WormBase Tree Display for Variation: WBVar01281504
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WBVar01281504 | Evidence | Paper_evidence | WBPaper00037807 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | WBVar01281504 | |||||
Other_name | cewivar00505308 | ||||||
E01A2.5b.1:c.532C>A | |||||||
CE54551:p.Leu178Met | |||||||
CE39095:p.Leu241Met | |||||||
E01A2.5a.1:c.721C>A | |||||||
HGVSg | CHROMOSOME_I:g.4135359G>T | ||||||
Sequence_details | SMap | S_parent | Sequence | E01A2 | |||
Flanking_sequences | AAAAGTACATGTTTTCCCATCTCACTTGTCCTCCAAGTGCATCTTTTTCA | TCGGAGGTAGAACACAGGAGCAATGGGATCATCTTGGTGGGTTACTGTCT | |||||
Mapping_target | E01A2 | ||||||
Type_of_mutation | Substitution | g | T | 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 | |||||||
Laboratory | AX | ||||||
Analysis | WGS_De_Bono | ||||||
Million_mutation_project_reanalysis | |||||||
DB_info | Database | dbSNP_ss | ss | 539141634 | |||
Status | Live | ||||||
Affects | Gene | WBGene00017087 | |||||
Transcript | E01A2.5a.1 (12) | ||||||
E01A2.5b.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | ||||||
HGVSc | E01A2.5b.1:c.532C>A | ||||||
HGVSp | CE54551:p.Leu178Met | ||||||
cDNA_position | 532 | ||||||
CDS_position | 532 | ||||||
Protein_position | 178 | ||||||
Exon_number | 3/3 | ||||||
Codon_change | Ctg/Atg | ||||||
Amino_acid_change | L/M | ||||||
Reference | WBPaper00037807 | ||||||
Method | WGS_De_Bono |