WormBase Tree Display for Variation: WBVar02132146
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WBVar02132146 | Evidence | Paper_evidence | WBPaper00045317 | |||
---|---|---|---|---|---|---|
Name | Public_name | h5956 | ||||
Other_name | CE54103:p.Ser561= | |||||
CE30134:p.Ser524= | ||||||
F47D12.1b.1:c.1560+123G>A | ||||||
F47D12.1e.1:c.720+123G>A | ||||||
F47D12.1a.1:c.1572G>A | ||||||
F47D12.1c.1:c.1683G>A | ||||||
HGVSg | CHROMOSOME_III:g.6319579G>A | |||||
Sequence_details | SMap | S_parent | Sequence | F47D12 | ||
Flanking_sequences | ATCCGGTCACAATTACACTACAATTTCAGAGTGTCTTATC | GCTCTTAATTTTTTTCAACGAAAAAAGGTAACACGGGTGT | ||||
Mapping_target | CHROMOSOME_III | |||||
Source_location | 200 | CHROMOSOME_III | 6319523 | 6319523 | ||
Type_of_mutation | Substitution | G | A | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00023685 | |||||
Laboratory | KR | |||||
Analysis | WGS_Rose | |||||
Status | Live | |||||
Affects | Gene | WBGene00001518 | ||||
Transcript | F47D12.1b.1 | VEP_consequence | intron_variant | |||
VEP_impact | MODIFIER | |||||
HGVSc | F47D12.1b.1:c.1560+123G>A | |||||
Intron_number | 11/12 | |||||
F47D12.1e.1 | VEP_consequence | intron_variant | ||||
VEP_impact | MODIFIER | |||||
HGVSc | F47D12.1e.1:c.720+123G>A | |||||
Intron_number | 6/7 | |||||
F47D12.1a.1 | VEP_consequence | synonymous_variant | ||||
VEP_impact | LOW | |||||
HGVSc | F47D12.1a.1:c.1572G>A | |||||
HGVSp | CE30134:p.Ser524= | |||||
cDNA_position | 1615 | |||||
CDS_position | 1572 | |||||
Protein_position | 524 | |||||
Exon_number | 12/14 | |||||
Codon_change | tcG/tcA | |||||
Amino_acid_change | S | |||||
F47D12.1c.1 | VEP_consequence | synonymous_variant | ||||
VEP_impact | LOW | |||||
HGVSc | F47D12.1c.1:c.1683G>A | |||||
HGVSp | CE54103:p.Ser561= | |||||
cDNA_position | 1728 | |||||
CDS_position | 1683 | |||||
Protein_position | 561 | |||||
Exon_number | 11/13 | |||||
Codon_change | tcG/tcA | |||||
Amino_acid_change | S | |||||
Reference | WBPaper00040589 | |||||
WBPaper00000975 | ||||||
WBPaper00003985 | ||||||
WBPaper00000699 | ||||||
WBPaper00045317 | ||||||
Method | WGS_Rose |