Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs765289376
- Species
- Homo sapiens
- Symbol
- rs765289376
- Category
- Variant
- Variant type
- SNP
- Overlaps
- EFR3A
- Location
- 8:131984221
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000008.11:g.131984221C>T
- HGVS.c name
- ENSEMBL:ENST00000254624.10:c.1658C>T
- ENSEMBL:ENST00000519656.1:c.1550C>T
- HGVS.p name
- ENSP00000254624:p.Thr553Ile
- ENSP00000428086:p.Thr517Ile
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr8:131904093...132013642 (109.55 kb)
- Assembly version
- Not Available
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