WormBase Tree Display for Variation: WBVar00094743
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WBVar00094743 | Evidence | Paper_evidence | WBPaper00028560 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | or547 | |||||||
Other_name | CE37649:p.Gln662Ter | ||||||||
F49E8.3a.3:c.1792C>T | |||||||||
F49E8.3a.2:c.1792C>T | |||||||||
F49E8.3a.1:c.1792C>T | |||||||||
CE10790:p.Gln598Ter | |||||||||
F49E8.3b.1:c.1984C>T | |||||||||
HGVSg | CHROMOSOME_IV:g.7545095G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | F49E8 | |||||
Flanking_sequences | accggacgtgtttccatcgcacagtttgtt | aagtcgcagcttcttccgcaaaagaagatg | |||||||
Mapping_target | F49E8 | ||||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00028560 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Laboratory | EU | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00003914 | |||||||
Transcript | F49E8.3a.3 | VEP_consequence | stop_gained | ||||||
VEP_impact | HIGH | ||||||||
HGVSc | F49E8.3a.3:c.1792C>T | ||||||||
HGVSp | CE10790:p.Gln598Ter | ||||||||
cDNA_position | 1940 | ||||||||
CDS_position | 1792 | ||||||||
Protein_position | 598 | ||||||||
Exon_number | 6/9 | ||||||||
Codon_change | Caa/Taa | ||||||||
Amino_acid_change | Q/* | ||||||||
F49E8.3a.2 | VEP_consequence | stop_gained | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | F49E8.3a.2:c.1792C>T | ||||||||
HGVSp | CE10790:p.Gln598Ter | ||||||||
cDNA_position | 1992 | ||||||||
CDS_position | 1792 | ||||||||
Protein_position | 598 | ||||||||
Exon_number | 7/10 | ||||||||
Codon_change | Caa/Taa | ||||||||
Amino_acid_change | Q/* | ||||||||
F49E8.3a.1 | VEP_consequence | stop_gained | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | F49E8.3a.1:c.1792C>T | ||||||||
HGVSp | CE10790:p.Gln598Ter | ||||||||
cDNA_position | 1793 | ||||||||
CDS_position | 1792 | ||||||||
Protein_position | 598 | ||||||||
Exon_number | 5/8 | ||||||||
Codon_change | Caa/Taa | ||||||||
Amino_acid_change | Q/* | ||||||||
F49E8.3b.1 | VEP_consequence | stop_gained | |||||||
VEP_impact | HIGH | ||||||||
HGVSc | F49E8.3b.1:c.1984C>T | ||||||||
HGVSp | CE37649:p.Gln662Ter | ||||||||
cDNA_position | 1984 | ||||||||
CDS_position | 1984 | ||||||||
Protein_position | 662 | ||||||||
Exon_number | 6/8 | ||||||||
Codon_change | Caa/Taa | ||||||||
Amino_acid_change | Q/* | ||||||||
Genetics | Interpolated_map_position | IV | 3.34548 | ||||||
Description | Phenotype | WBPhenotype:0000052 | Paper_evidence | WBPaper00028560 | |||||
Curator_confirmed | WBPerson392 | ||||||||
Remark | anterior posterior polarity defect; meiotic exit delay | Paper_evidence | WBPaper00028560 | ||||||
Curator_confirmed | WBPerson392 | ||||||||
Temperature_sensitive | Heat_sensitive | Paper_evidence | WBPaper00028560 | ||||||
Curator_confirmed | WBPerson392 | ||||||||
WBPhenotype:0000104 | Paper_evidence | WBPaper00028560 | |||||||
Curator_confirmed | WBPerson392 | ||||||||
Remark | anterior posterior polarity defect; meiotic exit delay | Paper_evidence | WBPaper00028560 | ||||||
Curator_confirmed | WBPerson392 | ||||||||
EQ_annotations | GO_term | GO:0030010 | PATO:0000460 | Paper_evidence | WBPaper00028560 | ||||
Curator_confirmed | WBPerson392 | ||||||||
Temperature_sensitive | Heat_sensitive | Paper_evidence | WBPaper00028560 | ||||||
Curator_confirmed | WBPerson392 | ||||||||
WBPhenotype:0000775 | Paper_evidence | WBPaper00028560 | |||||||
Curator_confirmed | WBPerson392 | ||||||||
Remark | anterior posterior polarity defect; meiotic exit delay | Paper_evidence | WBPaper00028560 | ||||||
Curator_confirmed | WBPerson392 | ||||||||
EQ_annotations | GO_term | GO:0051321 | PATO:0000460 | Paper_evidence | WBPaper00028560 | ||||
Curator_confirmed | WBPerson392 | ||||||||
Temperature_sensitive | Heat_sensitive | Paper_evidence | WBPaper00028560 | ||||||
Curator_confirmed | WBPerson392 | ||||||||
Reference | WBPaper00028560 | ||||||||
Method | Substitution_allele |