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

SDHA Gene

protein-coding   GIFtS: 65
GCID: GC05P000208

succinate dehydrogenase complex, subunit A, flavoprotein...


(Previous symbol: SDH2)
 Explore 41 diseases affiliated with
SDHA via our new
 Human Malady Compendium 
Biological research products
for SDHA
    

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

Aliases
Succinate Dehydrogenase Complex, Subunit A, Flavoprotein (Fp)1 2     CMD1GG2 5
SDHF1 2 3 5     SDH12 5
SDH21 2 3     PGL52
FP1 2     Succinate Dehydrogenase [Ubiquinone] Flavoprotein Subunit, Mitochondrial2
Flavoprotein Subunit Of Complex II2 3     Succinate Dehydrogenase Complex Flavoprotein Subunit2
EC 1.3.5.13 8     Fp3

External Ids:    HGNC: 106801   Entrez Gene: 63892   Ensembl: ENSG000000735787   OMIM: 6008575   UniProtKB: P310403   

Export aliases for SDHA gene to outside databases

Previous GC identifers: GC05P000259 GC05P000271


(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 SDHA:
This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial
respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial
inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency
known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: DHSA_HUMAN, P31040
Function: Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the
mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone
(coenzyme Q). Can act as a tumor suppressor

Gene Wiki entry for SDHA


(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_000005.9  NC_018916.1  NT_006576.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SDHA gene promoter:
         GATA-3   p53   Brachyury   ATF-2   FOXD3   CUTL1   Ik-3   Evi-1   HOXA5   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSDHA promoter sequence
   Search SABiosciences Chromatin IP Primers for SDHA

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


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

Entrez Gene cytogenetic band: 5p15   Ensembl cytogenetic band:  5p15.33   HGNC cytogenetic band: 5p15

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

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P000208:  view genomic region     (about GC identifiers)

Start:
218,356 bp from pter      End:
256,815 bp from pter
Size:
38,460 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: DHSA_HUMAN, P31040 (See protein sequence)
Recommended Name: Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial precursor  
Size: 664 amino acids; 72692 Da
Cofactor: FAD
Subunit: Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB,
and a cytochrome b560 composed of SDHC and SDHD. Interacts with SDHAF2/SDH5; interaction is required for FAD
attachment
Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
Miscellaneous: The complex, present in mitochondria, can be degraded to form EC 1.3.99.1, which no longer reacts with
ubiquinone
Sequence caution: Sequence=CAA37886.1; Type=Miscellaneous discrepancy; Note=Differs extensively from that shown;
Secondary accessions: A8K5J6 Q16395 Q9UMY5

Explore the universe of human proteins at neXtProt for SDHA: NX_P31040

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P31040

  • 4/26 DME Specific Peptides for SDHA (P31040) (see all 26)
     QYPVVDH  EDGSIHR  WNTDLVE  NAGEESV 

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

    REFSEQ proteins: NP_004159.2  
    ENSEMBL proteins: 
     ENSP00000264932   ENSP00000426514   ENSP00000427703   ENSP00000425077   ENSP00000422404  
     ENSP00000421911  
    Reactome Protein details: P31040
    Human Recombinant Protein Products: 
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    Uscn Proteins for SDHA

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA7550341
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005749mitochondrial respiratory chain complex II TAS7550341


    SDHA for ontologies           About GeneDecksing



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

    SDHA for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR011281 Succ_DH_flav_su_fwd
     IPR015939 Fum_Rdtase/Succ_DH_flav-like_C
     IPR003952 FRD_SDH_FAD_BS
     IPR003953 FAD_bind_dom
     IPR014006 Succ_Dhase_FrdA_Gneg

    Graphical View of Domain Structure for InterPro Entry P31040

    ProtoNet protein and cluster: P31040

    1 Blocks protein family: IPB003952 Fumarate reductase/succinate dehydrogenase

    UniProtKB/Swiss-Prot: DHSA_HUMAN, P31040
    Similarity: Belongs to the FAD-dependent oxidoreductase 2 family. FRD/SDH subfamily


    (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: DHSA_HUMAN, P31040
    Function: Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the
    mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone
    (coenzyme Q). Can act as a tumor suppressor
    Catalytic activity: Succinate + ubiquinone = fumarate + ubiquinol

         Genatlas biochemistry entry for SDHA:
    succinate dehydrogenase,flavoprotein,inner mitochondrial membrane,component,70kDa,of complex II of mitochondrial
    respiratory chain,oxidative phosphorylation,(OXPHOS),also catalyzing the seventh step of the citric acid cycle

    Enzyme Number (IUBMB): EC 1.3.5.11 2

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    Inhib. RNA
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000104contributes to succinate dehydrogenase activity IMP7550341
    GO:0005515protein binding IPI19688755
    GO:0008177succinate dehydrogenase (ubiquinone) activity IEA--
    GO:0016627oxidoreductase activity, acting on the CH-CH group of donors ----
    GO:0050660flavin adenine dinucleotide binding IEA--


    SDHA for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SDHA:
     Decreased Salmonella enterica  


    (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  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.1.00
    Oxidative phosphorylation0.63
    Respiratory electron transport0.81
    Parkinson's disease0.61
    Electron Transport Chain0.76
    Alzheimer's disease0.43
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Huntington's disease0.40
    2TCA Cycle
    TCA Cycle1.00
    Pyruvate metabolism and Citric Acid (TCA) cycle0.64
    Citrate cycle (TCA cycle)0.65
    3Metabolism
    Metabolism1.00
    Metabolic pathways0.38
    4TCA cycle II (eukaryotic)
    TCA cycle II (eukaryotic)1.00
    Citric acid cycle (TCA cycle)0.67
    5Glucose / Energy Metabolism
    Glucose / Energy Metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for SDHA
        Glucose / Energy Metabolism

    3 BioSystems Pathways for SDHA 
        TCA Cycle
    Electron Transport Chain
    TCA cycle II (eukaryotic)

    5/6        Reactome Pathways for SDHA (see all 6)
        Pyruvate metabolism and Citric Acid (TCA) cycle
    Respiratory electron transport
    Metabolism
    Citric acid cycle (TCA cycle)
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.


    5/6         Kegg Pathways  (Kegg details for SDHA) (see all 6):
        Citrate cycle (TCA cycle)
    Oxidative phosphorylation
    Metabolic pathways
    Alzheimer's disease
    Parkinson's disease

    UniProtKB/Swiss-Prot: DHSA_HUMAN, P31040
    Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; fumarate from succinate (eukaryal route): step 1/1


    SDHA for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SDHA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/84 Interacting proteins for SDHA (P310401, 2, 3 ENSP000002649324) via UniProtKB, MINT, STRING, and/or I2D (see all 84)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SDHBP219121, 3, ENSP000003646494EBI-1057265,EBI-1056481 I2D: score=8 STRING: ENSP00000364649
    CSNK2BP678702, 3MINT-8253638 I2D: score=2 
    ETFAP138043, ENSP000002679504I2D: score=1 STRING: ENSP00000267950
    FHP079543, ENSP000003555184I2D: score=1 STRING: ENSP00000355518
    HLA-BP304803, ENSP000003991684I2D: score=1 STRING: ENSP00000399168
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006099tricarboxylic acid cycle TAS--
    GO:0006105succinate metabolic process IDA7550341
    GO:0007399nervous system development IMP16361598
    GO:0022900electron transport chain ----
    GO:0022904respiratory electron transport chain TAS--


    SDHA 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

    SDHA for compounds           About GeneDecksing

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

    Browse Tocris compounds for SDHA

    9 HMDB Compounds for SDHA    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Fumaric acid(2E)-But-2-enedioate (see all 22)110-17-8--
    IronArmco iron (see all 19)7439-89-6--
    QH2CoQH2 (see all 5)56275-39-9--
    Succinic acid1,2-Ethanedicarboxylate (see all 11)110-15-6--
    SulfideSulfide (see all 4)18496-25-8--
    Ubiquinol 8ubiquinol-8 (see all 2)56275-39-9--
    Ubiquinone Q1Coenzyme Q (see all 9)727-81-1--
    Ubiquinone Q22-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione (see all 7)606-06-4--

    5 DrugBank Compounds for SDHA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Succinic acid1,2-Ethanedicarboxylic acid (see all 8)110-15-6target--16484232 10779596 17139284 17016423 12231007
    2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol-- --target--10592235
    Carboxin2,3-Dihydro-5-carboxanilido-6-methyl-1,4-oxathiin (see all 6)5234-68-4target--10592235
    Thenoyltrifluoroacetone.alpha.-Thenoyltrifluoroacetone (see all 7)326-91-0target--10592235
    UBIQUINONE-1-- --target--10592235

    8 Novoseek chemical compound relationships for SDHA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    succinate 86.9 32 9467555 (3), 10199764 (2), 17376234 (2), 11404820 (1) (see all 25)
    iron-sulfur 76.4 8 11692162 (1), 8161512 (1), 10799306 (1), 9533030 (1) (see all 8)
    glyceraldehyde 3-phosphate 58.7 4 17026756 (1), 19036168 (1), 17324259 (1), 18460208 (1)
    ubiquinone 42.4 1 15989954 (1)
    flavin 38.2 3 12699430 (1), 7798181 (1)
    nadh 31.5 9 8161512 (1), 15250765 (1), 9396029 (1)
    nad+ 26.7 2 15250765 (1), 9396029 (1)
    oxygen 0 2 11692162 (1), 17376234 (1)

    Search CenterWatch for drugs/clinical trials and news about SDHA / DHSA 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SDHA gene: 
    NM_004168.2  

    Unigene Cluster for SDHA:

    Succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
    Hs.440475  [show with all ESTs]
    Unigene Representative Sequence: NM_004168
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000264932(uc003jao.4 uc011clw.2 uc021xvu.1) ENST00000504309
    ENST00000506138 ENST00000502379 ENST00000505555(uc011clv.1) ENST00000510361
    ENST00000509632 ENST00000504824 ENST00000509420 ENST00000514027(uc003jaq.4)
    ENST00000514233 ENST00000512962 ENST00000515752 ENST00000511810 ENST00000515815
    ENST00000509082 ENST00000503674 ENST00000507266

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    Additional cDNA sequence: 

    AB208991.1 AK094879.1 AK225027.1 AK291311.1 AK295937.1 AK302524.1 BC001380.2 BC004328.1 
    BC041016.1 D30648.1 L21936.1 

    24/38 DOTS entries (see all 38):

    DT.95100115  DT.97817039  DT.454057  DT.100879599  DT.120852151  DT.120852084  DT.92464244  DT.91864402 
    DT.100879621  DT.102843654  DT.120852170  DT.100879608  DT.120852132  DT.97860756  DT.120852137  DT.95100142 
    DT.120852102  DT.92464258  DT.100725649  DT.120852080  DT.120852152  DT.120852163  DT.92464266  DT.95100124 

    24/571 AceView cDNA sequences (see all 571):

    F06126 BM808232 BP378905 BM853966 AA480637 BX339977 BC001380 BE902398 
    BU542449 BM826249 BG479336 BX405138 BQ709821 BM679157 BQ009493 AK094879 
    BQ959961 AA679148 BG823073 BU173959 AI887650 BQ220377 CA502742 CF128727 

    GeneLoc Exon Structure


    (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

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

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

    About this image
    See SDHA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SDHA

    SOURCE GeneReport for Unigene cluster: Hs.440475
        SABiosciences Expression via Pathway-Focused PCR Arrays including SDHA: 
              Mitochondrial Energy Metabolism in human mouse rat
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              Glucose Metabolism in human mouse rat

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    In Situ
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    (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 last universal common ancestor (LUCA).

    Orthologs for SDHA gene from 11/41 species (see all 41)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sdha1 , 5 succinate dehydrogenase complex, subunit A, flavoprotein more1, 5 86.65(n)1
    94.88(a)1
      13 (40.15 cM)5
    669451  NM_023281.11  NP_075770.11 
     743222545 
    chicken
    (Gallus gallus)
    Aves SDHA1 succinate dehydrogenase complex, subunit A, flavoprotein more 77.96(n)
    89.16(a)
      395758  XM_419054.3  XP_419054.2 
    lizard
    (Anolis carolinensis)
    Reptilia SDHA6
    --
    89(a)
    1 ↔ 1
    6(56572378-56594714)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC685182 hypothetical protein MGC68518 77.65(n)    BC060446.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc560512 similar to succinate dehydrogenase complex, subunit more 77.01(n)   393884  BC045885.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Scs-fp3
    SdhA1
    tricarboxylic acid cycle succinate-CoA
    ligase more3
    Succinate dehydrogenase A1
    73(a)
    (best of 2)3
    68.13(n)1
    74.66(a)1
      2 56D33
    372281  NM_166344.21  NP_725882.11 
    worm
    (Caenorhabditis elegans)
    Secernentea C03G5.13
    sdha-11
    succinate dehydrogenase flavoprotein subunit3
    Protein SDHA-11
    72(a)
    (best of 2)3
    64.52(n)1
    73.39(a)1
      X(8578453-8581258)3
    1811081  NM_077045.41  NP_509446.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SDH1(YKL148C)4
    YJL045W1
    Flavoprotein subunit of succinate dehydrogenase (Sdh1p, more4
    hypothetical protein1
    61.79(n)1
    68.4(a)1
      11(171129-169207)4
    8534051  NP_012490.11  8537094 
     NP_012774.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SDH1-11 succinate dehydrogenase [ubiquinone] flavoprotein subunit more 64.04(n)
    70.81(a)
      836809  NM_126074.2  NP_201477.1 
    rice
    (Oryza sativa)
    Liliopsida Os.225812 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 73.38(n)    AK099460.1 


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

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

    SDHA for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for SDHA
    PGOHUM00000250273 PGOHUM00000250275 PGOHUM00000250313 PGOHUM00000251283


    (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

    1131/1167 NCBI SNPs in SDHA are shown (see all 1167    About this table
    <
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs98092191,2
    C,Fpathogenic4004826(+) TTGACC/TGGGGT 2 R W mis12Minor allele frequency- T:0.50NA 4
    rs10615171,2
    Cpathogenic4037579(+) CAGACA/C/GTGTCG 3 M L V mis1 ese31NA 2
    rs623465221,2
    --207089(+) CGAGGC/TCGCGC 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs751387661,2
    C,F,--207138(+) CCCCCC/AAAAAA 1 -- us2k14Minor allele frequency- A:0.13WA NA 242
    rs1128795151,2
    C,--207162(+) AAAGG-/AAAAAA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs284160841,2
    C,F,H,--207530(+) ACACCG/AGACAC 1 -- us2k114Minor allele frequency- A:0.11NS EA WA NA 2076
    rs737307671,2
    C,--207535(+) GGACAT/CTTTCA 1 -- us2k12Minor allele frequency- C:0.25WA 4
    rs21152731,2
    C,F,A,H,--207811(-) GAAACT/CTCGTG 1 -- us2k112Minor allele frequency- C:0.05EA NS NA 1602
    rs37567171,2
    C,F,--207861(-) TGGAGG/TTCACA 1 -- us2k16Minor allele frequency- T:0.09NA WA CSA EA 364
    rs37567151,2
    C,--207926(-) CTCCGA/GCCTCT 1 -- us2k15Minor allele frequency- G:0.35WA NA CSA 244
    rs18640901,2
    F--208700(-) GGCCCG/AGACCA 1 -- int12Minor allele frequency- A:0.02EA 180
    rs100549021,2
    C,A,--208912(+) GGTGAG/AACCGC 1 -- int14Minor allele frequency- A:0.23NA WA EA 360
    rs100610041,2
    C,F,A,--209028(+) TCTGTC/GCATGT 1 -- int16Minor allele frequency- G:0.24WA NA CSA EA 364
    rs768678671,2
    --209171(+) CTGACC/TGGGCG 1 -- int12Minor allele frequency- T:0.04CSA WA 119
    rs100674821,2
    C,F,A,--209218(+) GCCTCT/GAGGGC 1 -- int15Minor allele frequency- G:0.13WA NA CSA 128
    rs68598531,2
    C,--209451(+) TCTCAA/GTAGGA 1 -- int11Minor allele frequency- G:0.00NA 2
    rs562320881,2
    C,,--210307(+) CCAAGG/AAACTT 1 -- int11Minor allele frequency- A:0.50WA 2
    rs727113211,2
    C,,--210419(+) GAATGG/TATTGT 1 -- int11Minor allele frequency- T:0.01NA 120
    rs727113221,2
    C,,--210426(+) TTGTTC/TTGAAT 1 -- int10--------
    rs727113231,2
    C,,--210471(+) GCCATT/AATAGT 1 -- int11Minor allele frequency- A:0.01NA 120
    rs623465241,2
    --210475(+) TTATAG/TTAGTA 1 -- int11Minor allele frequency- T:0.50NA 2
    rs562993251,2
    C,F,--210484(+) TAAACC/TTTTGC 1 -- int17Minor allele frequency- T:0.24WA NA CSA EA 366
    rs623465261,2
    C,F,--210504(+) TGGGAT/CAATTG 1 -- int17Minor allele frequency- C:0.24WA NA CSA EA 366
    rs560430301,2
    C,--210807(+) TAACCA/GTGTGT 1 -- int16Minor allele frequency- G:0.24WA CSA NA EA 364
    rs575603391,2
    C,--211166(+) AAAATT/ACTAGT 1 -- int12Minor allele frequency- A:0.36WA 120
    rs583784721,2
    C,--211167(+) AAATTC/ATAGTG 1 -- int12Minor allele frequency- A:0.37WA 120
    rs100670211,2
    C,--211380(+) GCTTCC/TGCTTC 1 -- int16Minor allele frequency- T:0.24WA NA EA 364
    rs93129771,2
    C,A,--211806(+) AGATTG/CAGAGG 1 -- int16Minor allele frequency- C:0.24NA WA CSA EA 364
    rs93129781,2
    C,F,--211820(+) AGTGTC/GCTTTT 1 -- int16Minor allele frequency- G:0.10NA WA CSA EA 364
    rs93129791,2
    C,F,--211947(+) CTAGAA/CAGAAC 1 -- int16Minor allele frequency- C:0.09NA WA CSA EA 364
    rs93129801,2
    C,F,A,--212013(+) TCTTAC/TTGGTG 1 -- int16Minor allele frequency- T:0.24WA NA CSA EA 364
    rs68819201,2
    C,F,A,--212301(+) GACATT/CCCTCA 1 -- int15Minor allele frequency- C:0.33NA WA CSA 244
    rs68820861,2
    C,F,--212384(+) gtctcT/Gctctg 1 -- int15Minor allele frequency- G:0.32NA WA 244
    rs570371611,2
    C,--212663(+) TTGATG/AATATT 1 -- int11Minor allele frequency- A:0.50WA 2
    rs560309431,2
    C,F,--212822(+) TAAAGT/GTTTCT 1 -- int17Minor allele frequency- G:0.24WA NA CSA EA 366
    rs600812371,2
    C,--212904(+) GGCAGG/AGGAGA 1 -- int11Minor allele frequency- A:0.50WA 2
    rs68780611,2
    C,F,A,--212962(+) CCTCTA/GGGCTG 1 -- int17Minor allele frequency- G:0.24WA NA CSA EA 366
    rs68780871,2
    C,F,A,H,--213007(+) ATTCAA/GTGTTG 1 -- int122Minor allele frequency- G:0.26NS EA NA WA CSA 2186
    rs68702281,2
    C,F,A,--213104(+) CATTAC/TTTGCA 1 -- int16Minor allele frequency- T:0.33NA WA CSA 245
    rs68825841,2
    C,F,A,--213301(+) GGCTCA/CGTCCT 1 -- int17Minor allele frequency- C:0.34WA NA CSA 250
    rs10615181,2
    F--213520(+) GAGGTT/GTTCAC 2 /V /F mis11Minor allele frequency- G:0.10MN 184
    rs10615191,2
    H--213537(+) GTTGAT/AGGGAA 2 /E /D mis16Minor allele frequency- A:0.00MN NS EA NA 592
    rs10615201,2
    H,--213544(+) GGAACA/GAGAGG 2 K E mis1 ese36Minor allele frequency- G:0.00MN NS EA NA 592
    rs32138391,2
    C,F,--213697(-) AGCATG/ACATTG 1 -- int16Minor allele frequency- A:0.04EA NA WA CSA 1489
    rs32138381,2
    C,A,--213780(-) CATAAC/GAGATA 1 -- int15Minor allele frequency- G:0.24WA NA EA 362
    rs32173271,2
    C--213805(-) TGATC-/TAAATT
            
    TAAAT
    1 -- int10--------
    rs68883781,2
    C,F,A,H,--213848(+) AACAGT/CGTCTG 1 -- int119Minor allele frequency- C:0.25NS EA WA NA CSA 2344
    rs65550491,2
    C,F,A,--214086(+) GGCATT/AAGCAT 1 -- int14Minor allele frequency- A:0.25WA CSA 8
    rs65550501,2
    C,F,A,--214097(+) AGGCAT/CGGCCC 1 -- int14Minor allele frequency- C:0.22WA CSA 9
    rs65550511,2
    C,F,A,--214101(+) ACGGCT/CCTGAA 1 -- int14Minor allele frequency- C:0.22WA CSA 9
    rs65550521,2
    C,F,A,--214158(+) CATTCG/ATAGAA 1 -- int18Minor allele frequency- A:0.24WA NA CSA EA 369
    rs359476141,2
    F,--214287(+) TGTCAA/GGCTCT 1 -- int12Minor allele frequency- G:0.12EU 178
    rs77057211,2
    C,F,A,--214582(+) GCCTCG/TCACTT 1 -- int17Minor allele frequency- T:0.16EU WA NA CSA 189
    rs616894901,2
    C,F,--214794(+) CCACCT/CACCCC 1 -- int17Minor allele frequency- C:0.25WA NA CSA EA 366
    rs68856931,2
    C,F,A,H,--215157(+) CTGCTC/ACAGTC 1 -- int12Minor allele frequency- A:0.50NA WA 4
    rs614928271,2
    C,--215664(+) CAGCCA/GAAAGA 1 -- int16Minor allele frequency- G:0.25NA CSA WA EA 363
    rs563425381,2
    C,F,--215686(+) CAAAGT/CTCACA 1 -- int16Minor allele frequency- C:0.35WA NA CSA 247
    rs594525111,2
    C,F,--215831(+) AGCTGC/TGAATA 1 -- int18Minor allele frequency- T:0.28WA NA CSA EA 370
    rs65550561,2
    C,F,A,,--216112(+) GACAGT/CGGGGA 1 -- int16Minor allele frequency- C:0.09WA NA CSA EA 248
    rs65550571,2
    C,F,A,H,--216154(+) GATTAC/TGTAAA 1 -- int18Minor allele frequency- T:0.03NS EA NA WA CSA 296
    rs65550581,2
    C,F,A,H,--216266(+) CTTGCA/GTCTAT 1 -- int122Minor allele frequency- G:0.26NS EA NA WA 2636
    rs1431935241,2
    --216388(+) TCACTC/GGATCT 2 -- us2k1 int10--------
    rs1913590981,2
    --216389(+) CACTCA/GATCTG 2 -- us2k1 int10--------
    rs1831798261,2
    --216394(+) GATCTA/GCCCAC 2 -- us2k1 int10--------
    rs37567201,2
    C,--216408(-) tctgcA/Gaggcc 2 -- us2k1 int10--------
    rs49569981,2
    C--216447(+) CGCCCA/TGCCCA 2 -- int1 us2k10--------
    rs100430021,2
    C,F,H,--216643(+) aaagaG/Aaaaga 1 -- int1 trp39Minor allele frequency- A:0.24NS EA WA CSA NA 730
    rs623476741,2
    C,--216920(+) CAGAAC/TGAGAC 1 -- int12Minor allele frequency- T:0.25NA WA 4
    rs1878554401,2
    --217179(+) AGGTGA/GAGGTT 2 -- us2k1 int10--------
    rs2010231351,2
    --217185(+) GGTTG-/CCAGTG 2 -- int1 us2k10--------
    rs1505177691,2
    --217218(+) TCCAGC/TCTGGT 2 -- us2k1 int10--------
    rs1923389611,2
    --217234(+) AACGAA/GACTCC 2 -- us2k1 int10--------
    rs623476751,2
    F,--217274(+) CCTCCG/CAAAGT 1 -- int12Minor allele frequency- C:0.50NA CSA 4
    rs623476761,2
    C,F,--217289(+) GGATTG/ACAGGC 1 -- int12Minor allele frequency- A:0.50NA CSA 4
    rs1832512201,2
    --217336(+) AAAACA/GGACAT 2 -- us2k1 int10--------
    rs623476771,2
    C,F,--217343(+) TTAACA/GCTGAA 1 -- int16Minor allele frequency- G:0.35WA NA CSA 246
    rs623476781,2
    C,F,--217386(+) ATCAGA/GGTCAA 1 -- int14Minor allele frequency- G:0.13NA WA CSA 126
    rs1394558631,2
    --217432(+) TTTGTA/TTGTCA 2 -- int1 us2k10--------
    rs730314821,2
    C,--217484(+) GGATCG/ATTAAT 1 -- int14Minor allele frequency- A:0.34WA CSA NA 242
    rs1164807001,2
    F,--217623(+) TCGATA/GAAAGT 2 -- us2k1 int11Minor allele frequency- G:0.03NA 120
    rs1121632771,2
    --217626(+) ACTTGC/TGCTGG 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs1138466181,2
    --217760(+) GTGGCT/AGGTGT 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1124203131,2
    C,F,--217781(+) CTGAAC/TGTTTT 1 -- int13Minor allele frequency- T:0.33WA CSA 6
    rs1123144341,2
    C,--217789(+) TTTGAT/CTTATT 1 -- int12Minor allele frequency- C:0.25WA CSA 4
    rs37567181,2
    C,F,A,H--217830(-) AGAGAA/GCTCTG 2 -- int1 us2k17Minor allele frequency- G:0.40EA NS NA WA 1606
    rs1134385481,2
    C,F,--217883(+) GACTCT/CGAGTG 1 -- int13Minor allele frequency- C:0.33WA CSA 6
    rs623476791,2
    C,F,--217907(+) CCACCA/GGACAG 1 -- int13Minor allele frequency- G:0.33WA CSA 6
    rs74455091,2
    C,F,--217961(+) ACCAAA/CATAGG 1 -- int14Minor allele frequency- C:0.04WA CSA NA 126
    rs28649631,2
    C,--217988(-) GTAATC/TGTGTG 2 -- int1 us2k114Minor allele frequency- T:0.49MN EA NA WA CSA 1627
    rs21628701,2
    C,F,--218019(-) TTCCAC/TGCCGA 1 -- int17Minor allele frequency- T:0.22WA NA CSA EA 366
    rs1479280261,2
    --218083(+) GCCCCA/CCTCCG 2 -- us2k1 int10--------
    rs37649821,2
    C,F,A,H,--218111(-) GTGAAT/CAGGTG 1 -- int17Minor allele frequency- C:0.08EA NS CSA 1902
    rs38350681,2
    C--218169(-) AAAAA-/AGGGCA 1 -- int1 trp31Minor allele frequency- A:0.50CSA 2
    rs1145331641,2
    F,--218226(+) CGCGGG/AACCTC 2 -- us2k1 ut511Minor allele frequency- A:0.06WA 118
    rs10419461,2
    --218286(+) GCATAG/CAGGAC 2 /Q /E mis1 ese32Minor allele frequency- C:0.17MN NA 186
    rs23037411,2
    C,A,--218356(-) GCCGGA/GGTCGA 2 -- ut51 us2k1 ese36Minor allele frequency- G:0.19EU NA WA EA 538
    rs32145611,2
    C,--218381(-) GGGGG-/GATACC 2 -- us2k1 ut51 trp30--------
    rs358052621,2
    F--218382(+) CCCCC-/CTCCCC 2 -- us2k1 ut512Minor allele frequency- C:0.12EU 178
    rs1879643061,2
    C,--218487(+) CCGGGA/GCCTGT 3 D G us2k1 mis10--------
    rs100426041,2
    C,F,H,--218577(+) TTGCCC/ATCAGG 1 -- int112Minor allele frequency- A:0.19NA NS EA WA CSA 675
    rs23037401,2
    C,--218598(-) GGGGAC/TCGTCC 2 -- us2k1 int15Minor allele frequency- T:0.33EA NA 1500
    rs1504300971,2
    C,--218829(+) TGGGA-/CCCCGC 2 -- us2k1 int10--------
    rs591380071,2
    C,F,--218862(+) ATGTGT/CAATAA 1 -- int13Minor allele frequency- C:0.39WA 122
    rs760383121,2
    C,--218895(+) AAAAAA/GAAACC 1 -- int12Minor allele frequency- G:0.05NA 122
    rs287295481,2
    C,F,--218915(+) ACAACC/TTACTA 1 -- int17Minor allele frequency- T:0.24WA NA CSA EA 366
    rs96876211,2
    C,F,--219084(+) catctC/Tgctcc 1 -- int15Minor allele frequency- T:0.10WA CSA NA EA 362
    rs2010672131,2
    C--219119(+) GACAAA/GAGAGC 1 -- int10--------
    rs96877451,2
    C,F,--219199(+) tattaC/Tggaaa 1 -- int17Minor allele frequency- T:0.33NA WA CSA 248
    rs96881361,2
    C,F,A,--219238(+) actacT/Catgtg 1 -- int17Minor allele frequency- C:0.25WA NA CSA EA 366
    rs1510538261,2
    --219321(+) GCTGAA/GTGCCT 2 -- int1 us2k10--------
    rs730314951,2
    C,F,--219357(+) ATGGAA/GACAAC 1 -- int13Minor allele frequency- G:0.38WA 122
    rs1920523161,2
    --219373(+) TATACG/TTCCCT 2 -- int1 us2k10--------
    rs1136512901,2
    C,--219396(+) CTGAGTT/-TGTCT 2 -- int1 us2k11Minor allele frequency- -:0.50CSA 2
    rs1409474681,2
    --219407(+) GAATGC/TGCCCT 2 -- us2k1 int10--------
    rs1844603311,2
    --219423(+) ATTGCA/GTCTTA 2 -- us2k1 int10--------
    rs96881441,2
    C,F,--219433(+) gaaaaT/Cgaagg 1 -- int14Minor allele frequency- C:0.07NA CSA EA 244
    rs1483979001,2
    --219446(+) CTAGGA/GTTTTA 2 -- int1 us2k10--------
    rs1461469611,2
    C,--219506(+) AACTT-/ACCC  
            
    ACCCA
    2 -- us2k1 int10--------
    rs68598481,2
    C,F,A,--219549(+) GCAGAA/GTAAAA 2 -- us2k1 int16Minor allele frequency- G:0.26WA NA CSA EA 364
    rs1418397081,2
    --219632(+) TTGAAA/GTACTT 2 -- us2k1 int10--------
    rs1128243441,2
    C--219647(+) TTACAG/AGGTGA 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1126773991,2
    C,--219667(+) GGTCTA/GATATA 1 -- int12Minor allele frequency- G:0.32WA 120
    rs1129487671,2
    C,--219671(+) TAATAT/AACAAC 1 -- int12Minor allele frequency- A:0.14WA 120
    rs1126042941,2
    C,--219675(+) ATACAA/GCATGG 1 -- int12Minor allele frequency- G:0.13WA 120
    rs1455026901,2
    --219702(+) AGAAAA/GCGTGT 2 -- us2k1 int10--------
    rs1115644421,2
    C,--219764(+) GCATGG/ATGGTT 1 -- int12Minor allele frequency- A:0.47WA 120
    rs1137421711,2
    C,--219768(+) GGTGGC/TTAGAG 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1138324541,2
    C,--219796(+) GGTGGC/TTAGAG 1 -- int11Minor allele frequency- T:0.50WA 2
    rs1135330021,2
    C,--219825(+) GTGGCC/TAGAGT 1 -- int11Minor allele frequency- T:0.00WA 2
    rs623476811,2
    F,--219881(+) GTGGCC/TAGAGT 1 -- int12Minor allele frequency- T:0.50NA CSA 4
    rs1929018431,2
    --219884(+) GTGCCC/TTTGTC 2 -- us2k1 int10--------
    rs1380048411,2
    --219907(+) GGTGCC/TCGGTG 2 -- int1 us2k10--------
    rs1494934431,2
    --219959(+) TCAGAC/TGGGAT 2 -- int1 us2k10--------
    rs1134421741,2
    C,--220002(+) TTGGGT/-TTTTG 2 -- int1 us2k11Minor allele frequency- -:0.50CSA 2
    rs1847704361,2
    --220125(+) CGAAGA/GAACAG 2 -- int1 us2k10--------
    rs1892879811,2
    --220157(+) AAAAAG/TAAAGA 2 -- int1 us2k10--------
    rs559338471,2
    C,--220183(+) CATCAC/TGCTGT 1 -- int17Minor allele frequency- T:0.24WA NA CSA EA 365
    rs623476831,2
    C,--220221(+) AAATTC/TATCAA 1 -- int15Minor allele frequency- T:0.35WA NA 244
    rs2019954051,2
    --220230(+) AGTCC-/AGAGAGA 2 -- int1 us2k10--------
    rs557507761,2
    C,--220357(+) AGGTGT/CGCAGT 1 -- int16Minor allele frequency- C:0.24WA CSA NA EA 364
    rs559514311,2
    C,--220382(+) ATCCCA/GGCACT 1 -- int12Minor allele frequency- G:0.25WA CSA 4
    rs1439619971,2
    --220412(+) GAAAAC/TCAAGA 1 -- int10--------
    rs1411525281,2
    --220425(+) CTTCAA/GTAGTT 1 -- int10--------
    rs1131759621,2
    C,--220433(+) TTACTG/-GGTTA 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs119585641,2
    C,H,--220458(+) gaaacC/Gccatc 1 -- int10--------
    rs100690741,2
    C,F,--220493(+) tgggcG/Atggtg 1 -- int12Minor allele frequency- A:0.50WA CSA 4
    rs1808894441,2
    --220515(+) GATTTA/CTTTTC 1 -- int10--------
    rs100748921,2
    C,F,A,--220594(+) ccactG/Ctactc 1 -- int14Minor allele frequency- C:0.25WA NA CSA 8
    rs1133465991,2
    C,--220640(+) TAAATAAATA/
            
    AAATA
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs100797601,2
    C,F,A,H,--220668(+) TTTCTT/CTGATC 1 -- int1 trp317Minor allele frequency- C:0.27NS EA WA NA 2326
    rs100691971,2
    C,A,--220712(+) CACCAG/CTGGCG 1 -- int15Minor allele frequency- C:0.18NA WA EA 362
    rs100749581,2
    C,F,A,--220718(+) TGGCGC/TGGCCC 1 -- int16Minor allele frequency- T:0.19NA WA CSA EA 364
    rs1135610131,2
    C,--220725(+) GCCCCT/CAGTGA 1 -- int12Minor allele frequency- C:0.30WA 120
    rs737307751,2
    C,--220740(+) TGTGGG/AGTGTG 1 -- int13Minor allele frequency- A:0.36WA 122
    rs730332051,2
    C,--220746(+) GTGTGC/TGTGAG 1 -- int13Minor allele frequency- T:0.42WA 122
    rs556744341,2
    C,--220763(+) GGGGGG/-CAAGT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1505906421,2
    C,--220817(+) TGAGC-/TTCCGT 1 -- int10--------
    rs1845961481,2
    --221119(+) GAGACA/GGGGTT 1 -- int10--------
    rs22884581,2
    C,F,A,H,--221150(-) ATGACG/ATTGAA 1 -- int111Minor allele frequency- A:0.23NS EA WA NA CSA 762
    rs22884571,2
    C,F,A,H,--221160(-) CCTTAG/AGTAAA 1 -- int19Minor allele frequency- A:0.16NS EA NA CSA WA 624
    rs22884561,2
    C,F,A,--221176(-) AGTGTG/CGGAAA 1 -- int13Minor allele frequency- C:0.50NA CSA 8
    rs22884551,2
    C,F,A,--221191(-) CCTTAA/GGGGAA 1 -- int1 trp33Minor allele frequency- G:0.33WA NA CSA 6
    rs77366001,2
    C,F,A,H,--221227(+) TTCTCA/CAGAGC 1 -- int112Minor allele frequency- C:0.23NS EA WA NA CSA 786
    rs1892345861,2
    --221434(+) TTATCA/GGTTTT 1 -- int10--------
    rs1819896871,2
    --221471(+) AGTTCA/GCTTAA 1 -- int10--------
    rs1410641171,2
    --221479(+) TAAACC/TACCCT 1 -- int10--------
    rs1500057141,2
    --221491(+) CTTCCC/GCTTCT 1 -- int10--------
    rs777689361,2
    F,--221596(+) AGGTGC/TGTTGT 1 -- int11Minor allele frequency- T:0.10EA 120
    rs1869266371,2
    --221607(+) ATTAGA/TTGAGG 1 -- int10--------
    rs77149441,2
    C,F,A,H,--221655(+) TTCTCG/ATTAGC 1 -- int124Minor allele frequency- A:0.25NS EA NA WA CSA 2770
    rs560226471,2
    C,--221759(+) TTCTT-/AGAGGA 1 -- int10--------
    rs100520121,2
    C,F,A,--221798(+) GCTTCT/CGTGAC 1 -- int17Minor allele frequency- C:0.24WA NA CSA EA 365
    rs100770761,2
    C,--221830(+) GCAGCC/TGTGAC 1 -- int16Minor allele frequency- T:0.24WA CSA NA EA 363
    rs1917753291,2
    --221913(+) TTTAGA/GTTGAG 1 -- int10--------
    rs1811031891,2
    --221956(+) GTGATA/CATTTG 1 -- int10--------
    rs100521551,2
    C,--221989(+) AAGTCC/TTGAGT 1 -- int11Minor allele frequency- T:0.00WA 2
    rs1863850501,2
    --221989(+) TGCCCA/CTTTTA 1 -- int10--------
    rs100714311,2
    C,A,--222012(+) CTTCAG/AAATGA 1 -- int12Minor allele frequency- A:0.28WA 120
    rs1897175111,2
    --222019(+) TGGTGA/GGGGGT 1 -- int10--------
    rs1157653191,2
    C,--222021(+) GTGGGG/AGGTGG 1 -- int11Minor allele frequency- A:0.01WA 118
    rs737307781,2
    C,--222036(+) ACACAT/CCTGCC 1 -- int11Minor allele frequency- C:0.00WA 2
    rs100802251,2
    C,F,H,--222065(+) GTCCTA/GTACTT 1 -- int19Minor allele frequency- G:0.23NS EA WA CSA NA 766
    rs1823779051,2
    --222074(+) ACATTC/GAGTGA 1 -- int10--------
    rs1869091281,2
    --222078(+) TGAGTG/TATCTC 1 -- int10--------
    rs1909823341,2
    --222099(+) CTTACA/GTTTGG 1 -- int10--------
    rs1400988351,2
    --222124(+) CTTACC/TGGTGC 1 -- int10--------
    rs2020526321,2
    --222172(+) GAACA-/TTTTGT 1 -- int10--------
    rs1835481311,2
    --222256(+) TATTTA/GTTCTT 1 -- int10--------
    rs1500284171,2
    --222388(+) GCAAGA/TATTTC 1 -- int10--------
    rs2003579041,2
    --222404(+) ACTTG-/AAGACA 1 -- int10--------
    rs1884652271,2
    --222451(+) TAAAGC/GTTTTT 1 -- int10--------
    rs1158135751,2
    F,--222470(+) CTTTTT/CTTTTT 1 -- int11Minor allele frequency- C:0.03NA 120
    rs1452478171,2
    --222487(+) AGACGA/TTGTCT 1 -- int10--------
    rs1929184491,2
    --222488(+) GACGTC/TGTCTC 1 -- int10--------
    rs133605541,2
    C,F,--222527(+) ggccTA/GTTGTA 1 -- int13Minor allele frequency- G:0.33WA NA CSA 6
    rs1847343151,2
    --222534(+) CTAGGC/TTCACT 1 -- int10--------
    rs1491533931,2
    --222611(+) GTGCCC/TGCCAC 1 -- int10--------
    rs1880645081,2
    --222616(+) CGCCAC/TGACGC 1 -- int10--------
    rs1432578411,2
    --222656(+) TGCCAC/TGTTGG 1 -- int10--------
    rs104751361,2
    C,F,A,H,--222686(+) GACAGA/GCAAGA 1 -- int19Minor allele frequency- G:0.20NS EA WA NA CSA 518
    rs1917940791,2
    --222740(+) ATGAGC/TCACCG 1 -- int10--------
    rs1835769681,2
    --222798(+) GTGGTC/GTTCTC 1 -- int10--------
    rs93129831,2
    C,F,H,--222859(+) TTGGAG/ACACAG 1 -- int118Minor allele frequency- A:0.21NS EA NA WA CSA 2142
    rs2013549401,2
    --222864(+) TATGG-/TACAGT 1 -- int10--------
    rs1125688221,2
    --222886(+) GGTTTC/GGGTTT 1 -- int11Minor allele frequency- G:0.00CSA 1
    rs1883122151,2
    --222935(+) AGTTTC/TCTAAG 1 -- int10--------
    rs1380974181,2
    --223024(+) AGTGTA/GCATCC 1 -- int10--------
    rs1173579361,2
    F,--223231(+) CACATA/GCAGTA 1 -- int11Minor allele frequency- G:0.03EA 120
    rs1150034611,2
    --223233(+) CATACA/GGTAAT 1 -- int11Minor allele frequency- G:0.01WA 118
    rs1501281811,2
    --223247(+) ATATAC/TACGTC 1 -- int10--------
    rs77023301,2
    C,F,A,--223363(+) TTGCAC/TATAAT 1 -- int17Minor allele frequency- T:0.34WA NA CSA 248
    rs1818652181,2
    --223364(+) TCCTGC/GTTTTC 1 -- int10--------
    rs77252271,2
    C,F,A,H,--223407(+) AAAATG/ATCTTG 1 -- int120Minor allele frequency- A:0.28NS EA NA WA CSA 2018
    rs68745721,2
    C,F,A,H,--223415(+) CAGTCT/CTTCCT 1 -- int111Minor allele frequency- C:0.40NA WA CSA EA 374
    rs1384670001,2
    --223450(+) TAAGTA/GGAGGG 1 -- int10--------
    rs174118281,2
    --223485(+) AGGCAC/TATATG 2 T I mis10--------
    rs10624671,2
    F,--223582(+) GCCCCC/TGTCGC 2 P syn11Minor allele frequency- T:0.19MN 184
    rs10624681,2
    F,--223583(+) CCCCTG/ATCGCG 2 /I /V mis1 ese31Minor allele frequency- A:0.12MN 184
    rs1424416431,2
    C,F--223624(+) GAACCC/TGAGGT 2 R * stg11Minor allele frequency- T:0.00NA 4552
    rs346356771,2
    C,F,--223646(+) TGTTGA/TTGGGA 2 D V mis16Minor allele frequency- T:0.04EU NA 6172
    rs1407366461,2
    C,--223666(+) CATCTG/ACTAAA 2 /T /A mis11Minor allele frequency- A:0.00NA 4552
    rs1445998701,2
    C,F--223669(+) CTGCTA/GAAGTT 2 K E mis11Minor allele frequency- G:0.00NA 4552
    rs802070111,2
    C,F,--223679(+) TTCAGA/GTTCCG 2 D G mis11Minor allele frequency- G:0.01NA 4552
    rs1900863401,2
    --223731(+) CTTAGG/TGGGTA 1 -- int10--------
    rs68749211,2
    C,F,A,H,--223779(+) GCTGCT/CGGCAG 1 -- int16Minor allele frequency- C:0.02NS EA WA CSA NA 418
    rs1817900981,2
    --223806(+) CCAATA/GCATGC 1 -- int10--------
    rs1459692121,2
    C,--223910(+) ACTAG-/ATTTAA
            
    ATTTA
    1 -- int10--------
    rs1864120591,2
    --223930(+) AAGTAA/TAGCAA 1 -- int10--------
    rs1901660891,2
    --223931(+) AGTAAA/GGCAAT 1 -- int10--------
    rs1118076351,2
    C,--224104(+) GCCTAT/-TCTCT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1473649461,2
    --224138(+) AGAAGA/TTGTTT 1 -- int10--------
    rs77148031,2
    C,A,--224200(+) CGGGCG/AGATCA 1 -- int13Minor allele frequency- A:0.20NA WA CSA 5
    rs77149311,2
    C,A,--224288(+) GCGTGG/ATGGCA 1 -- int12Minor allele frequency- A:0.25NA WA 4
    rs77149351,2
    C,A,--224293(+) atggcC/Aggtgc 1 -- int11Minor allele frequency- A:0.50NA 2
    rs77305031,2
    C,A,--224356(+) gaggcT/Ggagct 1 -- int12Minor allele frequency- G:0.25NA WA 4
    rs77323891,2
    C,F,A,H,--224418(+) CAAGAT/GTCTTC 1 -- int116Minor allele frequency- G:0.19NA EU NS EA WA CSA 1577
    rs773945001,2
    C,F--224440(+) AAAAAC/AAAAAA 1 -- int12Minor allele frequency- A:0.50NA WA 4
    rs77151011,2
    C,A,--224445(+) aaaaaC/AaaaaC 1 -- int1 trp32Minor allele frequency- A:0.25NA WA 4
    rs1429268071,2
    C,--224487(+) CTCAGC/TATCCA 2 H Y mis10--------
    rs2011383241,2
    --224558(+) GCATTC/TGGCCT 2 F syn10--------
    rs2000051361,2
    --224563(+) TGGCCC/TTTCTG 2 P L mis10--------
    rs11394241,2
    C,F,--224633(+) GCAGCA/GCAGGT 2 A syn16Minor allele frequency- G:0.24NA CSA EA EU 5866
    rs1115330781,2
    C,F--224656(+) CCCCAC/TTGTGC 1 -- int11Minor allele frequency- T:0.19EU 767
    rs77081821,2
    C,F,A,H,--224677(+) ttaaaC/Ggtaaa 1 -- int115Minor allele frequency- G:0.19NS EA NA WA CSA 1062
    rs2019532571,2
    --224684(+) CCCGCA/GCAGCC 1 -- int10--------
    rs77156961,2
    C,F,A,H,--224756(+) tttatA/Cttagg 1 -- int16Minor allele frequency- C:0.01NS EA WA NA 394
    rs77203951,2
    C,A,--224757(+) ttataA/Ttaggg 1 -- int12Minor allele frequency- T:0.25WA NA 4
    rs1813909871,2
    --224822(+) AGGGCA/GGGAGA 1 -- int10--------
    rs737307811,2
    C,F,--224831(+) AGGGAC/TGACTG 1 -- int13Minor allele frequency- T:0.39WA 122
    rs77085151,2
    C,F,A,H,--224878(+) GGACAC/GCTGCA 1 -- int123Minor allele frequency- G:0.25NS EA NA WA CSA 2666
    rs1436707961,2
    --224953(+) GAGGAA/GGAATC 1 -- int10--------
    rs1467980381,2
    --225010(+) GTGCTG/TCTGTC 1 -- int10--------
    rs1852852091,2
    --225075(+) CTGGGG/TTACAG 1 -- int10--------
    rs1898484661,2
    --225079(+) GGTACA/GGGGGA 1 -- int10--------
    rs1838833411,2
    --225124(+) GGAAGC/TACTTC 1 -- int10--------
    rs1405289131,2
    --225179(+) AATAAA/GATTAT 1 -- int10--------
    rs1888319551,2
    --225293(+) TCCCTC/GTGTCT 1 -- int10--------
    rs1465190141,2
    --225305(+) CACCAC/TGCAGA 1 -- int10--------
    rs1917141641,2
    --225306(+) ACCACA/GCAGAT 1 -- int10--------
    rs348155601,2
    C,--225328(+) GCTAAG/-GGATG 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1833342241,2
    --225379(+) CTGTCA/GGGTCT 1 -- int10--------
    rs1887910581,2
    --225382(+) TCGGGC/TCTCGC 1 -- int10--------
    rs1916433861,2
    --225385(+) GGTCTC/GGCTGC 1 -- int10--------
    rs1841511311,2
    --225425(+) GTCACC/TGTGTG 1 -- int10--------
    rs1864727471,2
    --225427(+) CACTGC/TGTGAG 1 -- int10--------
    rs100602591,2
    C,F,A,--225437(+) AAAGAT/CAGATG 1 -- int16Minor allele frequency- C:0.40WA NA CSA 246
    rs1913186151,2
    C,--225493(+) TTGGCA/GCTCCT 1 -- int10--------
    rs100584281,2
    C,F,H,--225497(+) CTATTA/GCCGGA 1 -- int111Minor allele frequency- G:0.23NS EA WA NA CSA 764
    rs801779131,2
    F,--225510(+) ATGGAG/AGGGGC 1 -- int11Minor allele frequency- A:0.03WA 118
    rs1855559411,2
    C,F,--225515(+) GTAAGG/TAGTGG 1 -- int11Minor allele frequency- T:0.01EU 1081
    rs1904773161,2
    --225629(+) GACCAA/GGATGC 2 Q syn10--------
    rs2014538891,2
    --225662(+) GCCCCC/TGCCGC 2 P syn10--------
    rs2005654891,2
    --225686(+) ATGGGC/TGGGAG 1 -- int10--------
    rs1932834681,2
    C,F,--225697(+) GCTCTG/CGGTGT 1 -- int11Minor allele frequency- C:0.01EU 1307
    rs354643691,2
    C,F,--225709(+) CTCGTG/AGTCTG 1 -- int16Minor allele frequency- A:0.03EU WA 1819
    rs1491012591,2
    --225739(+) CTGGAA/GAAAAA 1 -- int10--------
    rs125200591,2
    C,H,--225768(+) ATGTGG/CCAGCC 1 -- int18Minor allele frequency- C:0.33NA WA EA 368
    rs1150373351,2
    --225773(+) GCAGCC/TAAAAG 1 -- int10--------
    rs1851139451,2
    --225873(+) GTTGAC/TATTTT 1 -- int10--------
    rs1892434891,2
    C,--225970(+) GTTAAA/GGTTTT 1 -- int10--------
    rs68736781,2
    C,F,A,--226031(+) TCCCTC/TTCTTT 1 -- int1 trp31Minor allele frequency- T:0.28WA 118
    rs68736791,2
    C,F,A,--226033(+) CCTCTC/TTTTTT 1 -- int1 trp31Minor allele frequency- T:0.29WA 118
    rs1812787591,2
    --226057(+) CGTGCA/GTTTGG 2 A syn10--------
    rs68867491,2
    C,F,--226067(+) TCTGTT/CGCTTC 1 -- int14Minor allele frequency- C:0.38NA WA 124
    rs68738341,2
    C,F,--226075(+) TTCGGC/GTGGAG 1 -- int14Minor allele frequency- G:0.36NA WA 124
    rs617333441,2
    C,F,--226090(+) AAGGGC/TGGGCA 2 G syn13Minor allele frequency- T:0.01NS NA EU 5949
    rs1482460731,2
    C,--226091(+) AGGGCA/GGGCAG 2 R G mis10--------
    rs1996180591,2
    --226099(+) CAGGCC/TCATCG 2 A syn10--------
    rs1398814151,2
    F--226104(+) CCATCG/AGTGCT 2 /Q /R mis11Minor allele frequency- A:0.00NA 4552
    rs68738441,2
    C,--226110(+) TGCAAC/TCTCTG 1 -- int12Minor allele frequency- T:0.25NA WA 4
    rs65550551,2
    C,F,A,H,--226160(+) ATGGAA/CGGGTA 2 R syn123Minor allele frequency- C:0.26EU NS EA WA NA CSA 8319
    rs68780301,2
    C,A,--226177(+) GCACCT/CGCCAT 1 -- int12Minor allele frequency- C:0.25WA CSA 4
    rs1857297481,2
    --226280(+) ACAGAC/GAACAG 1 -- int10--------
    rs1379828341,2
    --226290(+) GCAGCA/GTGGGG 1 -- int10--------
    rs68782371,2
    C,A,--226294(+) AAGTGG/CTGAGA 1 -- int12Minor allele frequency- C:0.25NA WA 4
    rs1434218111,2
    --226297(+) GGGGCA/GCATGC 1 -- int10--------
    rs1881392871,2
    --226314(+) TGTGGA/GTGTGA 1 -- int10--------
    rs65550591,2
    C,F,H,--226453(+) CAAGAA/GCAGAG 1 -- int123Minor allele frequency- G:0.40NS EA NA WA CSA 2348
    rs1471287171,2
    --226549(+) TGAGAA/CCAGCC 1 -- int10--------
    rs1383482231,2
    --226583(+) CTCTAC/TAAAAA 1 -- int10--------
    rs347798901,2
    C,F,--226584(+) AGCATC/TGAAGA 2 I syn13Minor allele frequency- T:0.00EU NA 5957
    rs1809457841,2
    --226599(+) AAAATC/TAGCTG 1 -- int10--------
    rs1861936711,2
    --226698(+) GCCATA/GTTCGT 1 -- int10--------
    rs1919091171,2
    --226729(+) GCAACA/GGGAGA 1 -- int10--------
    rs1842100051,2
    --226773(+) GTGCGA/GTGGCT 1 -- int10--------
    rs1116861871,2
    --226815(+) TGGCTG/AATTTT 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1858516171,2
    --226961(+) ATGGCA/GTGAAC 1 -- int10--------
    rs1905143171,2
    --227148(+) TGAGAC/TGGAGT 1 -- int10--------
    rs1823937561,2
    --227156(+) AGTCTC/TACTCT 1 -- int10--------
    rs1139458461,2
    --227157(+)