WormBase Tree Display for Variation: WBVar00146545

WBVar00146545 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h353
    Other_name: F28B3.8.2:c.280A>T
      CE30523:p.Arg94Ter
      F28B3.8.1:c.280A>T
    HGVSg: CHROMOSOME_I:g.4925817T>A
  Sequence_details: SMap: S_parent: Sequence: F28B3
    Flanking_sequences: GTTCCCAATGTTCCGGTCACATTCTGCTTTACCTGTTCTC GACTTCAGCCGTCAATTGTAGCCATCTGAAAATCAATTTT
    Mapping_target: CHROMOSOME_I
    Source_location: 200 CHROMOSOME_I 4925818 4925818
    Type_of_mutation: Substitution: T A
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023767
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00002075
    Transcript: F28B3.8.2 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F28B3.8.2:c.280A>T
        HGVSp: CE30523:p.Arg94Ter
        cDNA_position: 376
        CDS_position: 280
        Protein_position: 94
        Exon_number: 5/17
        Codon_change: Aga/Tga
        Amino_acid_change: R/*
      F28B3.8.1 VEP_consequence: stop_gained
        VEP_impact: HIGH
        HGVSc: F28B3.8.1:c.280A>T
        HGVSp: CE30523:p.Arg94Ter
        cDNA_position: 318
        CDS_position: 280
        Protein_position: 94
        Exon_number: 4/16
        Codon_change: Aga/Tga
        Amino_acid_change: R/*
  Genetics: Interpolated_map_position: I -0.573038
  Description: Phenotype: WBPhenotype:0000057 Paper_evidence: WBPaper00003985
        Curator_confirmed: WBPerson712
      WBPhenotype:0000062 Paper_evidence: WBPaper00040589
        Person_evidence: WBPerson261
        Curator_confirmed: WBPerson712
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: Substitution_allele