WormBase Tree Display for Variation: WBVar02127304
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WBVar02127304 | Evidence | Paper_evidence | WBPaper00045317 | |||
---|---|---|---|---|---|---|
Name | Public_name | h9173 | ||||
Other_name (16) | ||||||
HGVSg | CHROMOSOME_I:g.5061260G>A | |||||
Sequence_details | SMap | S_parent | Sequence | C30F8 | ||
Flanking_sequences | GAAGTCCATTGTTTTTGATTCGGTAGGGGAGAATAAAGTA | GAAATGATGGAGGTGGAGCTTTTACCTGAACAGTTTATCG | ||||
Mapping_target | CHROMOSOME_I | |||||
Source_location | 200 | CHROMOSOME_I | 5061263 | 5061263 | ||
Type_of_mutation | Substitution | G | A | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00023682 | |||||
Laboratory | KR | |||||
Analysis | WGS_Rose | |||||
Status | Live | |||||
Affects | Gene | WBGene00016735 | ||||
Transcript | C46H11.11g.1 (12) | |||||
C46H11.11e.1 (12) | ||||||
C46H11.11f.1 (12) | ||||||
C46H11.11d.1 (12) | ||||||
C46H11.11b.1 (12) | ||||||
C46H11.11c.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | |||||
SIFT | 0 | deleterious_low_confidence | ||||
PolyPhen | 0.999 | probably_damaging | ||||
HGVSc | C46H11.11c.1:c.1964C>T | |||||
HGVSp | CE50897:p.Pro655Leu | |||||
cDNA_position | 1964 | |||||
CDS_position | 1964 | |||||
Protein_position | 655 | |||||
Exon_number | 13/18 | |||||
Codon_change | cCt/cTt | |||||
Amino_acid_change | P/L | |||||
C46H11.11h.1 (12) | ||||||
C46H11.11a.1 (12) | ||||||
Reference | WBPaper00040589 | |||||
WBPaper00000975 | ||||||
WBPaper00003985 | ||||||
WBPaper00000699 | ||||||
WBPaper00045317 | ||||||
Method | WGS_Rose |