Questions, Feedback & Help
Send us an email and we'll get back to you ASAP. Or you can read our Frequently Asked Questions.
  • page settings
  • hide sidebar
  • show empty fields
  • layout
  • (too narrow)
  • open all
  • close all
  • default
Species » C. elegans(Genome assembly: WBcel235)

Variation » e30

  • Human diseases

  • Phenotypes

  • References

  • Tree Display

  • My Favorites

  • My Library

  • Comments on e30 (0)

  • Overview

    e30

    Species:
    Caenorhabditis elegans
    Status:
    Live
    Gene:
    sma-1 (reference allele)
    Other names:
    R31.1d.1:c.5580G>A, CE27773:p.Trp1860Ter, R31.1c.1:c.5331G>A, R31.1f.1:c.5331G>A, CE46009:p.Trp1777Ter, R31.1b.1:c.5580G>A, CE53064:p.Trp1777Ter, CE41581:p.Trp1963Ter, CE52987:p.Trp1963Ter, CE46252:p.Trp1860Ter, R31.1e.1:c.5889G>A, R31.1a.1:c.5889G>A
    Comparative info:
    Alliance of Genome Resources
    WormBase ID:
    WBVar00142924
    Allele: substitution

    Remarks:
    Paper evidence: Praitis V, Ciccone E & Austin J, 2005

  • Genetics

    Loading...

  • Isolation

    Laboratory:
    (Jonathan Hodgkin)
    Isolated By (author):
    Isolated By:
    External Source:
    Date Isolated:
    Mutagen:
    Isolated Via Forward Genetics:
    Isolated Via Reverse Genetics:
    Transposon Excision:
    Transposon Insertion:
    Derived From:
    Derivate:

  • Location

    Comparative info:
    Alliance of Genome Resources
    Genetic position:
    V:3.54 +/- 0.000 cM (interpolated)
    Genomic position:
    V:11908351..11908351
    Genome Browser:
    Launch full Genome Browser window V:11908351..11908351 (Legacy JBrowse 1 link: V:11908351..11908351)
    JBrowse 2-driven fully functional genome browser. Explore via the menu in the upper left corner
    This is where it should be


    Legacy Genome Browser image
    JBrowse 1

  • Molecular Details

    Comparative info:
    Alliance of Genome Resources
    Variation Type:
    Allele: substitution
    Sequencing Status:
    Sequenced
    Nucleotide Change:
    g/a (wild type / variant)
    Protein Change:
    R31.1e (W/*)
    Loading...
    R31.1d (W/*)
    Loading...
    R31.1f (W/*)
    Loading...
    R31.1c (W/*)
    Loading...
    R31.1a (W/*)
    Loading...
    R31.1b (W/*)
    Loading...
    Flanking PCR Products:
    Polymorphism type:
    Strains:
    14 strains
    BS5182, BW1199, BW219, CB1951, CB2621, CB30, CB4000, DR116, DR403, JJ862, JK3476, JR113, NL4000, SP1493
    Polymorphism status:
    Assays:
    Sequence:

    Note: sequence is reported on the (+) strand.

    red = mutation
    yellow = flanking sequence

    No sequence data available for download
    No sequence data available for download
    Sequence:
    Loading...
    CGH Flanking Probes:
    5' flank --
                 -- 3' flank
    Deletion Verification:
    Features Affected:
    Chromosome: V
    Gene: sma-1
    Interactor (1)
    adt-2 : sma-1
    Predicted CDSs (6)
    Transcript Affects feature start feature stop start relative to feature stop relative to feature
    R31.1eEffect on protein: Nonsense
    W to stop (1963)
    		118995641191614187888788
    R31.1dEffect on protein: Nonsense
    W to stop (1860)
    		119013501191614170027002
    R31.1fEffect on protein: Nonsense
    W to stop (1777)
    		119028331191614155195519
    R31.1cEffect on protein: Nonsense
    W to stop (1777)
    		119028331191614155195519
    R31.1aEffect on protein: Nonsense
    W to stop (1963)
    		118995641191614187888788
    R31.1bEffect on protein: Nonsense
    W to stop (1860)
    		119013501191614170027002
    Transcripts (6)
    Transcript VEP consequence VEP impact PolyPhen prediction SIFT prediction CDS CDS position cDNA position Protein position Codon (WT/mutant) Amino acid (WT/mutant) Location exon Location intron HGVSc HGVSp
    R31.1e.1stop gainedhighR31.1e588958891963tgG/tgAW/*8/17R31.1e.1:c.5889G>ACE52987:p.Trp1963Ter
    R31.1d.1stop gainedhighR31.1d558058221860tgG/tgAW/*8/18R31.1d.1:c.5580G>ACE46252:p.Trp1860Ter
    R31.1f.1stop gainedhighR31.1f533153311777tgG/tgAW/*5/14R31.1f.1:c.5331G>ACE53064:p.Trp1777Ter
    R31.1c.1stop gainedhighR31.1c533153311777tgG/tgAW/*5/15R31.1c.1:c.5331G>ACE46009:p.Trp1777Ter
    R31.1a.1stop gainedhighR31.1a588960041963tgG/tgAW/*9/20R31.1a.1:c.5889G>ACE41581:p.Trp1963Ter
    R31.1b.1stop gainedhighR31.1b558055801860tgG/tgAW/*7/17R31.1b.1:c.5580G>ACE27773:p.Trp1860Ter
    Clone (1)
    Transcript feature start feature stop start relative to feature stop relative to feature
    R31119069301192720814221422
    Detection Method:
    Affects Splice Site:
    Causes Frameshift: