WormBase Tree Display for Variation: WBVar00143949

WBVar00143949 Evidence: Paper_evidence: WBPaper00002847
      WBPaper00061133
  Name: Public_name: e1370
    Other_name (12)
    HGVSg: CHROMOSOME_III:g.3000442G>A
  Sequence_details: SMap: S_parent: Sequence: Y55D5A
    Flanking_sequences: ctctatgaaatggttacactcggtgctcag catatattggtttgagtaatgatgaggtgt
    Mapping_target: Y55D5A
    Type_of_mutation: Substitution: c t
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain (130)
    Laboratory: CB
      GOU
      MQD
      SHU
    Status: Live
  Affects: Gene: WBGene00000898
    Transcript: Y55D5A.5g.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y55D5A.5g.1:c.871C>T
        HGVSp: CE50631:p.Pro291Ser
        cDNA_position: 871
        CDS_position: 871
        Protein_position: 291
        Exon_number: 1/4
        Codon_change: Cca/Tca
        Amino_acid_change: P/S
      Y55D5A.5e.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y55D5A.5e.1:c.4165C>T
        HGVSp: CE50158:p.Pro1389Ser
        cDNA_position: 4165
        CDS_position: 4165
        Protein_position: 1389
        Exon_number: 12/15
        Codon_change: Cca/Tca
        Amino_acid_change: P/S
      Y55D5A.5f.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y55D5A.5f.1:c.1963C>T
        HGVSp: CE50215:p.Pro655Ser
        cDNA_position: 1963
        CDS_position: 1963
        Protein_position: 655
        Exon_number: 5/8
        Codon_change: Cca/Tca
        Amino_acid_change: P/S
      Y55D5A.5a.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y55D5A.5a.1:c.4393C>T
        HGVSp: CE46852:p.Pro1465Ser
        cDNA_position: 4491
        CDS_position: 4393
        Protein_position: 1465
        Exon_number: 15/19
        Codon_change: Cca/Tca
        Amino_acid_change: P/S
      Y55D5A.5c.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y55D5A.5c.1:c.4639C>T
        HGVSp: CE50204:p.Pro1547Ser
        cDNA_position: 4802
        CDS_position: 4639
        Protein_position: 1547
        Exon_number: 17/21
        Codon_change: Cca/Tca
        Amino_acid_change: P/S
      Y55D5A.5d.1 VEP_consequence: missense_variant
        VEP_impact: MODERATE
        HGVSc: Y55D5A.5d.1:c.4252C>T
        HGVSp: CE50312:p.Pro1418Ser
        cDNA_position: 4252
        CDS_position: 4252
        Protein_position: 1418
        Exon_number: 13/16
        Codon_change: Cca/Tca
        Amino_acid_change: P/S
    Interactor (636)
  Genetics: Interpolated_map_position: III -8.12693
    Mapping_data: In_2_point: 273
      In_multi_point: 316
        317
        860
        861
        1629
      In_pos_neg_data: 1556
        1559
        1562
        1565
        1568
        1571
        1574
        1577
        1587
        1593
  Description: Phenotype (94)
    Phenotype_not_observed (27)
  Disease_info: Models_disease: DOID:9351
    Modifies_disease: DOID:11723
    Models_disease_in_annotation: WBDOannot00001356
      WBDOannot00001432
    Modifies_disease_in_annotation: WBDOannot00000422
  Reference (201)
  Remark
  Method: Substitution_allele