WormBase Tree Display for Variation: WBVar00143277
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WBVar00143277 | Evidence | Person_evidence | WBPerson10095 | |||
---|---|---|---|---|---|---|
Name | Public_name | e527 | ||||
Other_name | CE11540:p.Gly246Glu | |||||
F59E12.2.1:c.1310+336C>T | ||||||
F59E12.12.1:c.737G>A | ||||||
HGVSg | CHROMOSOME_II:g.5651638C>T | |||||
Sequence_details | SMap | S_parent | Sequence | F59E12 | ||
Flanking_sequences | gttccaggcagcccgtcaggtcctggtaat | ctggaggtcccggacttcctggaggccctt | ||||
Mapping_target | F59E12 | |||||
Type_of_mutation | Substitution | c | t | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00051519 | |||||
Laboratory | CB | |||||
Status | Live | |||||
Affects | Gene (2) | |||||
Transcript | F59E12.12.1 | VEP_consequence | missense_variant | |||
VEP_impact | MODERATE | |||||
SIFT | 0 | deleterious | ||||
PolyPhen | 0.997 | probably_damaging | ||||
HGVSc | F59E12.12.1:c.737G>A | |||||
HGVSp | CE11540:p.Gly246Glu | |||||
cDNA_position | 750 | |||||
CDS_position | 737 | |||||
Protein_position | 246 | |||||
Exon_number | 3/4 | |||||
Codon_change | gGa/gAa | |||||
Amino_acid_change | G/E | |||||
F59E12.2.1 | VEP_consequence | intron_variant | ||||
VEP_impact | MODIFIER | |||||
HGVSc | F59E12.2.1:c.1310+336C>T | |||||
Intron_number | 5/8 | |||||
Genetics | Interpolated_map_position | II | -0.988732 | |||
Remark | Variation information submitted by WBPerson10095 on 2022-02-17_15:15:25 via the Allele submission form. Received data and remarks refer to the negative strand sequence (CDS). | Curator_confirmed | WBPerson51134 | |||
alt_det = g to a mut_det = G246E | Person_evidence | WBPerson10095 | ||||
Curator_confirmed | WBPerson51134 | |||||
Method | Substitution_allele |