WormBase Tree Display for Variation: WBVar00603909
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WBVar00603909 | Evidence | Paper_evidence | WBPaper00040589 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | h137 | |||||||
Other_name | CE24871:p.Gln358Ter | ||||||||
E01A2.4.1:c.1072C>T | |||||||||
HGVSg | CHROMOSOME_I:g.4130873G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | E01A2 | |||||
Flanking_sequences | tctgatactgaagaagaatgggaagaaaag | agtctgaaaagattgttggcacgattggaa | |||||||
Mapping_target | E01A2 | ||||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00040589 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Laboratory | KR | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00002696 | |||||||
Transcript | E01A2.4.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | E01A2.4.1:c.1072C>T | ||||||||
HGVSp | CE24871:p.Gln358Ter | ||||||||
cDNA_position | 1104 | ||||||||
CDS_position | 1072 | ||||||||
Protein_position | 358 | ||||||||
Exon_number | 4/6 | ||||||||
Codon_change | Cag/Tag | ||||||||
Amino_acid_change | Q/* | ||||||||
Genetics | Interpolated_map_position | I | -1.70374 | ||||||
Description | Phenotype | WBPhenotype:0000060 | Paper_evidence | WBPaper00040589 | |||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0007833 | PATO:0001422 | Paper_evidence | WBPaper00040589 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Life_stage | WBls:0000041 | PATO:0000460 | Paper_evidence | WBPaper00040589 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_assay | Genotype | KR456 sDp2; let-504 (h137) dpy-5 (e61) unc-13 (e450) | Paper_evidence | WBPaper00040589 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000188 | Paper_evidence | WBPaper00040589 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | gonadal arms have fully turned | Paper_evidence | WBPaper00040589 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0005178 | PATO:0000460 | Paper_evidence | WBPaper00040589 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_assay | Genotype | KR456 sDp2; let-504 (h137) dpy-5 (e61) unc-13 (e450) | Paper_evidence | WBPaper00040589 | |||||
Curator_confirmed | WBPerson712 | ||||||||
WBPhenotype:0000688 | Paper_evidence | WBPaper00040589 | |||||||
Curator_confirmed | WBPerson712 | ||||||||
EQ_annotations | Life_stage | WBls:0000041 | PATO:0000460 | Paper_evidence | WBPaper00040589 | ||||
Curator_confirmed | WBPerson712 | ||||||||
Phenotype_assay | Genotype | KR456 sDp2; let-504 (h137) dpy-5 (e61) unc-13 (e450) | Paper_evidence | WBPaper00040589 | |||||
Curator_confirmed | WBPerson712 | ||||||||
Reference | WBPaper00040589 | ||||||||
Method | Substitution_allele |