WormBase Tree Display for Variation: WBVar01696611
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WBVar01696611 | Name | Public_name | WBVar01696611 | |||||
---|---|---|---|---|---|---|---|---|
Other_name | cewivar00393374 | |||||||
R05H10.6.1:c.2117T>A | ||||||||
CE38092:p.Leu706Gln | ||||||||
HGVSg | CHROMOSOME_II:g.14847742T>A | |||||||
Sequence_details | SMap | S_parent | Sequence | R05H10 | ||||
Flanking_sequences | TCGATGATCTAGACGATGAGATGGATCTTC | AGTCGCACTGGCTGAAAATCCAACAATCTC | ||||||
Mapping_target | R05H10 | |||||||
Source_location | 225 | CHROMOSOME_II | 14847666 | 14847666 | From_analysis | Million_mutation_project_reanalysis | ||
Type_of_mutation | Substitution | T | A | |||||
SeqStatus | Sequenced | |||||||
Variation_type | Natural_variant | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00008273 | From_analysis | Million_mutation_project_reanalysis | |||||
Laboratory | VC | |||||||
Analysis | Million_mutation_project_reanalysis | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00000399 | ||||||
Transcript | R05H10.6.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | |||||||
SIFT | 0.01 | deleterious | ||||||
PolyPhen | 0.987 | probably_damaging | ||||||
HGVSc | R05H10.6.1:c.2117T>A | |||||||
HGVSp | CE38092:p.Leu706Gln | |||||||
cDNA_position | 2216 | |||||||
CDS_position | 2117 | |||||||
Protein_position | 706 | |||||||
Exon_number | 8/12 | |||||||
Codon_change | cTa/cAa | |||||||
Amino_acid_change | L/Q | |||||||
Method | WGS_Flibotte |