WormBase Tree Display for Variation: WBVar00142924
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WBVar00142924 | Evidence | Paper_evidence | WBPaper00025184 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | e30 | ||||||
Other_name (12) | ||||||||
HGVSg | CHROMOSOME_V:g.11908351G>A | |||||||
Sequence_details | SMap | S_parent | Sequence | R31 | ||||
Flanking_sequences | caagaagcaggaagcactcagaaccgcatg | aacacactgtgtgaatacatcgaagcacgt | ||||||
Mapping_target | R31 | |||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00025184 | |||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain (14) | ||||||||
Laboratory | CB | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00004855 | ||||||
Transcript | R31.1e.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | |||||||
HGVSc | R31.1e.1:c.5889G>A | |||||||
HGVSp | CE52987:p.Trp1963Ter | |||||||
cDNA_position | 5889 | |||||||
CDS_position | 5889 | |||||||
Protein_position | 1963 | |||||||
Exon_number | 8/17 | |||||||
Codon_change | tgG/tgA | |||||||
Amino_acid_change | W/* | |||||||
R31.1a.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | |||||||
HGVSc | R31.1a.1:c.5889G>A | |||||||
HGVSp | CE41581:p.Trp1963Ter | |||||||
cDNA_position | 6004 | |||||||
CDS_position | 5889 | |||||||
Protein_position | 1963 | |||||||
Exon_number | 9/20 | |||||||
Codon_change | tgG/tgA | |||||||
Amino_acid_change | W/* | |||||||
R31.1c.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | |||||||
HGVSc | R31.1c.1:c.5331G>A | |||||||
HGVSp | CE46009:p.Trp1777Ter | |||||||
cDNA_position | 5331 | |||||||
CDS_position | 5331 | |||||||
Protein_position | 1777 | |||||||
Exon_number | 5/15 | |||||||
Codon_change | tgG/tgA | |||||||
Amino_acid_change | W/* | |||||||
R31.1b.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | |||||||
HGVSc | R31.1b.1:c.5580G>A | |||||||
HGVSp | CE27773:p.Trp1860Ter | |||||||
cDNA_position | 5580 | |||||||
CDS_position | 5580 | |||||||
Protein_position | 1860 | |||||||
Exon_number | 7/17 | |||||||
Codon_change | tgG/tgA | |||||||
Amino_acid_change | W/* | |||||||
R31.1d.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | |||||||
HGVSc | R31.1d.1:c.5580G>A | |||||||
HGVSp | CE46252:p.Trp1860Ter | |||||||
cDNA_position | 5822 | |||||||
CDS_position | 5580 | |||||||
Protein_position | 1860 | |||||||
Exon_number | 8/18 | |||||||
Codon_change | tgG/tgA | |||||||
Amino_acid_change | W/* | |||||||
R31.1f.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | |||||||
HGVSc | R31.1f.1:c.5331G>A | |||||||
HGVSp | CE53064:p.Trp1777Ter | |||||||
cDNA_position | 5331 | |||||||
CDS_position | 5331 | |||||||
Protein_position | 1777 | |||||||
Exon_number | 5/14 | |||||||
Codon_change | tgG/tgA | |||||||
Amino_acid_change | W/* | |||||||
Interactor | WBInteraction000500863 | |||||||
Genetics (2) | ||||||||
Description | Phenotype (7) | |||||||
Phenotype_not_observed | WBPhenotype:0001426 | Paper_evidence | WBPaper00004883 | |||||
Curator_confirmed | WBPerson712 | |||||||
Phenotype_assay | Genotype | arIs37 | Paper_evidence | WBPaper00004883 | ||||
Curator_confirmed | WBPerson712 | |||||||
Reference (15) | ||||||||
Method | Substitution_allele |