WormBase Tree Display for Variation: WBVar02126404
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WBVar02126404 | Evidence | Paper_evidence | WBPaper00045317 | ||
---|---|---|---|---|---|
Name | Public_name | h15066 | |||
Other_name | Y71G12B.25b.1:c.533C>T | ||||
Y71G12B.25a.1:c.965C>T | |||||
CE49553:p.Ser178Phe | |||||
Y71G12B.8.1:c.763+3099G>A | |||||
CE44015:p.Ser322Phe | |||||
HGVSg | CHROMOSOME_I:g.1773168G>A | ||||
Sequence_details (6) | |||||
Variation_type | Allele | ||||
Origin | Species | Caenorhabditis elegans | |||
Strain | WBStrain00023875 | ||||
Laboratory | KR | ||||
Analysis | WGS_Rose | ||||
Status | Live | ||||
Affects | Gene | WBGene00022160 | |||
WBGene00022148 | |||||
Transcript | Y71G12B.8.1 | VEP_consequence | intron_variant | ||
VEP_impact | MODIFIER | ||||
HGVSc | Y71G12B.8.1:c.763+3099G>A | ||||
Intron_number | 3/7 | ||||
Y71G12B.25b.1 | VEP_consequence | missense_variant | |||
VEP_impact | MODERATE | ||||
HGVSc | Y71G12B.25b.1:c.533C>T | ||||
HGVSp | CE49553:p.Ser178Phe | ||||
cDNA_position | 533 | ||||
CDS_position | 533 | ||||
Protein_position | 178 | ||||
Exon_number | 1/2 | ||||
Codon_change | tCt/tTt | ||||
Amino_acid_change | S/F | ||||
Y71G12B.25a.1 | VEP_consequence | missense_variant | |||
VEP_impact | MODERATE | ||||
HGVSc | Y71G12B.25a.1:c.965C>T | ||||
HGVSp | CE44015:p.Ser322Phe | ||||
cDNA_position | 982 | ||||
CDS_position | 965 | ||||
Protein_position | 322 | ||||
Exon_number | 3/5 | ||||
Codon_change | tCt/tTt | ||||
Amino_acid_change | S/F | ||||
Reference | WBPaper00040589 | ||||
WBPaper00000975 | |||||
WBPaper00003985 | |||||
WBPaper00000699 | |||||
WBPaper00045317 | |||||
Method | WGS_Rose |