WormBase Tree Display for Variation: WBVar02131138

WBVar02131138 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h7578
    Other_name: CE32970:p.Glu504=
      CE41852:p.Glu20=
      Y48B6A.6b.1:c.60G>A
      Y48B6A.6a.1:c.1512G>A
      Y48B6A.6a.2:c.1512G>A
    HGVSg: CHROMOSOME_II:g.14184238G>A
  Sequence_details: SMap: S_parent: Sequence: Y48B6A
    Flanking_sequences: AACCGGTTGAGACGGCTCCAGCTCCCGTTGATGAAGCCGA CTTAATGATGCATTGGATAGAAGGAATAAAATTAATGAAG
    Mapping_target: CHROMOSOME_II
    Source_location: 200 CHROMOSOME_II 14184142 14184142
    Type_of_mutation: Substitution: G A
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023700
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00012980
    Transcript: Y48B6A.6b.1 VEP_consequence: synonymous_variant
        VEP_impact: LOW
        HGVSc: Y48B6A.6b.1:c.60G>A
        HGVSp: CE41852:p.Glu20=
        cDNA_position: 60
        CDS_position: 60
        Protein_position: 20
        Exon_number: 1/4
        Codon_change: gaG/gaA
        Amino_acid_change: E
      Y48B6A.6a.1 VEP_consequence: synonymous_variant
        VEP_impact: LOW
        HGVSc: Y48B6A.6a.1:c.1512G>A
        HGVSp: CE32970:p.Glu504=
        cDNA_position: 1518
        CDS_position: 1512
        Protein_position: 504
        Exon_number: 6/10
        Codon_change: gaG/gaA
        Amino_acid_change: E
      Y48B6A.6a.2 VEP_consequence: synonymous_variant
        VEP_impact: LOW
        HGVSc: Y48B6A.6a.2:c.1512G>A
        HGVSp: CE32970:p.Glu504=
        cDNA_position: 1665
        CDS_position: 1512
        Protein_position: 504
        Exon_number: 7/11
        Codon_change: gaG/gaA
        Amino_acid_change: E
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: WGS_Rose