Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs749990547
- Species
- Homo sapiens
- Symbol
- rs749990547
- Category
- Variant
- Variant type
- SNP
- Overlaps
- CAMTA2
- Location
- 17:4978531
- Nucleotide Change
- G>C
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000017.11:g.4978531G>C
- HGVS.c name
- ENSEMBL:ENST00000348066.8:c.1738C>G
- ENSEMBL:ENST00000361571.9:c.1735C>G
- HGVS.p name
- ENSP00000321813:p.Pro580Ala
- ENSP00000354828:p.Pro579Ala
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr17:4967992...4987675 (19.68 kb)
- Assembly version
- Not Available
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