Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs750482815
- Species
- Homo sapiens
- Symbol
- rs750482815
- Category
- Variant
- Variant type
- SNP
- Overlaps
- PURA
- Location
- 5:140115028
- Nucleotide Change
- G>C
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000005.10:g.140115028G>C
- HGVS.c name
- ENSEMBL:ENST00000331327.5:c.847G>C
- ENSEMBL:ENST00000651386.1:c.847G>C
- HGVS.p name
- ENSP00000332706:p.Glu283Gln
- ENSP00000499133:p.Glu283Gln
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr5:140107777...140125619 (17.84 kb)
- Assembly version
- Not Available
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