WormBase Tree Display for Variation: WBVar01311925
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WBVar01311925 | Evidence | Paper_evidence | WBPaper00037807 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | WBVar01311925 | |||||
Other_name | cewivar00485878 | ||||||
CE39469:p.Leu893Ser | |||||||
C05D12.3a.1:c.2678T>C | |||||||
C05D12.3c.2:c.2678T>C | |||||||
C05D12.3c.1:c.2678T>C | |||||||
CE36974:p.Leu893Ser | |||||||
C05D12.3c.3:c.2678T>C | |||||||
HGVSg | CHROMOSOME_II:g.11429783T>C | ||||||
Sequence_details | SMap | S_parent | Sequence | C05D12 | |||
Flanking_sequences | TGACACATCTCGATACGACCAACCTATCAGCTATCAGAACACCACCATCT | AAGCCGTGACTCTTCCACATGTTCCTACAACTACATTACTCCTCAAATCA | |||||
Mapping_target | C05D12 | ||||||
Type_of_mutation | Substitution | t | C | Paper_evidence | WBPaper00037807 | ||
SeqStatus | Sequenced | ||||||
Variation_type | SNP | ||||||
Natural_variant | |||||||
Origin | Species | Caenorhabditis elegans | |||||
Strain | WBStrain00022850 | From_analysis | Million_mutation_project_reanalysis | ||||
WGS_De_Bono | |||||||
WBStrain00022886 | From_analysis | Million_mutation_project_reanalysis | |||||
WBStrain00023018 | From_analysis | Million_mutation_project_reanalysis | |||||
WBStrain00023192 | From_analysis | Million_mutation_project_reanalysis | |||||
WBStrain00023286 | From_analysis | Million_mutation_project_reanalysis | |||||
Laboratory | AX | ||||||
Analysis | WGS_De_Bono | ||||||
Million_mutation_project_reanalysis | |||||||
DB_info | Database | dbSNP_ss | ss | 539169012 | |||
Status | Live | ||||||
Affects | Gene | WBGene00014666 | |||||
Transcript | C05D12.3a.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | ||||||
HGVSc | C05D12.3a.1:c.2678T>C | ||||||
HGVSp | CE36974:p.Leu893Ser | ||||||
cDNA_position | 2690 | ||||||
CDS_position | 2678 | ||||||
Protein_position | 893 | ||||||
Exon_number | 14/16 | ||||||
Codon_change | tTa/tCa | ||||||
Amino_acid_change | L/S | ||||||
C05D12.3c.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | ||||||
HGVSc | C05D12.3c.1:c.2678T>C | ||||||
HGVSp | CE39469:p.Leu893Ser | ||||||
cDNA_position | 2693 | ||||||
CDS_position | 2678 | ||||||
Protein_position | 893 | ||||||
Exon_number | 14/18 | ||||||
Codon_change | tTa/tCa | ||||||
Amino_acid_change | L/S | ||||||
C05D12.3c.3 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | ||||||
HGVSc | C05D12.3c.3:c.2678T>C | ||||||
HGVSp | CE39469:p.Leu893Ser | ||||||
cDNA_position | 2678 | ||||||
CDS_position | 2678 | ||||||
Protein_position | 893 | ||||||
Exon_number | 13/18 | ||||||
Codon_change | tTa/tCa | ||||||
Amino_acid_change | L/S | ||||||
C05D12.3c.2 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | ||||||
HGVSc | C05D12.3c.2:c.2678T>C | ||||||
HGVSp | CE39469:p.Leu893Ser | ||||||
cDNA_position | 2692 | ||||||
CDS_position | 2678 | ||||||
Protein_position | 893 | ||||||
Exon_number | 14/17 | ||||||
Codon_change | tTa/tCa | ||||||
Amino_acid_change | L/S | ||||||
Reference | WBPaper00037807 | ||||||
Method | WGS_De_Bono |