WormBase Tree Display for Variation: WBVar00089290
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WBVar00089290 | Evidence | Paper_evidence | WBPaper00002025 | |||
---|---|---|---|---|---|---|
Name | Public_name | n156 | ||||
Other_name | F18A1.2b.1:c.961C>T | |||||
CE27972:p.Leu321Phe | ||||||
F18A1.2d.1:c.1117C>T | ||||||
CE48778:p.Leu321Phe | ||||||
CE52355:p.Leu373Phe | ||||||
F18A1.2a.1:c.961C>T | ||||||
F18A1.2c.1:c.1063C>T | ||||||
CE04402:p.Leu355Phe | ||||||
HGVSg | CHROMOSOME_II:g.7683480C>T | |||||
Sequence_details | SMap | S_parent | Sequence | F18A1 | ||
Flanking_sequences | acactcaactcaacaggatctcgttggaat | ttctgcgccacgtcatcatgatccattcgg | ||||
Mapping_target | F18A1 | |||||
Type_of_mutation | Substitution | c | t | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00026708 | |||||
WBStrain00027127 | ||||||
WBStrain00027231 | ||||||
WBStrain00027235 | ||||||
Laboratory | MT | |||||
Status | Live | |||||
Affects | Gene | WBGene00003012 | ||||
Transcript | F18A1.2d.1 (12) | |||||
F18A1.2b.1 (12) | ||||||
F18A1.2a.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | |||||
SIFT | 0.04 | deleterious | ||||
PolyPhen | 0.999 | probably_damaging | ||||
HGVSc | F18A1.2a.1:c.961C>T | |||||
HGVSp | CE27972:p.Leu321Phe | |||||
cDNA_position | 961 | |||||
CDS_position | 961 | |||||
Protein_position | 321 | |||||
Exon_number | 2/5 | |||||
Codon_change | Ctt/Ttt | |||||
Amino_acid_change | L/F | |||||
F18A1.2c.1 (12) | ||||||
Interactor | WBInteraction000052283 | |||||
WBInteraction000521953 | ||||||
Genetics | Interpolated_map_position | II | 0.516431 | |||
Mapping_data | In_multi_point | 706 | ||||
707 | ||||||
708 | ||||||
709 | ||||||
710 | ||||||
711 | ||||||
Description | Phenotype (16) | |||||
Reference (13) | ||||||
Method | Substitution_allele |