WormBase Tree Display for Variation: WBVar00142952
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| WBVar00142952 | Evidence | Paper_evidence | WBPaper00030754 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | e86 | |||||
| Other_name (34) | |||||||
| HGVSg | CHROMOSOME_IV:g.12783006C>T | ||||||
| Sequence_details | SMap | S_parent | Sequence | ZK897 | |||
| Flanking_sequences | gtccatggaaataggtgtatgcctgatcga | aaggacctgaaggagttggtacagtaactc | |||||
| Mapping_target | ZK897 | ||||||
| Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00030754 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Laboratory | CB | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00006767 | |||||
| Transcript | ZK897.1c.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK897.1c.1:c.2425C>T | ||||||
| HGVSp | CE44563:p.Gln809Ter | ||||||
| cDNA_position | 2425 | ||||||
| CDS_position | 2425 | ||||||
| Protein_position | 809 | ||||||
| Exon_number | 12/21 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK897.1p.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK897.1p.1:c.2446C>T | ||||||
| HGVSp | CE49853:p.Gln816Ter | ||||||
| cDNA_position | 2446 | ||||||
| CDS_position | 2446 | ||||||
| Protein_position | 816 | ||||||
| Exon_number | 13/22 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK897.1q.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK897.1q.1:c.2425C>T | ||||||
| HGVSp | CE49778:p.Gln809Ter | ||||||
| cDNA_position | 2425 | ||||||
| CDS_position | 2425 | ||||||
| Protein_position | 809 | ||||||
| Exon_number | 12/21 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK897.1o.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK897.1o.1:c.2425C>T | ||||||
| HGVSp | CE49924:p.Gln809Ter | ||||||
| cDNA_position | 2425 | ||||||
| CDS_position | 2425 | ||||||
| Protein_position | 809 | ||||||
| Exon_number | 12/20 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK897.1s.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK897.1s.1:c.1081C>T | ||||||
| HGVSp | CE49876:p.Gln361Ter | ||||||
| cDNA_position | 1081 | ||||||
| CDS_position | 1081 | ||||||
| Protein_position | 361 | ||||||
| Exon_number | 5/14 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK897.1a.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK897.1a.1:c.2461C>T | ||||||
| HGVSp | CE44675:p.Gln821Ter | ||||||
| cDNA_position | 2480 | ||||||
| CDS_position | 2461 | ||||||
| Protein_position | 821 | ||||||
| Exon_number | 14/22 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK897.1l.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK897.1l.1:c.2461C>T | ||||||
| HGVSp | CE49750:p.Gln821Ter | ||||||
| cDNA_position | 2461 | ||||||
| CDS_position | 2461 | ||||||
| Protein_position | 821 | ||||||
| Exon_number | 13/22 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK897.1k.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK897.1k.1:c.2482C>T | ||||||
| HGVSp | CE49815:p.Gln828Ter | ||||||
| cDNA_position | 2482 | ||||||
| CDS_position | 2482 | ||||||
| Protein_position | 828 | ||||||
| Exon_number | 14/22 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK897.1d.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK897.1d.1:c.1081C>T | ||||||
| HGVSp | CE44694:p.Gln361Ter | ||||||
| cDNA_position | 1081 | ||||||
| CDS_position | 1081 | ||||||
| Protein_position | 361 | ||||||
| Exon_number | 5/12 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK897.1e.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK897.1e.1:c.1081C>T | ||||||
| HGVSp | CE44651:p.Gln361Ter | ||||||
| cDNA_position | 1081 | ||||||
| CDS_position | 1081 | ||||||
| Protein_position | 361 | ||||||
| Exon_number | 5/13 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK897.1i.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK897.1i.1:c.2446C>T | ||||||
| HGVSp | CE47452:p.Gln816Ter | ||||||
| cDNA_position | 2446 | ||||||
| CDS_position | 2446 | ||||||
| Protein_position | 816 | ||||||
| Exon_number | 13/21 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK897.1n.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK897.1n.1:c.2425C>T | ||||||
| HGVSp | CE49928:p.Gln809Ter | ||||||
| cDNA_position | 2425 | ||||||
| CDS_position | 2425 | ||||||
| Protein_position | 809 | ||||||
| Exon_number | 12/21 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK897.1h.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK897.1h.1:c.2389C>T | ||||||
| HGVSp | CE47155:p.Gln797Ter | ||||||
| cDNA_position | 2389 | ||||||
| CDS_position | 2389 | ||||||
| Protein_position | 797 | ||||||
| Exon_number | 11/19 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK897.1b.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK897.1b.1:c.2425C>T | ||||||
| HGVSp | CE44637:p.Gln809Ter | ||||||
| cDNA_position | 2444 | ||||||
| CDS_position | 2425 | ||||||
| Protein_position | 809 | ||||||
| Exon_number | 13/20 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK897.1j.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK897.1j.1:c.2482C>T | ||||||
| HGVSp | CE49911:p.Gln828Ter | ||||||
| cDNA_position | 2482 | ||||||
| CDS_position | 2482 | ||||||
| Protein_position | 828 | ||||||
| Exon_number | 14/23 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK897.1m.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK897.1m.1:c.2461C>T | ||||||
| HGVSp | CE49941:p.Gln821Ter | ||||||
| cDNA_position | 2461 | ||||||
| CDS_position | 2461 | ||||||
| Protein_position | 821 | ||||||
| Exon_number | 13/21 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| ZK897.1r.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | ZK897.1r.1:c.2389C>T | ||||||
| HGVSp | CE49966:p.Gln797Ter | ||||||
| cDNA_position | 2389 | ||||||
| CDS_position | 2389 | ||||||
| Protein_position | 797 | ||||||
| Exon_number | 11/20 | ||||||
| Codon_change | Caa/Taa | ||||||
| Amino_acid_change | Q/* | ||||||
| Genetics | Interpolated_map_position | IV | 6.32154 | ||||
| Description | Phenotype | WBPhenotype:0001410 | Paper_evidence | WBPaper00030754 | |||
| Curator_confirmed | WBPerson712 | ||||||
| Remark | As assayed by the absence of a signal on a Western blot probed with an antibody generated against aa 42-304 of UNC-31. | Paper_evidence | WBPaper00030754 | ||||
| Curator_confirmed | WBPerson712 | ||||||
| Reference | WBPaper00030754 | ||||||
| Method | Substitution_allele |
