WormBase Tree Display for Variation: WBVar00000318
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WBVar00000318 | Evidence | Paper_evidence | WBPaper00005823 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | ax161 | |||||
Other_name | CE53900:p.Leu140Phe | ||||||
CE23241:p.Leu140Phe | |||||||
Y110A7A.17b.1:c.418C>T | |||||||
Y110A7A.17a.1:c.418C>T | |||||||
HGVSg | CHROMOSOME_I:g.5126669G>A | ||||||
Sequence_details | SMap | S_parent | Sequence | Y110A7A | |||
Flanking_sequences | gagccacgggttgcatcacatgctaatttg | ttcatgctcaaatgctttgcgatgaaagtt | |||||
Mapping_target | Y110A7A | ||||||
Type_of_mutation | Substitution | c | t | Person_evidence | WBPerson3922 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Strain | WBStrain00006408 | ||||||
Laboratory | JH | ||||||
Person | WBPerson3922 | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00003132 | |||||
Transcript | Y110A7A.17b.1 (12) | ||||||
Y110A7A.17a.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | ||||||
SIFT | 0.09 | tolerated | |||||
PolyPhen | 0.993 | probably_damaging | |||||
HGVSc | Y110A7A.17a.1:c.418C>T | ||||||
HGVSp | CE23241:p.Leu140Phe | ||||||
cDNA_position | 430 | ||||||
CDS_position | 418 | ||||||
Protein_position | 140 | ||||||
Exon_number | 4/13 | ||||||
Codon_change | Ctt/Ttt | ||||||
Amino_acid_change | L/F | ||||||
Genetics | Interpolated_map_position | I | -0.395557 | ||||
Description | Phenotype | WBPhenotype:0001216 | Paper_evidence | WBPaper00004484 | |||
Curator_confirmed | WBPerson205 | ||||||
Reference | WBPaper00004484 | ||||||
WBPaper00005823 | |||||||
Remark | Allele sequenced by Atilla Stetak | Curator_confirmed | WBPerson2970 | ||||
Method | Substitution_allele |