WormBase Tree Display for Variation: WBVar00248917
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WBVar00248917 | Evidence | Paper_evidence | WBPaper00001485 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | sy127 | |||||
Other_name | CE03827:p.Arg123Ter | ||||||
ZK792.6.1:c.367C>T | |||||||
HGVSg | CHROMOSOME_IV:g.11689959G>A | ||||||
Sequence_details | SMap | S_parent | Sequence | ZK792 | |||
Flanking_sequences | ttggtagggaataaatgtgatttgtcatct | gatcagtcgacttccgaacagtcagtgaga | |||||
Mapping_target | ZK792 | ||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00001485 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Strain | WBStrain00026499 | ||||||
Laboratory | PS | ||||||
Status | Live | ||||||
Linked_to | WBVar02125747 | ||||||
Affects | Gene | WBGene00002335 | |||||
Transcript | ZK792.6.1 | VEP_consequence | stop_gained | ||||
VEP_impact | HIGH | ||||||
HGVSc | ZK792.6.1:c.367C>T | ||||||
HGVSp | CE03827:p.Arg123Ter | ||||||
cDNA_position | 378 | ||||||
CDS_position | 367 | ||||||
Protein_position | 123 | ||||||
Exon_number | 4/6 | ||||||
Codon_change | Cga/Tga | ||||||
Amino_acid_change | R/* | ||||||
Genetics | Interpolated_map_position | IV | 5.20995 | ||||
Description | Phenotype | WBPhenotype:0000062 | Paper_evidence | WBPaper00001355 | |||
Curator_confirmed | WBPerson625 | ||||||
Remark | recessive lethal | Paper_evidence | WBPaper00001355 | ||||
Curator_confirmed | WBPerson625 | ||||||
Recessive | Paper_evidence | WBPaper00001355 | |||||
Curator_confirmed | WBPerson625 | ||||||
Reference | WBPaper00001355 | ||||||
WBPaper00001485 | |||||||
Method | Substitution_allele |