WormBase Tree Display for Variation: WBVar00142819
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WBVar00142819 | Evidence | Paper_evidence | WBPaper00005054 | ||
---|---|---|---|---|---|
Name | Public_name | dh9 | |||
Other_name | CE30451:p.Gln337Ter | ||||
T13C5.1b.1:c.1009C>T | |||||
T13C5.1a.1:c.1054C>T | |||||
CE53632:p.Gln316Ter | |||||
CE27206:p.Gln352Ter | |||||
T13C5.1c.1:c.946C>T | |||||
HGVSg | CHROMOSOME_X:g.6199787C>T | ||||
Sequence_details | SMap | S_parent | Sequence | T13C5 | |
Flanking_sequences | aggtgattttatgtcacatatgatagacctt | aagagtctaagcaggaacaattcaggtaag | |||
Mapping_target | T13C5 | ||||
Type_of_mutation | Substitution | c | t | ||
SeqStatus | Sequenced | ||||
Variation_type | Allele | ||||
Origin | Species | Caenorhabditis elegans | |||
Laboratory | AA | ||||
Status | Live | ||||
Affects | Gene | WBGene00000905 | |||
Transcript | T13C5.1c.1 | VEP_consequence | stop_gained | ||
VEP_impact | HIGH | ||||
HGVSc | T13C5.1c.1:c.946C>T | ||||
HGVSp | CE53632:p.Gln316Ter | ||||
cDNA_position | 946 | ||||
CDS_position | 946 | ||||
Protein_position | 316 | ||||
Exon_number | 6/10 | ||||
Codon_change | Caa/Taa | ||||
Amino_acid_change | Q/* | ||||
T13C5.1b.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | T13C5.1b.1:c.1009C>T | ||||
HGVSp | CE30451:p.Gln337Ter | ||||
cDNA_position | 1009 | ||||
CDS_position | 1009 | ||||
Protein_position | 337 | ||||
Exon_number | 7/10 | ||||
Codon_change | Caa/Taa | ||||
Amino_acid_change | Q/* | ||||
T13C5.1a.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | T13C5.1a.1:c.1054C>T | ||||
HGVSp | CE27206:p.Gln352Ter | ||||
cDNA_position | 1115 | ||||
CDS_position | 1054 | ||||
Protein_position | 352 | ||||
Exon_number | 9/13 | ||||
Codon_change | Caa/Taa | ||||
Amino_acid_change | Q/* | ||||
Genetics | Interpolated_map_position | X | -3.46223 | ||
Reference | WBPaper00005054 | ||||
Method | Substitution_allele |