Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs749791315
- Species
- Homo sapiens
- Symbol
- rs749791315
- Category
- Variant
- Variant type
- SNP
- Overlaps
- RIPOR3
- Location
- 20:50597584
- Nucleotide Change
- G>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000020.11:g.50597584G>A
- HGVS.c name
- ENSEMBL:ENST00000045083.6:c.1774C>T
- ENSEMBL:ENST00000327979.8:c.1786C>T
- HGVS.p name
- ENSP00000045083:p.Leu592Phe
- ENSP00000332663:p.Leu596Phe
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr20:50586108...50691542 (105.43 kb)
- Assembly version
- Not Available
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