WormBase Tree Display for Variation: WBVar00241554
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WBVar00241554 | Evidence | Paper_evidence | WBPaper00037788 | ||
---|---|---|---|---|---|
Name | Public_name | rh142 | |||
Other_name | CE48050:p.Gln997Ter | ||||
C52E12.2a.1:c.2989C>T | |||||
C52E12.2b.1:c.3130C>T | |||||
CE47855:p.Gln1044Ter | |||||
C52E12.2a.2:c.2989C>T | |||||
HGVSg | CHROMOSOME_II:g.7007403C>T | ||||
Sequence_details (5) | |||||
Variation_type | Allele | ||||
Origin | Species | Caenorhabditis elegans | |||
Strain | WBStrain00028847 | ||||
Laboratory | NJ | ||||
Status | Live | ||||
Affects | Gene | WBGene00006831 | |||
Transcript | C52E12.2a.2 | VEP_consequence | stop_gained | ||
VEP_impact | HIGH | ||||
HGVSc | C52E12.2a.2:c.2989C>T | ||||
HGVSp | CE48050:p.Gln997Ter | ||||
cDNA_position | 2991 | ||||
CDS_position | 2989 | ||||
Protein_position | 997 | ||||
Exon_number | 18/24 | ||||
Codon_change | Caa/Taa | ||||
Amino_acid_change | Q/* | ||||
C52E12.2b.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | C52E12.2b.1:c.3130C>T | ||||
HGVSp | CE47855:p.Gln1044Ter | ||||
cDNA_position | 3330 | ||||
CDS_position | 3130 | ||||
Protein_position | 1044 | ||||
Exon_number | 19/25 | ||||
Codon_change | Caa/Taa | ||||
Amino_acid_change | Q/* | ||||
C52E12.2a.1 | VEP_consequence | stop_gained | |||
VEP_impact | HIGH | ||||
HGVSc | C52E12.2a.1:c.2989C>T | ||||
HGVSp | CE48050:p.Gln997Ter | ||||
cDNA_position | 3125 | ||||
CDS_position | 2989 | ||||
Protein_position | 997 | ||||
Exon_number | 18/24 | ||||
Codon_change | Caa/Taa | ||||
Amino_acid_change | Q/* | ||||
Genetics | Interpolated_map_position | II | 0.244357 | ||
Mapping_data | In_2_point | 6169 | |||
In_multi_point | 2424 | ||||
Description (2) | |||||
Reference | WBPaper00014849 | ||||
WBPaper00039901 | |||||
WBPaper00001424 | |||||
WBPaper00014401 | |||||
WBPaper00037788 | |||||
Method | Substitution_allele |