WormBase Tree Display for Variation: WBVar02127091

WBVar02127091 Evidence: Paper_evidence: WBPaper00045317
  Name: Public_name: h10817
    Other_name (11)
    HGVSg: CHROMOSOME_I:g.4189335G>A
  Sequence_details: SMap: S_parent: Sequence: C18E3
    Flanking_sequences: GCTGGTGGATACGTGTATGTTCATCGCGATAGGGATGTTTTCGGATCCATCATCAAGGATACTCTCTTGGCAATCTTCAAAACATGCACTGAGCAGCGCGGAAGACCAGATGATATCCTTTTGTATTTCAATGGAGTTTCCGAAGGTCAATTCTCAATGATCAACGAGGAATTCAGTGCCCGAGTGAAGGAGGCGTGCATGGCATTCCAAAAGGAGGGAACCCCGCCATTCAGACCACACATCACCATCATCGCCTCATCAAAGGCTCACAACGAGCGTCTGTACAAATCCGACAAGGGACGTATTGTTAATTTGGAGCC GGTACGGTCGTGGACCATACCATTGTGAGCAATGTCTACACTGAGTGGTATCATGCCTCAGCTGTTGCTCGCCAAGGAACTGCAAAGGCTACCAAGTTCACTCTCATCTTCACCACTAAAGCAGGCCCACAAGCTGAGCCATTGTGGCATCTCGAGCAATTGACCAATGATCTTTGCTACGATCATCAGATTGTCTTCCATCCGGTCGGACTTCCCGTCCCACTGTACATTGCTGATCGTTACAGTCAACGTGGAGCAATGGTTCTTGCCGCCAATCAAGGGTAAGTGACAGTAAAATGTATACGACATCTCATTTATTATTTTCAGTCCAATCTACAATGAAGGACAAATCGATCTCGCGGCTACCAACAGTGCATATGGCTACGGAGAGAAGAAGCTCTTCACCACTCGTTTCAATGCATAATTATCTGTACTCCTCCGTTTCTTTTACTTGGCTGTATAATGTTTTATTTCCGTAAACCCAGAATACTTTCGCTATGATTGTATATTTTTTAGCATTTGGTCATTGTAATTTGTAATTATTGTCGGAATGGATAAAATGATTTAAGAATAAAATGCATCGCTTCTTGGACAATTCCTGTTGATAATCTCATTCTGATATATTTTCAAAAGTTTTGGT
    Mapping_target: CHROMOSOME_I
    Source_location: 200 CHROMOSOME_I 4189337 4189337
    Type_of_mutation: Substitution: G A
    SeqStatus: Sequenced
  Variation_type: Allele
  Origin: Species: Caenorhabditis elegans
    Strain: WBStrain00023758
    Laboratory: KR
    Analysis: WGS_Rose
    Status: Live
  Affects: Gene: WBGene00004093
    Transcript: C18E3.7b.2 VEP_consequence: 3_prime_UTR_variant
        VEP_impact: MODIFIER
        HGVSc: C18E3.7b.2:c.*2136G>A
        cDNA_position: 2314
        Exon_number: 10/10
      C18E3.7c.1 VEP_consequence: synonymous_variant
        VEP_impact: LOW
        HGVSc: C18E3.7c.1:c.2286G>A
        HGVSp: CE33363:p.Pro762=
        cDNA_position: 2301
        CDS_position: 2286
        Protein_position: 762
        Exon_number: 10/12
        Codon_change: ccG/ccA
        Amino_acid_change: P
      C18E3.7b.3 VEP_consequence: 3_prime_UTR_variant
        VEP_impact: MODIFIER
        HGVSc: C18E3.7b.3:c.*2090G>A
        cDNA_position: 2324
        Exon_number: 12/13
      C18E3.7d.2 VEP_consequence: synonymous_variant
        VEP_impact: LOW
        HGVSc: C18E3.7d.2:c.1716G>A
        HGVSp: CE08316:p.Pro572=
        cDNA_position: 2328
        CDS_position: 1716
        Protein_position: 572
        Exon_number: 10/12
        Codon_change: ccG/ccA
        Amino_acid_change: P
      C18E3.7b.1 VEP_consequence: 3_prime_UTR_variant
        VEP_impact: MODIFIER
        HGVSc: C18E3.7b.1:c.*2090G>A
        cDNA_position: 2268
        Exon_number: 11/12
      C18E3.7d.3 VEP_consequence: synonymous_variant
        VEP_impact: LOW
        HGVSc: C18E3.7d.3:c.1716G>A
        HGVSp: CE08316:p.Pro572=
        cDNA_position: 2358
        CDS_position: 1716
        Protein_position: 572
        Exon_number: 9/11
        Codon_change: ccG/ccA
        Amino_acid_change: P
      C18E3.7b.4 VEP_consequence: 3_prime_UTR_variant
        VEP_impact: MODIFIER
        HGVSc: C18E3.7b.4:c.*2136G>A
        cDNA_position: 2316
        Exon_number: 10/11
      C18E3.7d.1 VEP_consequence: synonymous_variant
        VEP_impact: LOW
        HGVSc: C18E3.7d.1:c.1716G>A
        HGVSp: CE08316:p.Pro572=
        cDNA_position: 2359
        CDS_position: 1716
        Protein_position: 572
        Exon_number: 11/13
        Codon_change: ccG/ccA
        Amino_acid_change: P
      C18E3.7d.4 VEP_consequence: synonymous_variant
        VEP_impact: LOW
        HGVSc: C18E3.7d.4:c.1716G>A
        HGVSp: CE08316:p.Pro572=
        cDNA_position: 1883
        CDS_position: 1716
        Protein_position: 572
        Exon_number: 8/9
        Codon_change: ccG/ccA
        Amino_acid_change: P
  Reference: WBPaper00040589
    WBPaper00000975
    WBPaper00003985
    WBPaper00000699
    WBPaper00045317
  Method: WGS_Rose