WormBase Tree Display for Variation: WBVar00088328
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WBVar00088328 | Evidence | Paper_evidence | WBPaper00002350 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | ku148 | |||||
Other_name | CE25854:p.Cys727Tyr | ||||||
F13B9.5.1:c.2180G>A | |||||||
HGVSg | CHROMOSOME_X:g.8282921G>A | ||||||
Sequence_details | SMap | S_parent | Sequence | F13B9 | |||
Flanking_sequences | aaactttgtttcaggagctcctcgtgtcat | ctggaacactgcgccgcaggatcgtccaac | |||||
Mapping_target | F13B9 | ||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00002350 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin | Species | Caenorhabditis elegans | |||||
Laboratory | MH | ||||||
Status | Live | ||||||
Affects | Gene | WBGene00002239 | |||||
Transcript | F13B9.5.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | ||||||
SIFT | 0 | deleterious | |||||
PolyPhen | 1 | probably_damaging | |||||
HGVSc | F13B9.5.1:c.2180G>A | ||||||
HGVSp | CE25854:p.Cys727Tyr | ||||||
cDNA_position | 2230 | ||||||
CDS_position | 2180 | ||||||
Protein_position | 727 | ||||||
Exon_number | 15/16 | ||||||
Codon_change | tGc/tAc | ||||||
Amino_acid_change | C/Y | ||||||
Genetics | Interpolated_map_position | X | -0.196425 | ||||
Reference | WBPaper00002350 | ||||||
Method | Substitution_allele |