WormBase Tree Display for Variation: WBVar02149866
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WBVar02149866 | Evidence | Person_evidence | WBPerson31088 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | mg584 | ||||||
Other_name | CE30108:p.Pro117Ser | |||||||
R12B2.5b.2:c.340_342delinsAGT | ||||||||
CE25078:p.Pro114Ser | ||||||||
R12B2.5a.3:c.349_351delinsAGT | ||||||||
R12B2.5a.2:c.349_351delinsAGT | ||||||||
R12B2.5a.1:c.349_351delinsAGT | ||||||||
R12B2.5b.1:c.340_342delinsAGT | ||||||||
HGVSg | CHROMOSOME_III:g.5832714_5832716delinsACT | |||||||
Sequence_details | SMap | S_parent | Sequence | R12B2 | ||||
Flanking_sequences | aacaggtggatttcttgcctgagctgatgt | ttgtggatctggaggcacaggagctcgata | ||||||
Mapping_target | R12B2 | |||||||
Type_of_mutation | Substitution | TGG | ACT | |||||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00007967 | |||||||
Laboratory | GR | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00007016 | ||||||
Transcript | R12B2.5a.2 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | |||||||
HGVSc | R12B2.5a.2:c.349_351delinsAGT | |||||||
HGVSp | CE30108:p.Pro117Ser | |||||||
cDNA_position | 619-621 | |||||||
CDS_position | 349-351 | |||||||
Protein_position | 117 | |||||||
Exon_number | 5/10 | |||||||
Codon_change | CCA/AGT | |||||||
Amino_acid_change | P/S | |||||||
R12B2.5b.2 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | R12B2.5b.2:c.340_342delinsAGT | |||||||
HGVSp | CE25078:p.Pro114Ser | |||||||
cDNA_position | 605-607 | |||||||
CDS_position | 340-342 | |||||||
Protein_position | 114 | |||||||
Exon_number | 5/9 | |||||||
Codon_change | CCA/AGT | |||||||
Amino_acid_change | P/S | |||||||
R12B2.5a.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | R12B2.5a.1:c.349_351delinsAGT | |||||||
HGVSp | CE30108:p.Pro117Ser | |||||||
cDNA_position | 613-615 | |||||||
CDS_position | 349-351 | |||||||
Protein_position | 117 | |||||||
Exon_number | 5/9 | |||||||
Codon_change | CCA/AGT | |||||||
Amino_acid_change | P/S | |||||||
R12B2.5b.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | R12B2.5b.1:c.340_342delinsAGT | |||||||
HGVSp | CE25078:p.Pro114Ser | |||||||
cDNA_position | 604-606 | |||||||
CDS_position | 340-342 | |||||||
Protein_position | 114 | |||||||
Exon_number | 5/10 | |||||||
Codon_change | CCA/AGT | |||||||
Amino_acid_change | P/S | |||||||
R12B2.5a.3 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
HGVSc | R12B2.5a.3:c.349_351delinsAGT | |||||||
HGVSp | CE30108:p.Pro117Ser | |||||||
cDNA_position | 576-578 | |||||||
CDS_position | 349-351 | |||||||
Protein_position | 117 | |||||||
Exon_number | 5/10 | |||||||
Codon_change | CCA/AGT | |||||||
Amino_acid_change | P/S | |||||||
Genetics | Interpolated_map_position | III | -1.43928 | |||||
Description | Phenotype | WBPhenotype:0001236 | Paper_evidence | WBPaper00056290 | ||||
Curator_confirmed | WBPerson44544 | |||||||
Remark | expression of mgIs73[cyp-14A4p::gfp] transgene increased | Paper_evidence | WBPaper00056290 | |||||
Curator_confirmed | WBPerson44544 | |||||||
Phenotype_assay | Genotype | mgIs73[cyp-14A4p::gfp] | Paper_evidence | WBPaper00056290 | ||||
Curator_confirmed | WBPerson44544 | |||||||
Reference | WBPaper00056290 | |||||||
Remark | alt_det = CCA to AGT | Person_evidence | WBPerson31088 | |||||
Curator_confirmed | WBPerson51134 | |||||||
Variation information submitted by WBPerson31088 on 2021-07-12_10:41:07 via the Allele submission form. | Curator_confirmed | WBPerson51134 | ||||||
Curated on the positive strand as TGG to ACT | Curator_confirmed | WBPerson51134 | ||||||
Method | Substitution_allele |