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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4570
    • SNVs : 3402
    • InDels : 1168
    • Last Update : 07/03/2016

    Detailed information for RetinalMD_04323






    Basic information
    locationchr1:94528873-94528873 (hg19)
    gene symbolABCA4 (Reference) 
    band1p22.1
    referenceA
    observedG
    diseasecone and cone-rod dystrophy
    PubMed ID26103963
    ethnicityFrench
    descriptionABCA4:NM_000350:exon12:c.T1555C:p.C519R (Reference) 
    MGI
    MGI ID109424
    MGI phenotypevision/eye phenotype
    OMIM
    OMIM ID601691
    OMIM phenotypeStargardt disease 1
    Genome feature annotation
    segmental duplicationconserved TFBSEncode TFBSDNase I hypersensitivity sites
    wgEncodeBroadHmm feature annotation
    Gm12878H1hescHepg2HmecHsmmHuvecK562NhekNhlf
    Name=8_Insulator
    ESP and CG annotation
    ESP5400ESP5400_aaESP5400_eaESP6500ESP6500_aaESP6500_eaESP6500siESP6500si_aaESP6500si_eaCG46CG69
    ------
    dbSNP annotation
    snp137snp135snp132snp131snp130snp129snp137_NonFlaggedsnp135_NonFlaggedsnp132_NonFlaggedsnp131_NonFlaggedsnp130_NonFlagged
    1000 genomes annotation
    2012apr2012apr_eur2012apr_amr2012apr_asn2012apr_afr2012feb2011may2010nov
    Functional prediction
    SIFTSIFT predictPolyPhen2PolyPhen2 predictphyloPphyloP predictLRTLRT predictMTMT predictGERP++GERP++ predictGERP++elemGERP++gt2
    0.02D1D0.999D0D1D-4.83
    Conserved and constrained region annotation
    multiz46way
    phastcons46way
    phylop46way
    RNA function annotation
    human_predictions_S_C_aug2010human_predictions_S_0_aug2010human_predictions_0_C_aug2010human_predictions_0_0_aug2010circRNAs sebastian memczakconserved functional RNA