WormBase Tree Display for Variation: WBVar00143075
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| WBVar00143075 | Evidence | Paper_evidence | WBPaper00041308 | ||||
|---|---|---|---|---|---|---|---|
| Name | Public_name | e268 | |||||
| Other_name | CE45298:p.Trp1096Ter | ||||||
| C27H6.1b.1:c.3561G>A | |||||||
| CE45344:p.Trp1469Ter | |||||||
| C27H6.1a.1:c.4407G>A | |||||||
| C27H6.1c.1:c.3288G>A | |||||||
| CE45373:p.Trp1187Ter | |||||||
| HGVSg | CHROMOSOME_V:g.9967695C>T | ||||||
| Sequence_details | SMap | S_parent | Sequence | C27H6 | |||
| Flanking_sequences | GATTTATTTATTCCGAGAAGAACGTCATTG | GGAGTAGGATCAATTCATTCCAAAAAACTT | |||||
| Mapping_target | C27H6 | ||||||
| Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00041308 | ||
| SeqStatus | Sequenced | ||||||
| Variation_type | Allele | ||||||
| Origin | Species | Caenorhabditis elegans | |||||
| Strain | WBStrain00004139 | ||||||
| WBStrain00004387 | |||||||
| WBStrain00033407 | |||||||
| Laboratory | CB | ||||||
| Status | Live | ||||||
| Affects | Gene | WBGene00006777 | |||||
| Transcript | C27H6.1b.1 | VEP_consequence | stop_gained | ||||
| VEP_impact | HIGH | ||||||
| HGVSc | C27H6.1b.1:c.3561G>A | ||||||
| HGVSp | CE45373:p.Trp1187Ter | ||||||
| cDNA_position | 3561 | ||||||
| CDS_position | 3561 | ||||||
| Protein_position | 1187 | ||||||
| Exon_number | 8/11 | ||||||
| Codon_change | tgG/tgA | ||||||
| Amino_acid_change | W/* | ||||||
| C27H6.1a.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C27H6.1a.1:c.4407G>A | ||||||
| HGVSp | CE45344:p.Trp1469Ter | ||||||
| cDNA_position | 4419 | ||||||
| CDS_position | 4407 | ||||||
| Protein_position | 1469 | ||||||
| Exon_number | 11/14 | ||||||
| Codon_change | tgG/tgA | ||||||
| Amino_acid_change | W/* | ||||||
| C27H6.1c.1 | VEP_consequence | stop_gained | |||||
| VEP_impact | HIGH | ||||||
| HGVSc | C27H6.1c.1:c.3288G>A | ||||||
| HGVSp | CE45298:p.Trp1096Ter | ||||||
| cDNA_position | 3288 | ||||||
| CDS_position | 3288 | ||||||
| Protein_position | 1096 | ||||||
| Exon_number | 6/8 | ||||||
| Codon_change | tgG/tgA | ||||||
| Amino_acid_change | W/* | ||||||
| Interactor | WBInteraction000518832 | ||||||
| Genetics | Interpolated_map_position | V | 2.22222 | ||||
| Mapping_data | In_2_point | 131 | |||||
| 139 | |||||||
| 947 | |||||||
| In_multi_point (15) | |||||||
| In_pos_neg_data | 307 | ||||||
| 857 | |||||||
| 865 | |||||||
| 1739 | |||||||
| 1763 | |||||||
| 2170 | |||||||
| 3074 | |||||||
| 3113 | |||||||
| Description | Phenotype (7) | ||||||
| Phenotype_not_observed | WBPhenotype:0000436 | Paper_evidence | WBPaper00028886 | ||||
| Curator_confirmed | WBPerson48 | ||||||
| Remark | Localization of the synaptic protein SNB-1 is normal, based on expression analysis of SNB-1::VENUS. | Paper_evidence | WBPaper00028886 | ||||
| Curator_confirmed | WBPerson48 | ||||||
| Reference | WBPaper00041308 | ||||||
| WBPaper00028886 | |||||||
| WBPaper00000031 | |||||||
| WBPaper00002007 | |||||||
| Method | Substitution_allele |
