WormBase Tree Display for Variation: WBVar01134614
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| WBVar01134614 | Name | Public_name | gk733281 | ||
|---|---|---|---|---|---|
| Other_name (14) | |||||
| HGVSg | CHROMOSOME_X:g.3552674G>A | ||||
| Sequence_details | SMap | S_parent | Sequence | F56B6 | |
| Flanking_sequences | GACAATGGAGGAGTCTACGGAGCAGGGCCCGCTCATAGTGCTATTAAAAA | GTGGGTTGATGAAAGTATGGTGTTCATTCAACTATTCATTGATACAAAAC | |||
| Mapping_target | F56B6 | ||||
| Type_of_mutation | Substitution | G | A | ||
| SeqStatus | Sequenced | ||||
| Variation_type | Allele | ||||
| Origin | Species | Caenorhabditis elegans | |||
| Strain | WBStrain00039608 | ||||
| Laboratory | VC | ||||
| Analysis | Million_Mutation_Project | ||||
| Status | Live | ||||
| Affects | Gene | WBGene00004350 | |||
| Transcript | F56B6.2j.1 | VEP_consequence | splice_region_variant,synonymous_variant | ||
| VEP_impact | LOW | ||||
| HGVSc | F56B6.2j.1:c.1833G>A | ||||
| HGVSp | CE53300:p.Lys611= | ||||
| cDNA_position | 1833 | ||||
| CDS_position | 1833 | ||||
| Protein_position | 611 | ||||
| Exon_number | 10/15 | ||||
| Codon_change | aaG/aaA | ||||
| Amino_acid_change | K | ||||
| F56B6.2e.1 | VEP_consequence | splice_region_variant,synonymous_variant | |||
| VEP_impact | LOW | ||||
| HGVSc | F56B6.2e.1:c.339G>A | ||||
| HGVSp | CE40073:p.Lys113= | ||||
| cDNA_position | 339 | ||||
| CDS_position | 339 | ||||
| Protein_position | 113 | ||||
| Exon_number | 2/8 | ||||
| Codon_change | aaG/aaA | ||||
| Amino_acid_change | K | ||||
| F56B6.2i.1 | VEP_consequence | splice_region_variant,synonymous_variant | |||
| VEP_impact | LOW | ||||
| HGVSc | F56B6.2i.1:c.1830G>A | ||||
| HGVSp | CE53249:p.Lys610= | ||||
| cDNA_position | 1913 | ||||
| CDS_position | 1830 | ||||
| Protein_position | 610 | ||||
| Exon_number | 11/17 | ||||
| Codon_change | aaG/aaA | ||||
| Amino_acid_change | K | ||||
| F56B6.2b.1 | VEP_consequence | splice_region_variant,synonymous_variant | |||
| VEP_impact | LOW | ||||
| HGVSc | F56B6.2b.1:c.1713G>A | ||||
| HGVSp | CE30151:p.Lys571= | ||||
| cDNA_position | 1748 | ||||
| CDS_position | 1713 | ||||
| Protein_position | 571 | ||||
| Exon_number | 10/16 | ||||
| Codon_change | aaG/aaA | ||||
| Amino_acid_change | K | ||||
| F56B6.2a.1 | VEP_consequence | splice_region_variant,synonymous_variant | |||
| VEP_impact | LOW | ||||
| HGVSc | F56B6.2a.1:c.1824G>A | ||||
| HGVSp | CE29403:p.Lys608= | ||||
| cDNA_position | 1913 | ||||
| CDS_position | 1824 | ||||
| Protein_position | 608 | ||||
| Exon_number | 11/17 | ||||
| Codon_change | aaG/aaA | ||||
| Amino_acid_change | K | ||||
| F56B6.2h.1 | VEP_consequence | splice_region_variant,synonymous_variant | |||
| VEP_impact | LOW | ||||
| HGVSc | F56B6.2h.1:c.1839G>A | ||||
| HGVSp | CE53327:p.Lys613= | ||||
| cDNA_position | 1922 | ||||
| CDS_position | 1839 | ||||
| Protein_position | 613 | ||||
| Exon_number | 11/17 | ||||
| Codon_change | aaG/aaA | ||||
| Amino_acid_change | K | ||||
| F56B6.2c.1 | VEP_consequence | splice_region_variant,synonymous_variant | |||
| VEP_impact | LOW | ||||
| HGVSc | F56B6.2c.1:c.639G>A | ||||
| HGVSp | CE29404:p.Lys213= | ||||
| cDNA_position | 639 | ||||
| CDS_position | 639 | ||||
| Protein_position | 213 | ||||
| Exon_number | 5/10 | ||||
| Codon_change | aaG/aaA | ||||
| Amino_acid_change | K | ||||
| Reference | WBPaper00042537 | ||||
| Method | Million_mutation |
