WormBase Tree Display for Variation: WBVar00091605

WBVar00091605 Evidence: Paper_evidence: WBPaper00006086
  Name: Public_name: ok307
    Other_name: CE17456:p.Ile112_Ter197delextTer?
      C24G6.1.1:c.334_591del
    HGVSg: CHROMOSOME_V:g.5537198_5537498del
  Sequence_details: SMap: S_parent: Sequence: C24G6
    Flanking_sequences: acaatggagctggcaaattcaatcgaacgt aaacttctggatttggttgaaacgctcgag
    Mapping_target: C24G6
    Type_of_mutation: Deletion
    PCR_product: ok307_external
      ok307_internal
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00000287
    Laboratory: RB
    Person: WBPerson46
    KO_consortium_allele
    Status: Live
  Affects: Gene: WBGene00006376
    Transcript: C24G6.1.1 VEP_consequence: splice_acceptor_variant,splice_donor_variant,stop_lost,inframe_deletion,intron_variant
        VEP_impact: HIGH
        HGVSc: C24G6.1.1:c.334_591del
        HGVSp: CE17456:p.Ile112_Ter197delextTer?
        cDNA_position: 616-873
        CDS_position: 334-591
        Protein_position: 112-197
        Intron_number: 4/5
        Exon_number: 4-5/6
        Codon_change: ATCGCAAATATGGCATTAGCCGAAAGTAAACTCAGCGACCAAATGGAGAAACAGTCAAAGAAGCTCATTTCTCTAGAAGGAAAAACAAAAGAGCTCGTCGAGAAAGCCAACAATTGGTCTAAAACACTCGAAAATGTAAGAATTAGATAATTAGTAAATATATATTTAAAAATTTCAGCGCGTTGACGCCAGATCGCATCATTCCACTTGTCTCAATGATGTTCAGGCGGCTATAAAAATAATCAATAATGCAAAAATCAACAACGATGGGTTCTCGGAAGATTTCTCTGCTCATTACGAC/-
        Amino_acid_change: IANMALAESKLSDQMEKQSKKLISLEGKTKELVEKANNWSKTLENVRIR*LVNIYLKISAR*RQIASFHLSQ*CSGGYKNNQ*CKNQQRWVLGRFLCSLRX/-
    Interactor: WBInteraction000051941
      WBInteraction000051942
      WBInteraction000504101
  Genetics: Mapping_data: In_multi_point: 4717
  Description: Phenotype: WBPhenotype:0000775 Paper_evidence: WBPaper00037842
        Curator_confirmed: WBPerson1950
      WBPhenotype:0001370 Paper_evidence: WBPaper00039957
        Curator_confirmed: WBPerson712
        Remark: Western blot analysis of a wild type precipitate using a SYP-1 antibody revealed a pull down of both SYP-2 and SYP-1. Control IPs with lysates from null mutants did not reveal similar results. Paper_evidence: WBPaper00039957
            Curator_confirmed: WBPerson712
  Reference: WBPaper00039957
    WBPaper00006086
    WBPaper00037842
    WBPaper00065003
  Remark: ok307 is a I(112)-D(197) deletion Paper_evidence: WBPaper00006086
    Sequenced by the C. elegans Gene Knockout Consortium Paper_evidence: WBPaper00041807
  Method: KO_consortium_allele