WormBase Tree Display for Variation: WBVar01473944

WBVar01473944 Name: Public_name: yb1697
    Other_name: C17D12.2b.1:c.200-1G>A
      C17D12.2a.1:c.200-1G>A
    HGVSg: CHROMOSOME_I:g.11594209G>A
  Sequence_details: SMap: S_parent: Sequence: C17D12
    Flanking_sequences: cacggttcattagaaattgaaatgcattca GTATGCACAAAGGCTGCGCATTTCTCACCT
    Mapping_target: C17D12
    Type_of_mutation: Substitution: g a
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023510
    Laboratory: KH
    Status: Live
  Affects: Gene: WBGene00305276
      WBGene00006807
    Transcript: C17D12.2b.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: C17D12.2b.1:c.200-1G>A
        Intron_number: 2/7
      C17D12.20
      C17D12.2a.1 VEP_consequence: splice_acceptor_variant
        VEP_impact: HIGH
        HGVSc: C17D12.2a.1:c.200-1G>A
        Intron_number: 3/10
  Isolation: Mutagen: EMS
  Genetics: Interpolated_map_position: I 9.27986
  Description: Phenotype: WBPhenotype:0000643 Person_evidence: WBPerson1686
        Curator_confirmed: WBPerson712
        Remark: Unc Person_evidence: WBPerson1686
            Curator_confirmed: WBPerson712
        Penetrance: Complete: Person_evidence: WBPerson1686
              Curator_confirmed: WBPerson712
        Recessive: Person_evidence: WBPerson1686
          Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: KH1697 unc-75 (yb1695) I; ybIs1622 [rgef-1::unc-32E7a-EGFP rgef-1::unc-32E7b-mRFP lin-15(+)]/+ Person_evidence: WBPerson1686
              Curator_confirmed: WBPerson712
      WBPhenotype:0002119 Person_evidence: WBPerson1686
        Curator_confirmed: WBPerson712
        Remark: The ybIs1622 unc-32 exon 7 alternative splicing reporter expresses Green in the wild-type background but Red/Green in this mutant. Person_evidence: WBPerson1686
            Curator_confirmed: WBPerson712
        Penetrance: Complete: Person_evidence: WBPerson1686
              Curator_confirmed: WBPerson712
        Recessive: Person_evidence: WBPerson1686
          Curator_confirmed: WBPerson712
        Phenotype_assay: Genotype: KH1697 unc-75 (yb1695) I; ybIs1622 [rgef-1::unc-32E7a-EGFP rgef-1::unc-32E7b-mRFP lin-15(+)]/+ Person_evidence: WBPerson1686
              Curator_confirmed: WBPerson712
  Method: Substitution_allele