Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs369053817
- Species
- Homo sapiens
- Symbol
- rs369053817
- Category
- Variant
- Variant type
- SNP
- Overlaps
- CPTP
- Location
- 1:1327446
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)1:1327446C>T
- HGVS.c name
- ENSEMBL:ENST00000343938.9:c.328C>T
- ENSEMBL:ENST00000464957.1:n.553C>T
- HGVS.p name
- ENSP00000343890:p.Arg110Cys
- ENSP00000462636:p.Arg110Cys
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr1:1324756...1328896 (4.14 kb)
- Assembly version
- Not Available
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