WormBase Tree Display for Variation: WBVar00143469
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WBVar00143469 | Evidence | Paper_evidence | WBPaper00006395 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | e767 | |||||||
Other_name | CE28463:p.Gly246Asp | ||||||||
F56C11.1.1:c.737G>A | |||||||||
F56C11.1.2:c.737G>A | |||||||||
HGVSg | CHROMOSOME_I:g.152861C>T | ||||||||
Sequence_details | SMap | S_parent | Sequence | F56C11 | |||||
Flanking_sequences | tgaatgagaatccaggtcttctctcatttg | tctgatcctcttccgttggcataactacaa | |||||||
Mapping_target | F56C11 | ||||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00006395 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00004204 | ||||||||
WBStrain00026835 | |||||||||
WBStrain00027251 | |||||||||
WBStrain00028999 | |||||||||
WBStrain00057323 | |||||||||
Component_of_genotype | WBGenotype00000015 | ||||||||
Laboratory | CB | ||||||||
SHU | |||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00000253 | |||||||
Transcript | F56C11.1.1 (12) | ||||||||
F56C11.1.2 | VEP_consequence | missense_variant | |||||||
VEP_impact | MODERATE | ||||||||
SIFT | 0 | deleterious | |||||||
PolyPhen | 1 | probably_damaging | |||||||
HGVSc | F56C11.1.2:c.737G>A | ||||||||
HGVSp | CE28463:p.Gly246Asp | ||||||||
cDNA_position | 773 | ||||||||
CDS_position | 737 | ||||||||
Protein_position | 246 | ||||||||
Exon_number | 6/21 | ||||||||
Codon_change | gGt/gAt | ||||||||
Amino_acid_change | G/D | ||||||||
Interactor | WBInteraction000537316 | ||||||||
Genetics | Interpolated_map_position | I | -19.1473 | ||||||
Mapping_data | In_2_point (6) | ||||||||
In_multi_point | 390 | ||||||||
392 | |||||||||
979 | |||||||||
1241 | |||||||||
1294 | |||||||||
2207 | |||||||||
3200 | |||||||||
In_pos_neg_data | 6276 | ||||||||
Description | Phenotype (9) | ||||||||
Phenotype_not_observed | WBPhenotype:0000505 | Paper_evidence | WBPaper00001328 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | Males are not Ram. | Paper_evidence | WBPaper00001328 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006941 | PATO:0000460 | Paper_evidence | WBPaper00001328 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Life_stage | WBls:0000056 | PATO:0000460 | Paper_evidence | WBPaper00001328 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_assay | Temperature | 20C | Paper_evidence | WBPaper00001328 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Genotype | him-5(e1490) | Paper_evidence | WBPaper00001328 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0001412 | Paper_evidence | WBPaper00005747 | |||||||
Curator_confirmed | WBPerson2987 | ||||||||
Remark | Table 1 | Paper_evidence | WBPaper00005747 | ||||||
Curator_confirmed | WBPerson2987 | ||||||||
Phenotype_assay | Genotype | kaIs12 [col-19::gfp] | Paper_evidence | WBPaper00005747 | |||||
Curator_confirmed | WBPerson2987 | ||||||||
Reference | WBPaper00001328 | ||||||||
WBPaper00000031 | |||||||||
WBPaper00005747 | |||||||||
WBPaper00033445 | |||||||||
WBPaper00051549 | |||||||||
WBPaper00061175 | |||||||||
WBPaper00065026 | |||||||||
WBPaper00065304 | |||||||||
WBPaper00065993 | |||||||||
Remark | Variation stub/paper connection generated from the May 2021 NN VFP dataset. | ||||||||
Created by WBPerson51134 from the NN_VFP_triage_pipeline | |||||||||
Method | Substitution_allele |