Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs1252053423
- Species
- Homo sapiens
- Symbol
- rs1252053423
- Category
- Variant
- Variant type
- SNP
- Overlaps
- WFIKKN2
- Location
- 17:50839711
- Nucleotide Change
- G>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000017.11:g.50839711G>T
- HGVS.c name
- ENSEMBL:ENST00000311378.5:c.423G>T
- ENSEMBL:ENST00000426127.1:c.144G>T
- HGVS.p name
- ENSP00000311184:p.Glu141Asp
- ENSP00000405889:p.Glu48Asp
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr17:50834584...50842353 (7.77 kb)
- Assembly version
- Not Available
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