Allele/Variant

rs121434242

Species
Homo sapiens
Symbol
rs121434242
Category
Variant
Variant type
SNP
Overlaps
PRPF3
Location
1:150344212
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000001.11:g.150344212C>T
HGVS.c name
  • ENSEMBL:ENST00000324862.7:c.1477C>T
  • ENSEMBL:ENST00000467329.5:n.1746C>T
HGVS.p name
  • ENSP00000315379:p.Pro493Ser
  • NP_001337458:p.Pro358Ser
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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