Allele/Variant

ihb47

Species
Danio rerio
Symbol
ihb47
Category
allele
Allele of gene
ripk2
Transgenic Constructs
None
Synonyms
None
Description
Not Available
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_007113.7:g.7558240_7558241delinsT

Symbol
NC_007113.7:g.7558240_7558241delinsT
Category
Variant
Variant type
delins
Overlaps
ripk2
Location
2:7558240-7558241
Nucleotide Change
CA>T
Most Severe Consequence
  • frameshift variant
See all consequences
HGVS.g name
  • (GRCz11)2:7558240_7558241delinsT
  • NC_007113.7:g.7558240_7558241delinsT
HGVS.c name
  • ENSEMBL:ENSDART00000160053.1:c.102_103delinsT
HGVS.p name
  • :p.Ser35AlafsTer25
Synonyms
Not Available
Notes
  • 102 bp to 103 bp of the wildtype ripk2 coding sequence, CA, is mutated into T. The mutated ripk2 codes for a truncated protein containing 58 aa, 33 aa of which is identical to wildtype ripk2
Cross references
Not Available
References
All alleles with this variant

Genome location
Assembly version
GRCz11
Viewer Help
7.560M7.565M7.570M7.575M7.580M7.585M
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_007113.7:g.7558240_7558241delinsT

Variant
NC_007113.7:g.7558240_7558241delinsT
Variant type:
delins
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
    hatching delayed, abnormal
    ZFIN
    whole organism b2m expression decreased amount, abnormal
    ZFIN
    whole organism b2m expression increased amount, abnormal
    ZFIN
    whole organism cd44a expression decreased amount, abnormal
    ZFIN
    whole organism cd74a expression decreased amount, abnormal
    ZFIN
    whole organism cd74a expression increased amount, abnormal
    ZFIN
    whole organism ctss2.2 expression decreased amount, abnormal
    ZFIN
    whole organism ctss2.2 expression increased amount, abnormal
    ZFIN
    whole organism defbl2 expression increased amount, abnormal
    ZFIN
    whole organism dhrs13b.2 expression decreased amount, abnormal
    ZFIN
    Showing 1 - 10 of 44 rows
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    Disease Associations

    No data available