Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs1053201955
- Species
- Homo sapiens
- Symbol
- rs1053201955
- Category
- Variant
- Variant type
- SNP
- Overlaps
- PRPF3
- Location
- 1:150343372
- Nucleotide Change
- G>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000001.11:g.150343372G>A
- HGVS.c name
- ENSEMBL:ENST00000324862.7:c.1346G>A
- ENSEMBL:ENST00000467329.5:n.1615G>A
- HGVS.p name
- ENSP00000315379:p.Arg449Gln
- NP_001337458:p.Arg314Gln
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr1:150321468...150353233 (31.77 kb)
- Assembly version
- Not Available
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