WormBase Tree Display for Variation: WBVar00242483
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WBVar00242483 | Evidence | Paper_evidence | WBPaper00003693 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | sa73 | ||||||
Other_name (12) | ||||||||
HGVSg | CHROMOSOME_IV:g.7690186G>A | |||||||
Sequence_details | SMap | S_parent | Sequence | F33D4 | ||||
Flanking_sequences | aaacggtttatcttcaacttcttcttcatt | ctatattgatactgatgccgaaatgaaaga | ||||||
Mapping_target | F33D4 | |||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00003693 | |||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00022778 | |||||||
Laboratory | JT | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00002173 | ||||||
Transcript | F33D4.2d.1 (12) | |||||||
F33D4.2g.1 (12) | ||||||||
F33D4.2a.1 (12) | ||||||||
F33D4.2f.1 | VEP_consequence | missense_variant | ||||||
VEP_impact | MODERATE | |||||||
SIFT | 0 | deleterious | ||||||
PolyPhen | 0.999 | probably_damaging | ||||||
HGVSc | F33D4.2f.1:c.4574G>A | |||||||
HGVSp | CE28018:p.Cys1525Tyr | |||||||
cDNA_position | 4640 | |||||||
CDS_position | 4574 | |||||||
Protein_position | 1525 | |||||||
Exon_number | 18/34 | |||||||
Codon_change | tGc/tAc | |||||||
Amino_acid_change | C/Y | |||||||
F33D4.2h.1 (12) | ||||||||
F33D4.2e.1 (12) | ||||||||
Interactor | WBInteraction000050838 | |||||||
WBInteraction000050839 | ||||||||
WBInteraction000051755 | ||||||||
WBInteraction000052167 | ||||||||
WBInteraction000500987 | ||||||||
WBInteraction000501717 | ||||||||
WBInteraction000571516 | ||||||||
WBInteraction000571523 | ||||||||
WBInteraction000576759 | ||||||||
Genetics | Interpolated_map_position | IV | 3.38177 | |||||
Mapping_data | In_multi_point | 3249 | ||||||
3250 | ||||||||
3251 | ||||||||
Description | Phenotype (14) | |||||||
Phenotype_not_observed | WBPhenotype:0000478 | Paper_evidence | WBPaper00028886 | |||||
Curator_confirmed | WBPerson48 | |||||||
WBPhenotype:0000778 | Person_evidence | WBPerson261 | ||||||
Curator_confirmed | WBPerson712 | |||||||
Remark | appears to feed normally | Person_evidence | WBPerson261 | |||||
Curator_confirmed | WBPerson712 | |||||||
WBPhenotype:0000850 | Paper_evidence | WBPaper00035170 | ||||||
Curator_confirmed | WBPerson557 | |||||||
Phenotype_assay | Temperature | 20 | Paper_evidence | WBPaper00035170 | ||||
Curator_confirmed | WBPerson557 | |||||||
Reference (20) | ||||||||
Method | Substitution_allele |