WormBase Tree Display for Variation: WBVar02130207
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WBVar02130207 | Evidence | Paper_evidence | WBPaper00045317 | |||
---|---|---|---|---|---|---|
Name | Public_name | h16474 | ||||
Other_name | CE20648:p.Ser163Phe | |||||
E04F6.1.1:c.488C>T | ||||||
HGVSg | CHROMOSOME_II:g.7206352C>T | |||||
Sequence_details | SMap | S_parent | Sequence | E04F6 | ||
Flanking_sequences | CCATTTACTGATAAATGGGACTTTGAATCTGCCCAGGCAT | CACAGCCCTGGAGCATCCTTCCTATAACCTGTCCATTTAC | ||||
Mapping_target | CHROMOSOME_II | |||||
Source_location | 200 | CHROMOSOME_II | 7206292 | 7206292 | ||
Type_of_mutation | Substitution | C | T | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00023756 | |||||
Laboratory | KR | |||||
Analysis | WGS_Rose | |||||
Status | Live | |||||
Affects | Gene | WBGene00005136 | ||||
Transcript | E04F6.1.1 | VEP_consequence | missense_variant | |||
VEP_impact | MODERATE | |||||
HGVSc | E04F6.1.1:c.488C>T | |||||
HGVSp | CE20648:p.Ser163Phe | |||||
cDNA_position | 488 | |||||
CDS_position | 488 | |||||
Protein_position | 163 | |||||
Exon_number | 3/5 | |||||
Codon_change | tCc/tTc | |||||
Amino_acid_change | S/F | |||||
Reference | WBPaper00040589 | |||||
WBPaper00000975 | ||||||
WBPaper00003985 | ||||||
WBPaper00000699 | ||||||
WBPaper00045317 | ||||||
Method | WGS_Rose |