WormBase Tree Display for Variation: WBVar02127083
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WBVar02127083 | Evidence | Paper_evidence | WBPaper00045317 | |||
---|---|---|---|---|---|---|
Name | Public_name | h4580 | ||||
Other_name | CE18135:p.Tyr116Ter | |||||
R12E2.3.1:c.348C>G | ||||||
HGVSg | CHROMOSOME_I:g.4175767C>G | |||||
Sequence_details | SMap | S_parent | Sequence | R12E2 | ||
Flanking_sequences | TCGACATGGACTATTTGGAGAGCATGTATGGAATGTTCTA | AAGGTTGGTGAATTTTGAAATCTCGTTTTTATTTAATTTT | ||||
Mapping_target | CHROMOSOME_I | |||||
Source_location | 200 | CHROMOSOME_I | 4175768 | 4175768 | ||
Type_of_mutation | Substitution | C | G | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00023661 | |||||
Laboratory | KR | |||||
Analysis | WGS_Rose | |||||
Status | Live | |||||
Affects | Gene | WBGene00004464 | ||||
Transcript | R12E2.3.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | |||||
HGVSc | R12E2.3.1:c.348C>G | |||||
HGVSp | CE18135:p.Tyr116Ter | |||||
cDNA_position | 352 | |||||
CDS_position | 348 | |||||
Protein_position | 116 | |||||
Exon_number | 4/9 | |||||
Codon_change | taC/taG | |||||
Amino_acid_change | Y/* | |||||
Reference | WBPaper00040589 | |||||
WBPaper00000975 | ||||||
WBPaper00003985 | ||||||
WBPaper00000699 | ||||||
WBPaper00045317 | ||||||
Method | WGS_Rose |