WormBase Tree Display for Variation: WBVar00143858
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WBVar00143858 | Evidence | Paper_evidence | WBPaper00040121 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | e1248 | |||||
Other_name | CE43283:p.Ser454Phe | ||||||
R166.1a.2:c.1361C>T | |||||||
R166.1a.1:c.1361C>T | |||||||
HGVSg | CHROMOSOME_II:g.10532754C>T | ||||||
Sequence_details | SMap | S_parent | Sequence | R166 | |||
Flanking_sequences | catcaatgatccacgcgtttcgcaagtatt | tgcaatttacggacgttttgacactaaacg | |||||
Mapping_target | R166 | ||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00040121 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Strain | WBStrain00004492 | ||||||
Laboratory | CB | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00003107 | |||||
Transcript | R166.1a.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | ||||||
HGVSc | R166.1a.1:c.1361C>T | ||||||
HGVSp | CE43283:p.Ser454Phe | ||||||
cDNA_position | 1610 | ||||||
CDS_position | 1361 | ||||||
Protein_position | 454 | ||||||
Exon_number | 9/11 | ||||||
Codon_change | tCt/tTt | ||||||
Amino_acid_change | S/F | ||||||
R166.1a.2 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | ||||||
HGVSc | R166.1a.2:c.1361C>T | ||||||
HGVSp | CE43283:p.Ser454Phe | ||||||
cDNA_position | 1448 | ||||||
CDS_position | 1361 | ||||||
Protein_position | 454 | ||||||
Exon_number | 8/10 | ||||||
Codon_change | tCt/tTt | ||||||
Amino_acid_change | S/F | ||||||
Genetics (2) | |||||||
Description | Phenotype (4) | ||||||
Reference | WBPaper00040121 | ||||||
WBPaper00014014 | |||||||
Method | Substitution_allele |