WormBase Tree Display for Variation: WBVar00248911
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WBVar00248911 | Evidence | Paper_evidence | WBPaper00001485 | ||||||
---|---|---|---|---|---|---|---|---|---|
Name | Public_name | sy100 | |||||||
Other_name | CE03827:p.Ser89Phe | ||||||||
ZK792.6.1:c.266C>T | |||||||||
HGVSg | CHROMOSOME_IV:g.11690117G>A | ||||||||
Sequence_details | SMap | S_parent | Sequence | ZK792 | |||||
Flanking_sequences | tgttggttttcgccgtcaacgaggctaaat | tttcgagaatgtcgctaactaccgcgagca | |||||||
Mapping_target | ZK792 | ||||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00001485 | ||||
SeqStatus | Sequenced | ||||||||
Variation_type | Allele | ||||||||
Origin | Species | Caenorhabditis elegans | |||||||
Strain | WBStrain00030814 | ||||||||
WBStrain00030815 | |||||||||
Laboratory | PS | ||||||||
Status | Live | ||||||||
Affects | Gene | WBGene00002335 | |||||||
Transcript | ZK792.6.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | ||||||||
HGVSc | ZK792.6.1:c.266C>T | ||||||||
HGVSp | CE03827:p.Ser89Phe | ||||||||
cDNA_position | 277 | ||||||||
CDS_position | 266 | ||||||||
Protein_position | 89 | ||||||||
Exon_number | 3/6 | ||||||||
Codon_change | tCt/tTt | ||||||||
Amino_acid_change | S/F | ||||||||
Genetics | Interpolated_map_position | IV | 5.21005 | ||||||
Mapping_data | In_multi_point | 1640 | |||||||
In_pos_neg_data | 4716 | ||||||||
4717 | |||||||||
Description | Phenotype | WBPhenotype:0000062 | Paper_evidence | WBPaper00001485 | |||||
Curator_confirmed | WBPerson625 | ||||||||
Remark | recessive lethal | Paper_evidence | WBPaper00001485 | ||||||
Curator_confirmed | WBPerson625 | ||||||||
Recessive | Paper_evidence | WBPaper00001485 | |||||||
Curator_confirmed | WBPerson625 | ||||||||
WBPhenotype:0000698 | Paper_evidence | WBPaper00001485 | |||||||
Curator_confirmed | WBPerson625 | ||||||||
Remark | vulvaless (dominant) | Paper_evidence | WBPaper00001485 | ||||||
Curator_confirmed | WBPerson625 | ||||||||
Dominant | Paper_evidence | WBPaper00001485 | |||||||
Curator_confirmed | WBPerson625 | ||||||||
EQ_annotations | Anatomy_term | WBbt:0006748 | PATO:0000460 | Paper_evidence | WBPaper00001485 | ||||
Curator_confirmed | WBPerson625 | ||||||||
Phenotype_not_observed | WBPhenotype:0000039 | Paper_evidence | WBPaper00002935 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Remark | sy100 did not affect life span. | Paper_evidence | WBPaper00002935 | ||||||
Curator_confirmed | WBPerson712 | ||||||||
Reference | WBPaper00002935 | ||||||||
WBPaper00013922 | |||||||||
WBPaper00014830 | |||||||||
WBPaper00017755 | |||||||||
WBPaper00001485 | |||||||||
Method | Substitution_allele |