Allele/Variant

rs782644120

Species
Homo sapiens
Symbol
rs782644120
Category
Variant
Variant type
SNP
Overlaps
PRPF3
Location
1:150335132
Nucleotide Change
C>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)1:150335132C>A
HGVS.c name
  • ENSEMBL:ENST00000324862.7:c.926C>A
  • ENSEMBL:ENST00000467329.5:n.1195C>A
HGVS.p name
  • ENSP00000315379:p.Thr309Asn
  • NP_001337458:p.Thr174Asn
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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