WormBase Tree Display for Variation: WBVar01463312
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WBVar01463312 | Evidence | Paper_evidence | WBPaper00040707 | |||
---|---|---|---|---|---|---|
Name | Public_name | WBVar01463312 | ||||
Other_name | Y75B12B.1a.3:c.293T>C | |||||
Y75B12B.1a.1:c.293T>C | ||||||
CE46820:p.Leu98Ser | ||||||
CE44172:p.Leu98Ser | ||||||
Y75B12B.1c.1:c.293T>C | ||||||
CE40173:p.Leu98Ser | ||||||
Y75B12B.1a.2:c.293T>C | ||||||
Y75B12B.1b.1:c.293T>C | ||||||
HGVSg | CHROMOSOME_V:g.15185001T>C | |||||
Sequence_details | SMap | S_parent | Sequence | Y75B12B | ||
Flanking_sequences | CGTCACGTTCTGAGAAGAAAGCAAAGCACT | GGAGGTTTAAAAAATTTCAAATTTCTCGAT | ||||
Mapping_target | Y75B12B | |||||
Type_of_mutation | Substitution | t | c | |||
SeqStatus | Sequenced | |||||
Variation_type | SNP | |||||
Natural_variant | ||||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00031279 | From_analysis | WGS_Andersen | |||
WBStrain00031284 | From_analysis | WGS_Andersen | ||||
Laboratory | QX | |||||
Person | WBPerson1730 | |||||
Analysis | WGS_Andersen | |||||
DB_info | Database | dbSNP_rs | rs | 193348968 | ||
dbSNP_ss | ss | 295524887 | ||||
Status | Live | |||||
Affects | Gene | WBGene00013567 | ||||
Transcript | Y75B12B.1a.3 | VEP_consequence | missense_variant | |||
VEP_impact | MODERATE | |||||
HGVSc | Y75B12B.1a.3:c.293T>C | |||||
HGVSp | CE40173:p.Leu98Ser | |||||
cDNA_position | 303 | |||||
CDS_position | 293 | |||||
Protein_position | 98 | |||||
Exon_number | 2/5 | |||||
Codon_change | tTg/tCg | |||||
Amino_acid_change | L/S | |||||
Y75B12B.1a.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | |||||
HGVSc | Y75B12B.1a.1:c.293T>C | |||||
HGVSp | CE40173:p.Leu98Ser | |||||
cDNA_position | 296 | |||||
CDS_position | 293 | |||||
Protein_position | 98 | |||||
Exon_number | 2/6 | |||||
Codon_change | tTg/tCg | |||||
Amino_acid_change | L/S | |||||
Y75B12B.1c.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | |||||
HGVSc | Y75B12B.1c.1:c.293T>C | |||||
HGVSp | CE46820:p.Leu98Ser | |||||
cDNA_position | 296 | |||||
CDS_position | 293 | |||||
Protein_position | 98 | |||||
Exon_number | 2/7 | |||||
Codon_change | tTg/tCg | |||||
Amino_acid_change | L/S | |||||
Y75B12B.1a.2 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | |||||
HGVSc | Y75B12B.1a.2:c.293T>C | |||||
HGVSp | CE40173:p.Leu98Ser | |||||
cDNA_position | 303 | |||||
CDS_position | 293 | |||||
Protein_position | 98 | |||||
Exon_number | 2/5 | |||||
Codon_change | tTg/tCg | |||||
Amino_acid_change | L/S | |||||
Y75B12B.1b.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | |||||
HGVSc | Y75B12B.1b.1:c.293T>C | |||||
HGVSp | CE44172:p.Leu98Ser | |||||
cDNA_position | 293 | |||||
CDS_position | 293 | |||||
Protein_position | 98 | |||||
Exon_number | 1/3 | |||||
Codon_change | tTg/tCg | |||||
Amino_acid_change | L/S | |||||
Reference | WBPaper00040707 | |||||
Method | WGS_Andersen |