Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs757786096
- Species
- Homo sapiens
- Symbol
- rs757786096
- Category
- Variant
- Variant type
- SNP
- Overlaps
- NUP42
- Location
- 7:23185081
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000007.14:g.23185081C>T
- HGVS.c name
- ENSEMBL:ENST00000258742.10:c.133C>T
- ENSEMBL:ENST00000410002.7:c.133C>T
- HGVS.p name
- ENSP00000258742:p.Arg45Cys
- ENSP00000387330:p.Arg45Cys
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr7:23181841...23201011 (19.17 kb)
- Assembly version
- Not Available
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