WormBase Tree Display for Variation: WBVar01413019
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WBVar01413019 | Evidence | Paper_evidence | WBPaper00037807 | |||
---|---|---|---|---|---|---|
Name | Public_name | WBVar01413019 | ||||
Other_name | cewivar00632609 | |||||
K08A2.1.2:c.1031_1032insAACACCACGTCCCA | ||||||
K08A2.1.1:c.1031_1032insAACACCACGTCCCA | ||||||
CE23860:p.Gln345ThrfsTer67 | ||||||
HGVSg | CHROMOSOME_II:g.3000345_3000346insAACACCACGTCCCA | |||||
Sequence_details | SMap | S_parent | Sequence | C41H7 | ||
Flanking_sequences | GATGTCAGCCGCCAACCACAAACCTTCAACCTTTTTCTATTTCAGAGCCC | ACAGCGAAACGGCAAGAAATATCACCCAAGCGATTCAAAGGGCAATCGAA | ||||
Mapping_target | C41H7 | |||||
Type_of_mutation | Insertion | AACACCACGTCCCA | Paper_evidence | WBPaper00037807 | ||
SeqStatus | Sequenced | |||||
Variation_type | SNP | |||||
Natural_variant | ||||||
Origin | Species | Caenorhabditis elegans | ||||
Strain (40) | ||||||
Laboratory | AX | |||||
Analysis | WGS_De_Bono | |||||
Million_mutation_project_reanalysis | ||||||
DB_info | Database | dbSNP_ss | ss | 539199027 | ||
History | Acquires_merge | WBVar01916037 | ||||
Status | Live | |||||
Affects | Gene | WBGene00019511 | ||||
Transcript | K08A2.1.1 | VEP_consequence | frameshift_variant | |||
VEP_impact | HIGH | |||||
HGVSc | K08A2.1.1:c.1031_1032insAACACCACGTCCCA | |||||
HGVSp | CE23860:p.Gln345ThrfsTer67 | |||||
cDNA_position | 1148-1149 | |||||
CDS_position | 1031-1032 | |||||
Protein_position | 344 | |||||
Exon_number | 6/7 | |||||
Codon_change | cca/ccAACACCACGTCCCAa | |||||
Amino_acid_change | P/PTPRPX | |||||
K08A2.1.2 | VEP_consequence | frameshift_variant | ||||
VEP_impact | HIGH | |||||
HGVSc | K08A2.1.2:c.1031_1032insAACACCACGTCCCA | |||||
HGVSp | CE23860:p.Gln345ThrfsTer67 | |||||
cDNA_position | 1037-1038 | |||||
CDS_position | 1031-1032 | |||||
Protein_position | 344 | |||||
Exon_number | 5/6 | |||||
Codon_change | cca/ccAACACCACGTCCCAa | |||||
Amino_acid_change | P/PTPRPX | |||||
Reference | WBPaper00037807 | |||||
Method | WGS_De_Bono |