WormBase Tree Display for Variation: WBVar00088153
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WBVar00088153 | Evidence | Paper_evidence | WBPaper00005582 | ||
---|---|---|---|---|---|
Name | Public_name | ju67 | |||
Other_name (13) | |||||
HGVSg | CHROMOSOME_IV:g.5499259C>T | ||||
Sequence_details | SMap | S_parent | Sequence | B0273 | |
Flanking_sequences | tgatggaggatggagttcatggagtgattg | agtgcttgctcttcgagttgtcatcggtat | |||
Mapping_target | B0273 | ||||
Type_of_mutation | Substitution | g | a | ||
SeqStatus | Sequenced | ||||
Variation_type | Allele | ||||
Origin | Species | Caenorhabditis elegans | |||
Laboratory | CZ | ||||
Status | Live | ||||
Affects | Gene | WBGene00006745 | |||
Transcript | B0273.4f.1 | VEP_consequence | stop_gained | ||
VEP_impact | HIGH | ||||
HGVSc | B0273.4f.1:c.63G>A | ||||
HGVSp | CE49300:p.Trp21Ter | ||||
cDNA_position | 63 | ||||
CDS_position | 63 | ||||
Protein_position | 21 | ||||
Exon_number | 1/4 | ||||
Codon_change | tgG/tgA | ||||
Amino_acid_change | W/* | ||||
B0273.4e.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | B0273.4e.1:c.348G>A | ||||
HGVSp | CE49455:p.Trp116Ter | ||||
cDNA_position | 348 | ||||
CDS_position | 348 | ||||
Protein_position | 116 | ||||
Exon_number | 2/5 | ||||
Codon_change | tgG/tgA | ||||
Amino_acid_change | W/* | ||||
B0273.4c.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | B0273.4c.1:c.933G>A | ||||
HGVSp | CE16791:p.Trp311Ter | ||||
cDNA_position | 933 | ||||
CDS_position | 933 | ||||
Protein_position | 311 | ||||
Exon_number | 6/10 | ||||
Codon_change | tgG/tgA | ||||
Amino_acid_change | W/* | ||||
B0273.4a.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | B0273.4a.1:c.849G>A | ||||
HGVSp | CE16790:p.Trp283Ter | ||||
cDNA_position | 851 | ||||
CDS_position | 849 | ||||
Protein_position | 283 | ||||
Exon_number | 6/10 | ||||
Codon_change | tgG/tgA | ||||
Amino_acid_change | W/* | ||||
B0273.4d.2 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | B0273.4d.2:c.525G>A | ||||
HGVSp | CE49241:p.Trp175Ter | ||||
cDNA_position | 529 | ||||
CDS_position | 525 | ||||
Protein_position | 175 | ||||
Exon_number | 4/8 | ||||
Codon_change | tgG/tgA | ||||
Amino_acid_change | W/* | ||||
B0273.4b.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | B0273.4b.1:c.849G>A | ||||
HGVSp | CE37693:p.Trp283Ter | ||||
cDNA_position | 849 | ||||
CDS_position | 849 | ||||
Protein_position | 283 | ||||
Exon_number | 5/6 | ||||
Codon_change | tgG/tgA | ||||
Amino_acid_change | W/* | ||||
B0273.4d.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | B0273.4d.1:c.525G>A | ||||
HGVSp | CE49241:p.Trp175Ter | ||||
cDNA_position | 728 | ||||
CDS_position | 525 | ||||
Protein_position | 175 | ||||
Exon_number | 5/9 | ||||
Codon_change | tgG/tgA | ||||
Amino_acid_change | W/* | ||||
Genetics | Interpolated_map_position | IV | 1.757 | ||
Reference | WBPaper00005582 | ||||
Method | Substitution_allele |