WormBase Tree Display for Variation: WBVar00143688
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WBVar00143688 | Evidence | Paper_evidence | WBPaper00000762 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | e1026 | |||||||
Other_name | C37F5.1b.1:c.199C>T | ||||||||
CE31440:p.Gln107Ter | |||||||||
CE27833:p.Gln67Ter | |||||||||
C37F5.1a.1:c.319C>T | |||||||||
HGVSg | CHROMOSOME_IV:g.2278975G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | C37F5 | |||||
Flanking_sequences | gatgcagaagccgtggcgagaaagtgggga | aacggaaggcgaaaccgcatatgaattatg | |||||||
Mapping_target | C37F5 | ||||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00024367 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00004230 | ||||||||
WBStrain00004804 | |||||||||
Laboratory | CB | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00305307 | |||||||
WBGene00002990 | |||||||||
Transcript | C37F5.1a.1 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | C37F5.1a.1:c.319C>T | ||||||||
HGVSp | CE31440:p.Gln107Ter | ||||||||
cDNA_position | 319 | ||||||||
CDS_position | 319 | ||||||||
Protein_position | 107 | ||||||||
Exon_number | 3/7 | ||||||||
Codon_change | Caa/Taa | ||||||||
Amino_acid_change | Q/* | ||||||||
C37F5.1b.1 | VEP_consequence | stop_gained | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | C37F5.1b.1:c.199C>T | ||||||||
HGVSp | CE27833:p.Gln67Ter | ||||||||
cDNA_position | 207 | ||||||||
CDS_position | 199 | ||||||||
Protein_position | 67 | ||||||||
Exon_number | 2/6 | ||||||||
Codon_change | Caa/Taa | ||||||||
Amino_acid_change | Q/* | ||||||||
C37F5.2 | |||||||||
Interactor | WBInteraction000502311 | ||||||||
Genetics | Interpolated_map_position | IV | -8.47562 | ||||||
Description | Phenotype | WBPhenotype:0000700 | Paper_evidence | WBPaper00000762 | |||||
Curator_confirmed | WBPerson2021 | ||||||||
Recessive (2) | |||||||||
EQ_annotations | Life_stage | WBls:0000057 | PATO:0000460 | Paper_evidence | WBPaper00000762 | ||||
Curator_confirmed | WBPerson2021 | ||||||||
Reference | WBPaper00000762 | ||||||||
Method | Substitution_allele |