Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs763217979
- Species
- Homo sapiens
- Symbol
- rs763217979
- Category
- Variant
- Variant type
- SNP
- Overlaps
- ACOXL
- Location
- 2:110987118
- Nucleotide Change
- G>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000002.12:g.110987118G>A
- HGVS.c name
- ENSEMBL:ENST00000389811.8:c.1160G>A
- ENSEMBL:ENST00000417074.5:c.584G>A
- HGVS.p name
- ENSP00000374461:p.Arg387Gln
- ENSP00000387832:p.Arg195Gln
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr2:110732539...111118548 (386.01 kb)
- Assembly version
- Not Available
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