WormBase Tree Display for Variation: WBVar00146691
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WBVar00146691 | Evidence | Paper_evidence | WBPaper00045317 | |||
---|---|---|---|---|---|---|
Name | Public_name | h816 | ||||
Other_name | Y54E10A.2.1:c.364C>T | |||||
CE39656:p.Gln122Ter | ||||||
HGVSg | CHROMOSOME_I:g.3235558C>T | |||||
Sequence_details | SMap | S_parent | Sequence | Y54E10A | ||
Flanking_sequences | ACTGGACGATGTAGTTGCTCTTTGCATGGTGGAGCATCTT | AGAAGCAGCTCATCAGTAATCATTCGTCGCCAATGGTCAG | ||||
Mapping_target | CHROMOSOME_I | |||||
Source_location | 200 | CHROMOSOME_I | 3235559 | 3235559 | ||
Type_of_mutation | Substitution | C | T | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00023886 | |||||
Laboratory | KR | |||||
Analysis | WGS_Rose | |||||
Status | Live | |||||
Affects | Gene | WBGene00003258 | ||||
Transcript | Y54E10A.2.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | |||||
HGVSc | Y54E10A.2.1:c.364C>T | |||||
HGVSp | CE39656:p.Gln122Ter | |||||
cDNA_position | 364 | |||||
CDS_position | 364 | |||||
Protein_position | 122 | |||||
Exon_number | 4/16 | |||||
Codon_change | Cag/Tag | |||||
Amino_acid_change | Q/* | |||||
Genetics | Interpolated_map_position | I | -4.45279 | |||
Description | Phenotype | WBPhenotype:0000057 | Paper_evidence | WBPaper00003985 | ||
Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | |||||
WBPhenotype:0000062 | Paper_evidence | WBPaper00040589 | ||||
Curator_confirmed | WBPerson712 | |||||
Reference | WBPaper00040589 | |||||
WBPaper00000975 | ||||||
WBPaper00003985 | ||||||
WBPaper00000699 | ||||||
WBPaper00045317 | ||||||
Method | Substitution_allele |