WormBase Tree Display for Variation: WBVar01253879
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WBVar01253879 | Evidence | Paper_evidence | WBPaper00037807 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | WBVar01253879 | |||||
Other_name | cewivar00328943 | ||||||
CE38092:p.Leu1258Phe | |||||||
R05H10.6.1:c.3774A>T | |||||||
HGVSg | CHROMOSOME_II:g.14850114A>T | ||||||
Sequence_details | SMap | S_parent | Sequence | R05H10 | |||
Flanking_sequences | CTTATGACCTCAGAGGACCCAAGATCAGACACTCTGATCCAGCCGGAATT | TTTTTCATGGTACTAGGCTTCCTAGTCCTGTTGGCAATTACTCTCGCACT | |||||
Mapping_target | R05H10 | ||||||
Type_of_mutation | Substitution | a | T | Paper_evidence | WBPaper00037807 | ||
SeqStatus | Sequenced | ||||||
Variation_type | SNP | ||||||
Natural_variant | |||||||
Origin | Species | Caenorhabditis elegans | |||||
Strain | WBStrain00006629 | From_analysis | Million_mutation_project_reanalysis | ||||
WBStrain00006631 | From_analysis | Million_mutation_project_reanalysis | |||||
WBStrain00006637 | From_analysis | Million_mutation_project_reanalysis | |||||
WBStrain00006640 | From_analysis | Million_mutation_project_reanalysis | |||||
WBStrain00006642 | From_analysis | WGS_De_Bono | |||||
WBStrain00006643 | From_analysis | Million_mutation_project_reanalysis | |||||
WBStrain00006645 | From_analysis | Million_mutation_project_reanalysis | |||||
WBStrain00022878 | From_analysis | Million_mutation_project_reanalysis | |||||
WBStrain00023072 | From_analysis | Million_mutation_project_reanalysis | |||||
WBStrain00023138 | From_analysis | Million_mutation_project_reanalysis | |||||
WBStrain00023191 | From_analysis | Million_mutation_project_reanalysis | |||||
WBStrain00023286 | From_analysis | Million_mutation_project_reanalysis | |||||
WBStrain00027647 | From_analysis | Million_mutation_project_reanalysis | |||||
WBStrain00027652 | From_analysis | Million_mutation_project_reanalysis | |||||
Laboratory | AX | ||||||
Analysis | WGS_De_Bono | ||||||
Million_mutation_project_reanalysis | |||||||
DB_info | Database | dbSNP_ss | ss | 539090436 | |||
Status | Live | ||||||
Affects | Gene | WBGene00000399 | |||||
Transcript | R05H10.6.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | ||||||
SIFT | 0.2 | tolerated | |||||
PolyPhen | 0.993 | probably_damaging | |||||
HGVSc | R05H10.6.1:c.3774A>T | ||||||
HGVSp | CE38092:p.Leu1258Phe | ||||||
cDNA_position | 3873 | ||||||
CDS_position | 3774 | ||||||
Protein_position | 1258 | ||||||
Exon_number | 10/12 | ||||||
Codon_change | ttA/ttT | ||||||
Amino_acid_change | L/F | ||||||
Reference | WBPaper00037807 | ||||||
Method | WGS_De_Bono |