WormBase Tree Display for Variation: WBVar01754729
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WBVar01754729 | Name | Public_name | WBVar01754729 | |||||
---|---|---|---|---|---|---|---|---|
Other_name | cewivar00454312 | |||||||
CE50728:p.Leu195Ser | ||||||||
CE43551:p.Leu373Ser | ||||||||
F53H2.1a.1:c.1118T>C | ||||||||
F53H2.1b.1:c.584T>C | ||||||||
HGVSg | CHROMOSOME_V:g.20390492T>C | |||||||
Sequence_details | SMap | S_parent | Sequence | F53H2 | ||||
Flanking_sequences | AAACAACACATCATGAAAACACAGAACATT | AAAAAGTCGTGTTTGTAAAATCAATGTAAA | ||||||
Mapping_target | F53H2 | |||||||
Source_location | 225 | CHROMOSOME_V | 20390461 | 20390461 | From_analysis | Million_mutation_project_reanalysis | ||
Type_of_mutation | Substitution | T | C | |||||
SeqStatus | Sequenced | |||||||
Variation_type | Natural_variant | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00023139 | From_analysis | Million_mutation_project_reanalysis | |||||
WBStrain00027648 | From_analysis | Million_mutation_project_reanalysis | ||||||
WBStrain00027660 | From_analysis | Million_mutation_project_reanalysis | ||||||
WBStrain00027662 | From_analysis | Million_mutation_project_reanalysis | ||||||
WBStrain00031113 | From_analysis | Million_mutation_project_reanalysis | ||||||
Laboratory | VC | |||||||
Analysis | Million_mutation_project_reanalysis | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00010004 | ||||||
Transcript | F53H2.1a.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | |||||||
HGVSc | F53H2.1a.1:c.1118T>C | |||||||
HGVSp | CE43551:p.Leu373Ser | |||||||
cDNA_position | 1118 | |||||||
CDS_position | 1118 | |||||||
Protein_position | 373 | |||||||
Exon_number | 11/22 | |||||||
Codon_change | tTa/tCa | |||||||
Amino_acid_change | L/S | |||||||
F53H2.1b.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | F53H2.1b.1:c.584T>C | |||||||
HGVSp | CE50728:p.Leu195Ser | |||||||
cDNA_position | 584 | |||||||
CDS_position | 584 | |||||||
Protein_position | 195 | |||||||
Exon_number | 6/17 | |||||||
Codon_change | tTa/tCa | |||||||
Amino_acid_change | L/S | |||||||
Method | WGS_Flibotte |