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Date: Fri Dec 13 2024
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ua5007
ZFIN:ZDB-ALT-200930-11
Allele of
appa
Danio rerio
Summary
Transgenic Constructs
Genomic Variant Information
Variant Molecular Consequences
Phenotypes
Disease Associations
Allele/Variant
ua5007
Species
Danio rerio
Symbol
ua5007
Category
allele
Allele of gene
appa
Transgenic Constructs
None
Synonyms
None
Description
Not Available
Additional Information
Literature
Transgenic Constructs
No data available
Genomic Variant Information
NC_007112.7:g.656649_656653del
Symbol
NC_007112.7:g.656649_656653del
Category
Variant
Variant type
deletion
Overlaps
appa
Location
1:656649-656653
Nucleotide Change
CGACG>t
Most Severe Consequence
frameshift variant
See all consequences
HGVS.g name
1:g.656649_656653del
(GRCz11)1:656649_656653del
Show All 3
HGVS.c name
ENSEMBL:ENSDART00000166786.1:c.41_45del
ENSEMBL:ENSDART00000170483.1:c.41_45del
HGVS.p name
:p.Ala14AspfsTer52
Synonyms
Not Available
Notes
Not Available
Cross references
Not Available
References
PMID:32165257
All alleles with this variant
Download Variants Data
Genome location
Chr1:617620...633356
(15.74 kb)
Assembly version
GRCz11
Viewer Help
618k
620k
622k
624k
626k
628k
630k
632k
appa
appa-202
appa-204
Variant Types and Consequences
Only variants associated to alleles are shown in the graphics above. See all variants in
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.
Variant Molecular Consequences
Predicted effect of NC_007112.7:g.656649_656653del
Variant
NC_007112.7:g.656649_656653del
Variant type:
deletion
Show all details
Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
Show details
appa-202
mRNA
Exon 1 / 19
frameshift variant
40
g
C
G
T
C
G
45
[14]
A
S
[15]
=>
g
frameshift
Show details
appa-204
mRNA
Exon 1 / 18
frameshift variant
40
g
C
G
T
C
G
45
[14]
A
S
[15]
=>
g
frameshift
Showing 1 - 2 of 2 rows
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1
Phenotypes
Phenotype
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Annotation details
Source
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References
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whole organism fertility, normal
View
Name
Type
Experimental condition
Modifier
References
appa
ua5007/ua5007
; appa
is22Gt/is22Gt
affected_genomic_model
has condition:
standard conditions
PMID:32165257
PMID:32165257
ZFIN
PMID:32165257
whole organism morphology, normal
View
Name
Type
Experimental condition
Modifier
References
appa
ua5007/ua5007
; appa
is22Gt/is22Gt
affected_genomic_model
has condition:
standard conditions
PMID:32165257
PMID:32165257
ZFIN
PMID:32165257
Showing 1 - 2 of 2 rows
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10
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100
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1
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Disease Associations
No data available
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