Allele/Variant

sa898

Species
Danio rerio
Symbol
sa898
Category
allele
Allele of gene
kdm2aa
Transgenic Constructs
None
Synonyms
None
Description
Not Available
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_007112.7:g.44849079C>T

Symbol
NC_007112.7:g.44849079C>T
Category
Variant
Variant type
point mutation
Overlaps
kdm2aa
Location
1:44849079
Nucleotide Change
C>T
Most Severe Consequence
  • stop gained
See all consequences
HGVS.g name
  • 1:g.44849079C>T
  • NC_007112.7:g.44849079C>T
HGVS.c name
  • ENSEMBL:ENSDART00000147357.1:c.715C>T
  • ENSEMBL:ENSDART00000162779.1:c.715C>T
HGVS.p name
  • :p.Gln239Ter
Synonyms
Not Available
Notes
Not Available
Cross references
Not Available
References
All alleles with this variant

Genome location
Assembly version
GRCz11
Viewer Help
44.840M44.845M44.850M44.855M44.860M44.865M
Variant Types and ConsequencesOnly variants associated to alleles are shown in the graphics above. See all variants in JBrowse.

Variant Molecular Consequences

Predicted effect of NC_007112.7:g.44849079C>T

Variant
NC_007112.7:g.44849079C>T
Variant type:
point_mutation
Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
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    Phenotypes

    Phenotype
    Annotation details
    Source
    References
    eye melanoma present, abnormal
    ZFIN
    female organism decreased amount, abnormal
    ZFIN
    fertilization disrupted, abnormal
    ZFIN
    male organism increased amount, abnormal
    ZFIN
    oogenesis disrupted, abnormal
    ZFIN
    post-vent region melanoma present, abnormal
    ZFIN
    sex determination disrupted, abnormal
    ZFIN
    trunk melanoma present, abnormal
    ZFIN
    whole organism dnmt3bb.2 expression decreased amount, abnormal
    ZFIN
    whole organism nsd1b expression decreased amount, abnormal
    ZFIN
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    Disease Associations

    Association
    Disease Qualifier
    Disease
    Annotation details
    Evidence
    Source
    References
    is implicated inmelanoma
    • TAS
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