WormBase Tree Display for Variation: WBVar00249023
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WBVar00249023 | Evidence | Paper_evidence | WBPaper00005632 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | sy622 | |||||||
Other_name | CE16058:p.Gln1698Ter | ||||||||
F47A4.2.1:c.5092C>T | |||||||||
HGVSg | CHROMOSOME_X:g.9816328G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | F47A4 | |||||
Flanking_sequences | gctaaaactgttcaatttgtaatttgtgag | aggactgggtaactcttcgaatgttccggt | |||||||
Mapping_target | F47A4 | ||||||||
Type_of_mutation | Substitution | c | t | ||||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00030931 | ||||||||
Laboratory | PS | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00001081 | |||||||
Transcript | F47A4.2.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | F47A4.2.1:c.5092C>T | ||||||||
HGVSp | CE16058:p.Gln1698Ter | ||||||||
cDNA_position | 5195 | ||||||||
CDS_position | 5092 | ||||||||
Protein_position | 1698 | ||||||||
Exon_number | 13/21 | ||||||||
Codon_change | Cag/Tag | ||||||||
Amino_acid_change | Q/* | ||||||||
Genetics | Interpolated_map_position | X | 1.71018 | ||||||
Description | Phenotype | WBPhenotype:0000699 | Paper_evidence | WBPaper00005632 | |||||
Curator_confirmed | WBPerson625 | ||||||||
Remark | suppressor of multivulva | Paper_evidence | WBPaper00005632 | ||||||
Curator_confirmed | WBPerson625 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006748 | PATO:0000460 | Paper_evidence | WBPaper00005632 | ||||
Curator_confirmed | WBPerson625 | ||||||||
Reference | WBPaper00017886 | ||||||||
WBPaper00005632 | |||||||||
Method | Substitution_allele |