1396499401,2
    F--21175379(+) CCTGCC/TTTCCC 2 A syn11Minor allele frequency- T:0.00NA 4520
    rs1130114361,2
    F--21175447(+) AGGAGG/ATGTTC 1 -- int11Minor allele frequency- A:0.50CSA 4
    rs1447650171,2
    C--21175465(+) GCCCAC/TCTTAG 1 -- int10--------
    rs1485611481,2
    --21175516(+) AGACAC/GATTAT 1 -- int10--------
    rs124085901,2
    C,F,H--21175582(+) AAACCA/TGAATG 1 -- int111Minor allele frequency- T:0.30NA WA CSA EA 373
    rs109168421,2
    C,F,A,H--21175806(+) GTCTTA/GGCTAC 1 -- int110Minor allele frequency- G:0.30NA WA CSA EA 371
    rs774525241,2
    C,F--21175823(+) GGCTGG/TTGGCT 1 -- int11Minor allele frequency- T:0.04EA 120
    rs106349231,2
    C--21175932(+) CAAAAAA/-CAAAC 1 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs3676228601,2
    C--21175932(+) CAAAAA/CAAAAC 1 -- int10--------
    rs1154838041,2
    F--21175963(+) AAGGTA/GGATTC 1 -- int11Minor allele frequency- G:0.02WA 118
    rs1850084911,2
    --21176020(+) AAGCTC/GCCACG 1 -- int10--------
    rs1898577891,2
    --21176051(+) TGTCAA/GCCACA 1 -- int10--------
    rs1814561971,2
    --21176061(+) ACTTTA/GAGTAA 1 -- int10--------
    rs31216791,2
    C,H--21176168(+) TTCCTC/TTAAGC 1 -- int1 trp312Minor allele frequency- T:0.22EA NA WA CSA 1637
    rs9311621,2
    C,F,A--21176200(-) GCCTCT/GGAGCT 1 -- int19Minor allele frequency- G:0.30EA NA WA 1850
    rs37381331,2
    C,F,A,H--21176235(+) ACTCTT/CGGAAG 1 -- int122Minor allele frequency- C:0.30EA NS NA WA 3802
    rs1865022661,2
    --21176260(+) GGAAAC/TTGAAG 1 -- int10--------
    rs1138503431,2
    C--21176395(+) ATTCAG/AGGCCG 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1893144051,2
    --21176428(+) TTCATA/GGTGGG 1 -- int10--------
    rs9311611,2
    C,F,A--21176564(-) GCATGT/CTTTGA 1 -- int19Minor allele frequency- C:0.33MN NA WA EA 730
    rs1476978181,2
    --21176614(+) ACAAGA/TTTGTT 1 -- int10--------
    rs1423352601,2
    C--21176730(+) TTGTCA/GTGGGG 1 -- int10--------
    rs1807693001,2
    --21176734(+) CGTGGA/GGGATG 1 -- int10--------
    rs31216801,2
    C,F,A,H--21176735(+) GTGGGG/AGATGG 1 -- int121Minor allele frequency- A:0.50NS EA WA NA 2346
    rs1151881441,2
    C,F--21176879(+) GCACCG/AATGGC 1 -- int12Minor allele frequency- A:0.04WA EA 238
    rs1123615791,2
    C--21176896(+) CAGCAC/TCCCAT 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1863625331,2
    --21176912(+) GATCAC/TCTTGG 1 -- int10--------
    rs790227001,2
    C,F--21176938(+) TGGCAT/CCTAGG 1 -- int13Minor allele frequency- C:0.07CSA WA EA 242
    rs1446502201,2
    --21177018(+) GAGTAA/GCTAGT 1 -- int10--------
    rs38190261,2
    C,F,H--21177035(+) CTGCCA/GGTTAA 1 -- int15Minor allele frequency- G:0.02EA NS 1918
    rs412650731,2
    --21177074(+) GCCAAC/TTCTAG 1 -- int10--------
    rs22759221,2
    C,F--21177101(+) TCCAGG/ATTACA 1 -- int13Minor allele frequency- A:0.07CSA WA EA 242
    rs22759231,2
    C,F--21177105(+) GGTTAC/TAGGCA 1 -- int10--------
    rs1380186281,2
    C--21177182(+) GGCAGG/TTTCCT 2 G V mis10--------
    rs1440715301,2
    C,F--21177197(+) CGAAGC/TCATCT 2 A V mis11Minor allele frequency- T:0.00NA 4504
    rs1456506431,2
    C,F--21177247(+) TGGCCT/GTGGCT 2 /V /L mis11Minor allele frequency- G:0.00NA 4462
    rs1829257961,2
    --21177352(+) CTCAGC/GACCTG 1 -- int10--------
    rs1151337791,2
    C,F--21177480(+) ACTTGC/TGTAAT 1 -- int11Minor allele frequency- T:0.01WA 118
    rs1490890421,2
    --21177550(+) ATTGAC/TTGGGG 1 -- int10--------
    rs31213941,2
    C,F,O,A,H--21177673(+) GGTGCT/CAAGAG 1 -- int112Minor allele frequency- C:0.22NA WA CSA EA 379
    rs359072071,2
    C,F--21177683(+) AAAAAA/-CAAAA 1 -- int13Minor allele frequency- -:0.33NA CSA 6
    rs1869553441,2
    --21177702(+) AGTGGC/TCTGTT 1 -- int10--------
    rs1917889041,2
    --21177941(+) AGCTAC/TGCTTT 1 -- int10--------
    rs726508461,2
    C,F--21177965(+) CCCATG/ATCCAC 1 -- int13Minor allele frequency- A:0.11WA NA EA 358
    rs1831328071,2
    C--21178004(+) TGACGC/TGCAGG 1 -- int10--------
    rs716471631,2
    C,F--21178012(+) AGGCTA/CTGACA 1 -- int14Minor allele frequency- C:0.17NA 126
    rs769177431,2
    F--21178026(+) GAGATA/GCTTGT 1 -- int11Minor allele frequency- G:0.01NA 120
    rs1881678691,2
    C--21178228(+) GAGGCA/GGGAGG 1 -- int10--------
    rs1115056721,2
    C--21178493(+) GTGACG/TGGGAG 1 -- int12Minor allele frequency- T:0.00CSA 2
    rs31020711,2
    C,F,O,H--21178804(-) ACAGCC/TGGAGC 1 -- int130Minor allele frequency- T:0.19NS EA NA WA CSA 2782
    rs1446555621,2
    --21178868(+) CCGGAC/TAGATG 1 -- int10--------
    rs1386094471,2
    --21178875(+) GATGTA/GGCAGC 1 -- int10--------
    rs1915095911,2
    C--21178890(+) ACATTA/GCCTCA 1 -- int10--------
    rs1415275361,2
    --21178987(+) TGAAGA/GCGCTT 1 -- int10--------
    rs1821420921,2
    --21178989(+) AAGGCA/GCTTAA 1 -- int10--------
    rs767957601,2
    C,F--21179016(+) CGTCTC/TCCGCC 1 -- int12Minor allele frequency- T:0.03NA EA 240
    rs782445461,2
    C,F--21179018(+) TCTCCC/TGCCTT 1 -- int11Minor allele frequency- T:0.04EA 120
    rs1879283061,2
    --21179086(+) TCCCCA/GAATGT 1 -- int10--------
    rs1923569231,2
    --21179182(+) ACACCC/GGCAAC 1 -- int10--------
    rs121394401,2
    C,F,A--21179183(+) CACCCG/TCAACC 1 -- int19Minor allele frequency- T:0.29NA WA CSA EA 369
    rs1856765471,2
    C--21179187(+) CGCAAA/CCCCAC 1 -- int10--------
    rs1461945921,2
    --21179248(+) CACCTG/TCTGGG 1 -- int10--------
    rs8790891,2
    C,F,O,A,H--21179309(+) GGAAAC/G/TGATGC 1 -- int112NA WA CSA EA 375
    rs800749401,2
    --21179355(+) CAGGTC/TGACTC 1 -- int10--------
    rs1159505901,2
    C,F--21179360(+) TGACTC/GAAGAG 1 -- int11Minor allele frequency- G:0.01WA 118
    rs1885402141,2
    --21179482(+) CATTCG/TCTTCC 1 -- int10--------
    rs1143186051,2
    C,F--21179584(+) TGAGTC/TGACTC 1 -- int11Minor allele frequency- T:0.05WA 118
    rs1415513611,2
    C--21179648(+) GGTAAC/TTTTAT 1 -- int10--------
    rs1930803631,2
    --21179660(+) AGAGGA/GGGTTT 1 -- int10--------
    rs1509107941,2
    C--21179857(+) CTGCAA/GTTGGC 1 -- int10--------
    rs1848933021,2
    --21179913(+) CAGAGC/GGAGTT 1 -- int10--------
    rs1884427201,2
    C--21179933(+) CAGAAA/GGTGGT 1 -- int10--------
    rs1809127241,2
    --21180182(+) CTCCTA/GGGCTC 1 -- int10--------
    rs1393408611,2
    --21180191(+) TCAAGC/TAATTG 1 -- int10--------
    rs8790881,2
    C,F,A--21180234(-) ggctcA/Tctcct 1 -- int16Minor allele frequency- T:0.28MN NA WA 312
    rs75502451,2
    C,F--21180282(+) AGGAAC/TGTGGT 1 -- int11Minor allele frequency- T:0.07WA 118
    rs75503191,2
    C,F,A,H--21180344(+) TTGGCC/TTGCTC 1 -- int119Minor allele frequency- T:0.29NS EA WA NA 2240
    rs1834940841,2
    --21180463(+) CCCTTC/TGTCCA 1 -- int10--------
    rs1440313611,2
    --21180464(+) CCTTCA/GTCCAA 1 -- int10--------
    rs8790871,2
    C,F--21180473(-) CCCAGA/GTGGTT 1 -- int14Minor allele frequency- G:0.01NA EA WA 360
    rs8790861,2
    C,F,A,H--21180483(-) ACACTC/TGAGAC 1 -- int114Minor allele frequency- T:0.48NA EA WA 618
    rs1472675601,2
    C--21180559(+) GGGCTC/GGCACA 1 -- int10--------
    rs75218851,2
    C,F,A--21180622(+) TGTGGT/GTTGGG 1 -- int110Minor allele frequency- G:0.29NA WA CSA EA 372
    rs1408675371,2
    --21180631(+) GGGGTC/TGGGGG 1 -- int10--------
    rs1446116141,2
    --21180805(+) TTGCTC/TTTAGG 1 -- int10--------
    rs1893479301,2
    --21180839(+) TGAATA/CTCTCT 1 -- int10--------
    rs795465391,2
    F--21180875(+) GAGGAC/GAGGGA 1 -- int10--------
    rs75300851,2
    C,F,A--21180953(+) agtgcG/Atattg 1 -- int19Minor allele frequency- A:0.30NA WA CSA EA 368
    rs1820003791,2
    --21181015(+) AGACAC/TGATTC 1 -- int10--------
    rs31213951,2
    C,A--21181137(+) atagaC/Tccccc 1 -- int112Minor allele frequency- T:0.21NA WA CSA EA 374
    rs1485133571,2
    --21181174(+) AACAAA/GCCCTA 1 -- int10--------
    rs1136192711,2
    C--21181212(+) CATACG/CTATGG 1 -- int11Minor allele frequency- C:0.00CSA 1
    rs1872917751,2
    --21181233(+) TTTATA/GAATTA 1 -- int10--------
    rs748325391,2
    C--21181263(+) GATAA-/CT/TA 
            
    YATAA
    1 -- int10--------
    rs359556551,2
    C--21181264(+) ATAAC-/TAATAAA 1 -- int10--------
    rs586028351,2
    C--21181264(+) ATAAC-/TAATAAA 1 -- int11Minor allele frequency- TA:0.00NA 2
    rs1916949121,2
    --21181289(+) GACAAC/TATACT 1 -- int10--------
    rs360403661,2
    C--21181318(+) TGTGG-/TCTCTCT 1 -- int10--------
    rs1426525461,2
    C--21181331(+) CTCTCC/TCCTCT 1 -- int10--------
    rs75226791,2
    C,F,A,H--21181388(+) tgaaaT/Ctgcag 1 -- int19Minor allele frequency- C:0.29WA NA CSA EA 371
    rs1510184841,2
    --21181711(+) CCTTAA/GGTTAT 1 -- int10--------
    rs1997692201,2
    --21181742(+) GATGCC/TGGCCT 1 -- int10--------
    rs2019394391,2
    C--21181752(+) TCATAC/TGTTTG 1 -- int10--------
    rs3722800831,2
    C--21181801(+) AGCAAC/GTAGCC 2 L V mis10--------
    rs2007088481,2
    --21181803(+) CAACTA/GGCCCC 2 L syn10--------
    rs617359321,2
    C,F--21181834(+) TTCTCC/TGCGCC 2 R C mis12Minor allele frequency- T:0.00NS NA 4598
    rs2000365611,2
    --21181843(+) CCTTCA/TCCTCT 2 T S mis10--------
    rs1130925231,2
    C,F--21181850(+) CTCTTC/ACGTGC 2 /Y /S mis12Minor allele frequency- A:0.00CSA NA 4554
    rs1466919961,2
    C--21181856(+) CGTGCC/TGCTGC 2 P L mis10--------
    rs1481447731,2
    C,F--21181857(+) GTGCCG/ACTGCT 2 /P syn12Minor allele frequency- A:0.00NA EU 5875
    rs1816752281,2
    C--21181868(+) GCCAGA/GGGCCC 2 E G mis10--------
    rs2019401471,2
    --21181904(+) CTCACA/GCCTCC 2 H R mis10--------
    rs1126002921,2
    C,F--21181912(+) TCCACC/GCTGAA 2 P A mis12Minor allele frequency- G:0.00CSA NA 4553
    rs73491861,2,,4
    C,F,H--21181913(+) CCACCC/TTGAAG 2 P L mis1 ese37Minor allele frequency- T:0.01NS EA NA 664
    rs2001913961,2
    --21181920(+) GAAGGC/TCTGGG 2 G syn10--------
    rs2021286851,2
    --21181934(+) TGGCCA/GGACGC 2 Q R mis10--------
    rs562003571,2
    C,F--21181935(+) GGCCGG/AACGCT 2 /R syn12Minor allele frequency- A:0.00NA EU 5695
    rs1459908231,2
    F--21181941(+) ACGCTG/ATTCCT 2 /L syn11Minor allele frequency- A:0.00NA 4550
    rs1421836241,2
    C,F--21181947(+) TTCCTC/TGTTAT 2 L syn11Minor allele frequency- T:0.01NA 4550
    rs2009491391,2,,4
    --21181948(+) TCCTCA/GTTATG 2 I V mis10--------
    rs1392267331,2
    C,F--21181951(+) TCGTTA/TTGAAG 2 M L mis12Minor allele frequency- T:0.00NA EU 5489
    rs1402668501,2
    --21182014(+) GAGCTG/TGTTCC 1 -- int10--------
    rs1159988411,2
    C,F--21182030(+) TCCATG/CTGCAC 1 -- int12Minor allele frequency- C:0.04WA EA 238
    rs1863997141,2
    C--21182166(+) ATCTTC/TATCCA 1 -- int10--------
    rs1453506501,2
    --21182179(+) ACATAC/TTTGTC 1 -- int10--------
    rs1900788671,2
    --21182182(+) TACTTA/GTCACC 1 -- int10--------
    rs1823064691,2
    --21182237(+) ACTTAC/TCTGTT 1 -- int10--------
    rs107996561,2
    C,F,A,H--21182257(+) AAAACC/TGTTCT 1 -- int19Minor allele frequency- T:0.28NA WA EA 372
    rs789134681,2
    C,F--21182384(+) GAGGAT/CGGTGA 1 -- int12Minor allele frequency- C:0.10CSA WA 119
    rs31317111,2
    C,F,A,H--21182422(+) GAAAAA/GTGGGA 1 -- int112Minor allele frequency- G:0.04NA WA CSA EA 377
    rs1869722351,2
    --21182453(+) GGAAGA/TGGAAC 1 -- int10--------
    rs1898139371,2
    --21182496(+) GAGGCC/TGGGAA 1 -- int10--------
    rs1378768531,2
    --21182512(+) GCTGAC/TGCCTG 1 -- int10--------
    rs31317121,2
    C,F,A--21182668(+) TACTCG/AGGAGG 1 -- int15Minor allele frequency- A:0.40NA WA 10
    rs561253891,2
    C--21182704(+) TGGAAG/CGTGGA 1 -- int11Minor allele frequency- C:0.50NA 2
    rs1419234451,2
    --21182730(+) AGATCA/GTGCTA 1 -- int10--------
    rs1439922061,2
    --21182752(+) CTTGGC/TGACAG 1 -- int10--------
    rs559464321,2
    C--21182790(+) AAAAA-/A/AAA 
            
    CGTAT
    2 -- int1 cds11NA 2
    rs1150372541,2
    F--21182792(+) AAAACG/ATATTG 1 -- int11Minor allele frequency- A:0.04WA 118
    rs31317131,2
    C,F,H--21182841(+) TCTCCA/GCCAGC 1 -- int128Minor allele frequency- G:0.17NS EA NA WA CSA EU 3659
    rs1139108831,2
    C--21182845(+) CGCCAA/C/GCTATC 1 -- spa11CSA 1
    rs1996784361,2
    --21182852(+) TATCCC/GTGTAC 2 P syn10--------
    rs1840433091,2
    C--21182896(+) CCCCCA/GCCTCG 2 H R mis10--------
    rs558317331,2,,4
    C,F--21182901(+) GCCTCG/ACCGCC 2 /T /A mis13Minor allele frequency- A:0.00NA EU 5989
    rs37381361,2,,4
    C,F,H--21182904(+) TCGCCG/ACCATG 2 /T /A mis1 ese322Minor allele frequency- A:0.09EA NS NA EU 9702
    rs358130941,2,,4
    C--21182909(+) GCCATG/AATGCT 2 /I /M mis12Minor allele frequency- A:0.00NA 4
    rs767535861,2
    C--21182961(+) GCATCG/ACGCAC 2 /T /A mis12Minor allele frequency- A:0.00WA NA 4670
    rs1445509851,2
    C--21182963(+) ATCGCG/ACACAG 2 /A syn11Minor allele frequency- A:0.00NA 4552
    rs2007297151,2
    C--21182982(+) AATCCG/AACAAC 2 /N /D mis11Minor allele frequency- A:0.00EU 1323
    rs760841031,2
    C--21183049(+) GGCACC/TAGAGG 1 -- int10--------
    rs672517781,2
    C--21183098(+) CTCTG-/GTTTTG
    TGTTCTAA
    GTCAT
    1 -- int10--------
    rs559218141,2
    C,F--21183100(+) CTGGTTTTGTGTT
    CTAAGT
    /-
    CATGT
    1 -- int11Minor allele frequency- -:0.21NA 48
    rs31317141,2
    C,F,A--21183133(+) GCTCCG/ACACAC 1 -- int112Minor allele frequency- A:0.45NA WA CSA EA 400
    rs1418538771,2
    C--21183167(+) AGAAC-/GGGGTT 1 -- int10--------
    rs795484301,2
    C--21183170(+) ACGGGG/TTTTTT 1 -- int10--------
    rs1889739121,2
    --21183172(+) GGGGTC/TTTTTT 1 -- int10--------
    rs1929502511,2
    --21183283(+) GGCCCA/GGCACA 1 -- int10--------
    rs1851529851,2
    --21183402(+) AAAAAA/TAATAT 1 -- int10--------
    rs1870534421,2
    --21183455(+) ATGCAC/TCTGTA 1 -- int10--------
    rs124030841,2
    C,F,H--21183487(+) gaggtC/Tggagg 1 -- int11Minor allele frequency- T:0.50NA 4
    rs124093111,2
    C,F,H--21183490(+) gtcggA/Gggatc 1 -- int11Minor allele frequency- G:0.33NA 6
    rs1148066941,2
    F--21183491(+) TCGGAG/AGATCA 1 -- int11Minor allele frequency- A:0.03NA 120
    rs2015017461,2
    --21183602(+) AATAA-/TAAAG 
            
    TAAAA
    1 -- int10--------
    rs1508548981,2
    C--21183654(+) CGGCCA/GGGGGT 1 -- int10--------
    rs1392436561,2
    --21183665(+) AGTGGC/GTCACG 1 -- int10--------
    rs1499901011,2
    C--21183677(+) CTGTAA/GTCCCA 1 -- int10--------
    rs1915029631,2
    --21183702(+) TGAGGC/TGGGCA 1 -- int10--------
    rs31216811,2
    C,A,H--21183707(+) cgggcG/Agatca 1 -- int14Minor allele frequency- A:0.00NA 8
    rs724608591,2
    C--21183930(+) CTCAA-/AAAT  
            
    AATAA
    1 -- int10--------
    rs1116504891,2
    C--21183934(+) AAATAAATT/-  
            
    AATTA
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs752360861,2
    C,F--21183963(+) TCAAAC/TAATGA 1 -- int12Minor allele frequency- T:0.06WA EA 238
    rs1839429851,2
    --21184067(+) AAATTA/GTAAGG 1 -- int10--------
    rs1882785811,2
    --21184086(+) ACATCC/TGATAA 1 -- int10--------
    rs66779941,2
    C,A--21184157(+) atttaC/Tttact 1 -- int10--------
    rs2005598101,2
    C--21184157(+) TTTAT-/TTAC  
            
    TTACT
    1 -- int10--------
    rs1422173551,2
    C--21184158(+) TTATT-/TTAC  
            
    TACTT
    1 -- int10--------
    rs127548031,2
    C,A--21184161(+) atttaC/Tttatt 1 -- int10--------
    rs1399930981,2
    --21184165(+) ACTTAC/TTTATT 1 -- int10--------
    rs1434938791,2
    --21184280(+) CGTGCC/TTCCGC 1 -- int10--------
    rs66629321,2
    C,F--21184322(+) caccaC/G/Tgccta 1 -- int14NA 10
    rs715857751,2
    C--21184339(+) TTTGA-/T/    
       TTTTT
    TTTTT
    1 -- int11NA 2
    rs1403534451,2
    --21184448(+) CACCAG/TTCTCC 1 -- int10--------
    rs1807939921,2
    --21184496(+) CACCAC/GCACGC 1 -- int10--------
    rs75322021,2
    C,F,A--21184545(+) tcaccG/Atgtta 1 -- int13Minor allele frequency- A:0.40NA CSA 5
    rs1856355171,2
    C--21184578(+) GACTTC/TGTGAT 1 -- int10--------
    rs1113549721,2
    C--21184579(+) ACTTCA/GTGATC 1 -- int10--------
    rs75322961,2
    C,F--21184665(+) tctcaG/Aactcc 1 -- int15Minor allele frequency- A:0.44NA CSA 9
    rs92870341,2
    C,F,A--21184685(+) gtgatT/Ccaccc 1 -- int14Minor allele frequency- C:0.38NA WA 8
    rs120283121,2
    C,F,A--21184734(+) caccaC/Tgccca 1 -- int17Minor allele frequency- T:0.31