WormBase Tree Display for Variation: WBVar01787158
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WBVar01787158 | Name | Public_name | WBVar01787158 | |||||
---|---|---|---|---|---|---|---|---|
Other_name | cewivar00489066 | |||||||
CE27131:p.Ile250Thr | ||||||||
F17E5.1a.1:c.749T>C | ||||||||
HGVSg | CHROMOSOME_X:g.12410565A>G | |||||||
Sequence_details | SMap | S_parent | Sequence | F17E5 | ||||
Flanking_sequences | CTTCTCACAAGGTTCCGTGCACTTTCAGAA | TATTTGGCATATATCCGTCAACCTGGAAAA | ||||||
Mapping_target | F17E5 | |||||||
Source_location | 225 | CHROMOSOME_X | 12410497 | 12410497 | From_analysis | Million_mutation_project_reanalysis | ||
Type_of_mutation | Substitution | A | G | |||||
SeqStatus | Sequenced | |||||||
Variation_type | Natural_variant | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00022883 | From_analysis | Million_mutation_project_reanalysis | |||||
WBStrain00022886 | From_analysis | Million_mutation_project_reanalysis | ||||||
WBStrain00022887 | From_analysis | Million_mutation_project_reanalysis | ||||||
WBStrain00023192 | From_analysis | Million_mutation_project_reanalysis | ||||||
Laboratory | VC | |||||||
Analysis | Million_mutation_project_reanalysis | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00002991 | ||||||
Transcript | F17E5.1a.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | |||||||
SIFT | 0 | deleterious_low_confidence | ||||||
PolyPhen | 0.977 | probably_damaging | ||||||
HGVSc | F17E5.1a.1:c.749T>C | |||||||
HGVSp | CE27131:p.Ile250Thr | |||||||
cDNA_position | 765 | |||||||
CDS_position | 749 | |||||||
Protein_position | 250 | |||||||
Exon_number | 8/26 | |||||||
Codon_change | aTt/aCt | |||||||
Amino_acid_change | I/T | |||||||
Method | WGS_Flibotte |