Version: 7.5.0
Date: Fri Dec 13 2024
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sa13995
ZFIN:ZDB-ALT-131217-12398
Allele of
mamdc2a
Danio rerio
Summary
Transgenic Constructs
Genomic Variant Information
Variant Molecular Consequences
Phenotypes
Disease Associations
Allele/Variant
sa13995
Species
Danio rerio
Symbol
sa13995
Category
allele
Allele of gene
mamdc2a
Transgenic Constructs
None
Synonyms
None
Description
Not Available
Additional Information
Literature
Transgenic Constructs
No data available
Genomic Variant Information
NC_007116.7:g.52512964C>A
Symbol
NC_007116.7:g.52512964C>A
Category
Variant
Variant type
point mutation
Overlaps
mamdc2a
Location
5:52512964
Nucleotide Change
C>A
Most Severe Consequence
stop gained
See all consequences
HGVS.g name
NC_007116.7:g.52512964C>A
(GRCz11)5:52512964C>A
Show All 3
HGVS.c name
ENSEMBL:ENSDART00000165616.1:c.1660G>T
HGVS.p name
:p.Glu554Ter
Synonyms
Not Available
Notes
Not Available
Cross references
Not Available
References
ZFIN:ZDB-PUB-130425-4
All alleles with this variant
Download Variants Data
Genome location
Chr5:52509108...52569014
(59.91 kb)
Assembly version
GRCz11
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52.51M
52.52M
52.53M
52.54M
52.55M
52.56M
Variant Types and Consequences
Only variants associated to alleles are shown in the graphics above. See all variants in
JBrowse
.
Variant Molecular Consequences
Predicted effect of NC_007116.7:g.52512964C>A
Variant
NC_007116.7:g.52512964C>A
Variant type:
point_mutation
Show all details
Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
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Phenotypes
No data available
Disease Associations
No data available
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