Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs367614502
- Species
- Homo sapiens
- Symbol
- rs367614502
- Category
- Variant
- Variant type
- SNP
- Overlaps
- STXBP5
- Location
- 6:147262345
- Nucleotide Change
- G>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000006.12:g.147262345G>A
- HGVS.c name
- ENSEMBL:ENST00000321680.11:c.622G>A
- ENSEMBL:ENST00000367475.7:n.622G>A
- HGVS.p name
- ENSP00000321826:p.Glu208Lys
- ENSP00000356450:p.Glu208Lys
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr6:147204180...147391010 (186.83 kb)
- Assembly version
- Not Available
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