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 | SMap | S_parent | Sequence | F54C1 | |||
Flanking_sequences | ctatgcggaagacgtaagagacatttgacc | gactcacttcaagatggccgtgtttttcag | |||||
Mapping_target | F54C1 | ||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00005923 | ||
SeqStatus | Sequenced | ||||||
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 |