Allele/Variant

rs144000825

Species
Homo sapiens
Symbol
rs144000825
Category
Variant
Variant type
SNP
Overlaps
USPL1
Location
13:30659196
Nucleotide Change
A>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000013.11:g.30659196A>T
HGVS.c name
  • ENSEMBL:ENST00000255304.9:c.3119A>T
  • ENSEMBL:ENST00000614860.1:c.2132A>T
HGVS.p name
  • ENSP00000255304:p.Asp1040Val
  • ENSP00000480656:p.Asp711Val
Synonyms
Not Available
Notes
Not Available
Cross references
Not Available
References
Not Available

Genome location
Assembly version
Not Available
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Variant Molecular Consequences

Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
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