WormBase Tree Display for Variation: WBVar00145297
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WBVar00145297 | Evidence | Paper_evidence | WBPaper00005923 | ||
---|---|---|---|---|---|
Name | Public_name | ez12 | |||
Other_name | CE11046:p.Arg431Ter | ||||
F54C1.3b.1:c.1234C>T | |||||
F54C1.3a.2:c.1291C>T | |||||
F54C1.3a.1:c.1291C>T | |||||
CE53747:p.Arg412Ter | |||||
HGVSg | CHROMOSOME_I:g.5000307C>T | ||||
Sequence_details (5) | |||||
Variation_type | Allele | ||||
Origin | Species | Caenorhabditis elegans | |||
Laboratory | DZ | ||||
Status | Live | ||||
Affects | Gene | WBGene00003221 | |||
Transcript | F54C1.3a.1 | VEP_consequence | stop_gained | ||
VEP_impact | HIGH | ||||
HGVSc | F54C1.3a.1:c.1291C>T | ||||
HGVSp | CE11046:p.Arg431Ter | ||||
cDNA_position | 1296 | ||||
CDS_position | 1291 | ||||
Protein_position | 431 | ||||
Exon_number | 11/17 | ||||
Codon_change | Cga/Tga | ||||
Amino_acid_change | R/* | ||||
F54C1.3b.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | F54C1.3b.1:c.1234C>T | ||||
HGVSp | CE53747:p.Arg412Ter | ||||
cDNA_position | 1243 | ||||
CDS_position | 1234 | ||||
Protein_position | 412 | ||||
Exon_number | 10/16 | ||||
Codon_change | Cga/Tga | ||||
Amino_acid_change | R/* | ||||
F54C1.3a.2 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | F54C1.3a.2:c.1291C>T | ||||
HGVSp | CE11046:p.Arg431Ter | ||||
cDNA_position | 1296 | ||||
CDS_position | 1291 | ||||
Protein_position | 431 | ||||
Exon_number | 11/18 | ||||
Codon_change | Cga/Tga | ||||
Amino_acid_change | R/* | ||||
Genetics | Interpolated_map_position | I | -0.428809 | ||
Reference | WBPaper00005923 | ||||
Method | Substitution_allele |