WormBase Tree Display for Variation: WBVar02132211
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WBVar02132211 | Evidence | Paper_evidence | WBPaper00045317 | |||
---|---|---|---|---|---|---|
Name | Public_name | h7969 | ||||
Other_name | CE29296:p.Pro289Ser | |||||
CE29297:p.Pro334Ser | ||||||
F28F5.3b.1:c.1000C>T | ||||||
F28F5.3a.1:c.865C>T | ||||||
CE30771:p.Pro384Ser | ||||||
F28F5.3c.1:c.1150C>T | ||||||
HGVSg | CHROMOSOME_III:g.6810752C>T | |||||
Sequence_details | SMap | S_parent | Sequence | F28F5 | ||
Flanking_sequences | ACCCAACTCAACCACTCGAATCTATCATGCTGTGGATATT | CATTTGATGAATCTCCAGCCAGTTACTATCCAAAACAAAA | ||||
Mapping_target | CHROMOSOME_III | |||||
Source_location | 200 | CHROMOSOME_III | 6810689 | 6810689 | ||
Type_of_mutation | Substitution | C | T | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Strain | WBStrain00023680 | |||||
Laboratory | KR | |||||
Analysis | WGS_Rose | |||||
Status | Live | |||||
Affects | Gene | WBGene00017904 | ||||
Transcript | F28F5.3b.1 | VEP_consequence | missense_variant | |||
VEP_impact | MODERATE | |||||
HGVSc | F28F5.3b.1:c.1000C>T | |||||
HGVSp | CE29297:p.Pro334Ser | |||||
cDNA_position | 1000 | |||||
CDS_position | 1000 | |||||
Protein_position | 334 | |||||
Exon_number | 5/16 | |||||
Codon_change | Cca/Tca | |||||
Amino_acid_change | P/S | |||||
F28F5.3a.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | |||||
HGVSc | F28F5.3a.1:c.865C>T | |||||
HGVSp | CE29296:p.Pro289Ser | |||||
cDNA_position | 937 | |||||
CDS_position | 865 | |||||
Protein_position | 289 | |||||
Exon_number | 6/18 | |||||
Codon_change | Cca/Tca | |||||
Amino_acid_change | P/S | |||||
F28F5.3c.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | |||||
HGVSc | F28F5.3c.1:c.1150C>T | |||||
HGVSp | CE30771:p.Pro384Ser | |||||
cDNA_position | 1165 | |||||
CDS_position | 1150 | |||||
Protein_position | 384 | |||||
Exon_number | 9/20 | |||||
Codon_change | Cca/Tca | |||||
Amino_acid_change | P/S | |||||
Reference | WBPaper00040589 | |||||
WBPaper00000975 | ||||||
WBPaper00003985 | ||||||
WBPaper00000699 | ||||||
WBPaper00045317 | ||||||
Method | WGS_Rose |