WormBase Tree Display for Variation: WBVar00275339
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WBVar00275339 | Evidence | Paper_evidence | WBPaper00002918 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | y250 | |||||
Other_name | C18A3.6a.1:c.536C>T | ||||||
CE23555:p.Ser179Leu | |||||||
C18A3.6b.1:c.494C>T | |||||||
CE20518:p.Ser165Leu | |||||||
HGVSg | CHROMOSOME_II:g.5722772G>A | ||||||
Sequence_details | SMap | S_parent | Sequence | C18A3 | |||
Flanking_sequences | taattttaggtttggaattcttcgaaacat | agccaaggagaacattaatgtaaaggcagt | |||||
Mapping_target | C18A3 | ||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00002918 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Strain | WBStrain00029038 | ||||||
Laboratory | TY | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00004267 | |||||
Transcript | C18A3.6a.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | ||||||
HGVSc | C18A3.6a.1:c.536C>T | ||||||
HGVSp | CE23555:p.Ser179Leu | ||||||
cDNA_position | 738 | ||||||
CDS_position | 536 | ||||||
Protein_position | 179 | ||||||
Exon_number | 6/8 | ||||||
Codon_change | tCa/tTa | ||||||
Amino_acid_change | S/L | ||||||
C18A3.6b.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | ||||||
HGVSc | C18A3.6b.1:c.494C>T | ||||||
HGVSp | CE20518:p.Ser165Leu | ||||||
cDNA_position | 494 | ||||||
CDS_position | 494 | ||||||
Protein_position | 165 | ||||||
Exon_number | 4/6 | ||||||
Codon_change | tCa/tTa | ||||||
Amino_acid_change | S/L | ||||||
Genetics | Interpolated_map_position | II | -0.959376 | ||||
Mapping_data | In_multi_point | 3342 | |||||
Description | Phenotype (23) | ||||||
Reference | WBPaper00043908 | ||||||
WBPaper00014764 | |||||||
WBPaper00022070 | |||||||
WBPaper00044486 | |||||||
Method | Substitution_allele |