Allele/Variant

rs1282813411

Species
Homo sapiens
Symbol
rs1282813411
Category
Variant
Variant type
SNP
Overlaps
PRPF3
Location
1:150332747
Nucleotide Change
A>G
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000001.11:g.150332747A>G
HGVS.c name
  • ENSEMBL:ENST00000324862.7:c.487A>G
  • ENSEMBL:ENST00000467329.5:n.756A>G
HGVS.p name
  • ENSP00000315379:p.Ile163Val
  • NP_001337458:p.Ile28Val
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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