WormBase Tree Display for Variation: WBVar00169816
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WBVar00169816 | Evidence | Paper_evidence | WBPaper00037807 | ||
---|---|---|---|---|---|
Name | Public_name | WBVar00169816 | |||
Other_name | haw23066 | ||||
cewivar00011036 | |||||
F40H7.5.1:c.746C>T | |||||
CE53943:p.Ser249Phe | |||||
HGVSg | CHROMOSOME_II:g.3693663G>A | ||||
Sequence_details | SMap | S_parent | Sequence | F40H7 | |
Flanking_sequences | tgttatattaatactatcaatggca | ataaccagtcttgaatacaactttg | |||
Mapping_target | F40H7 | ||||
Type_of_mutation | Substitution | G | A | ||
SeqStatus | Sequenced | ||||
Variation_type | SNP | ||||
Predicted_SNP | |||||
Natural_variant | |||||
Origin | Species | Caenorhabditis elegans | |||
Strain (38) | |||||
Laboratory | RW | ||||
AX | |||||
Person | WBPerson1562 | ||||
Analysis | WGS_Hawaiian_Waterston | ||||
WGS_De_Bono | |||||
Million_mutation_project_reanalysis | |||||
History | Acquires_merge | WBVar01237273 | |||
WBVar01303505 | |||||
WBVar01368526 | |||||
Status | Live | ||||
Affects | Gene | WBGene00005993 | |||
Transcript | F40H7.5.1 | VEP_consequence | missense_variant | ||
VEP_impact | MODERATE | ||||
HGVSc | F40H7.5.1:c.746C>T | ||||
HGVSp | CE53943:p.Ser249Phe | ||||
cDNA_position | 746 | ||||
CDS_position | 746 | ||||
Protein_position | 249 | ||||
Exon_number | 5/6 | ||||
Codon_change | tCt/tTt | ||||
Amino_acid_change | S/F | ||||
Reference | WBPaper00037807 | ||||
Remark | [20081124 db] this Variation was previously named hw23066 | ||||
Method | WGS_Hawaiian_Waterston |