WormBase Tree Display for Variation: WBVar00248990
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WBVar00248990 | Name | Public_name | sy434 | ||||
---|---|---|---|---|---|---|---|
Other_name | C52E4.6a.1:c.355C>T | ||||||
CE17597:p.Leu119Phe | |||||||
HGVSg | CHROMOSOME_V:g.11993190G>A | ||||||
Sequence_details | SMap | S_parent | Sequence | C52E4 | |||
Flanking_sequences | ggctgtgaacttatacaacaaggagcaatc | ttttaaaacttccacaaacagctgctgcta | |||||
Mapping_target | C52E4 | ||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00024662 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Laboratory | PS | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00000876 | |||||
Transcript | C52E4.6a.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | ||||||
SIFT | 0.01 | deleterious | |||||
PolyPhen | 1 | probably_damaging | |||||
HGVSc | C52E4.6a.1:c.355C>T | ||||||
HGVSp | CE17597:p.Leu119Phe | ||||||
cDNA_position | 383 | ||||||
CDS_position | 355 | ||||||
Protein_position | 119 | ||||||
Exon_number | 5/10 | ||||||
Codon_change | Ctt/Ttt | ||||||
Amino_acid_change | L/F | ||||||
Genetics | Interpolated_map_position | V | 3.56897 | ||||
Method | Substitution_allele |