Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs754985476
- Species
- Homo sapiens
- Symbol
- rs754985476
- Category
- Variant
- Variant type
- SNP
- Overlaps
- SEPTIN12
- Location
- 16:4779735
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)16:4779735C>T
- HGVS.c name
- ENSEMBL:ENST00000268231.13:c.778G>A
- ENSEMBL:ENST00000396693.9:c.640G>A
- HGVS.p name
- ENSP00000268231:p.Gly260Arg
- ENSP00000379922:p.Gly214Arg
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr16:4777606...4791828 (14.22 kb)
- Assembly version
- Not Available
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