WormBase Tree Display for Variation: WBVar00142908
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WBVar00142908 | Evidence | Paper_evidence | WBPaper00006395 | |||
---|---|---|---|---|---|---|
Name | Public_name | e12 | ||||
Other_name | CE35021:p.Gly149Glu | |||||
T21D12.2b.1:c.446G>A | ||||||
T21D12.2a.1:c.446G>A | ||||||
CE49091:p.Gly149Glu | ||||||
HGVSg | CHROMOSOME_IV:g.258714C>T | |||||
Sequence_details (5) | ||||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00004077 | |||||
WBStrain00026744 | ||||||
WBStrain00027172 | ||||||
WBStrain00027245 | ||||||
WBStrain00027276 | ||||||
WBStrain00033525 | ||||||
WBStrain00035533 | ||||||
WBStrain00036391 | ||||||
WBStrain00049370 | ||||||
Laboratory | CB | |||||
Status | Live | |||||
Affects | Gene | WBGene00001071 | ||||
Transcript | T21D12.2b.1 | VEP_consequence | missense_variant | |||
VEP_impact | MODERATE | |||||
SIFT | 0 | deleterious | ||||
PolyPhen | 0 | unknown | ||||
HGVSc | T21D12.2b.1:c.446G>A | |||||
HGVSp | CE49091:p.Gly149Glu | |||||
cDNA_position | 446 | |||||
CDS_position | 446 | |||||
Protein_position | 149 | |||||
Exon_number | 2/4 | |||||
Codon_change | gGa/gAa | |||||
Amino_acid_change | G/E | |||||
T21D12.2a.1 (12) | ||||||
Interactor | WBInteraction000503698 | |||||
WBInteraction000537309 | ||||||
Genetics | Interpolated_map_position | IV | -26.772 | |||
Mapping_data | In_2_point (16) | |||||
In_multi_point (25) | ||||||
In_pos_neg_data | 2140 | |||||
3687 | ||||||
Description | Phenotype (16) | |||||
Phenotype_not_observed (3) | ||||||
Disease_info | Models_disease | DOID:37 | ||||
Models_disease_in_annotation | WBDOannot00001177 | |||||
Reference (14) | ||||||
Method | Substitution_allele |