Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs749889500
- Species
- Homo sapiens
- Symbol
- rs749889500
- Category
- Variant
- Variant type
- SNP
- Overlaps
- MRPS27
- Location
- 5:72223847
- Nucleotide Change
- C>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)5:72223847C>A
- HGVS.c name
- ENSEMBL:ENST00000261413.10:c.841G>T
- ENSEMBL:ENST00000457646.9:c.673G>T
- HGVS.p name
- :p.Asp225Tyr
- ENSP00000261413:p.Asp281Tyr
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr5:72214953...72321717 (106.76 kb)
- Assembly version
- Not Available
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