Version: 8.1.0Date: Fri Apr 18 2025
Allele/Variant
rs2052253571
- Species
- Homo sapiens
- Symbol
- rs2052253571
- Category
- Variant
- Variant type
- SNP
- Overlaps
- BTBD7
- Location
- 14:93243010
- Nucleotide Change
- G>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000014.9:g.93243010G>A
- HGVS.c name
- ENSEMBL:ENST00000334746.10:c.2662C>T
- ENSEMBL:ENST00000355125.3:n.1362C>T
- HGVS.p name
- ENSP00000335615:p.Leu888Phe
- ENSP00000450778:p.Leu503Phe
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr14:93237550...93333092 (95.54 kb)
- Assembly version
- Not Available
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