Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs143050232
- Species
- Homo sapiens
- Symbol
- rs143050232
- Category
- Variant
- Variant type
- SNP
- Overlaps
- AKNA
- Location
- 9:114347860
- Nucleotide Change
- G>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000009.12:g.114347860G>A
- HGVS.c name
- ENSEMBL:ENST00000223791.7:c.1642C>T
- ENSEMBL:ENST00000307564.8:c.3262C>T
- HGVS.p name
- ENSP00000223791:p.Arg548Cys
- ENSP00000303769:p.Arg1088Cys
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr9:114330504...114398472 (67.97 kb)
- Assembly version
- Not Available
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