Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs567505755
- Species
- Homo sapiens
- Symbol
- rs567505755
- Category
- Variant
- Variant type
- SNP
- Overlaps
- HDHD2
- Location
- 18:47136382
- Nucleotide Change
- T>C
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000018.10:g.47136382T>C
- HGVS.c name
- ENSEMBL:ENST00000300605.11:c.58A>G
- ENSEMBL:ENST00000586546.5:n.246A>G
- HGVS.p name
- ENSP00000300605:p.Ile20Val
- ENSP00000465282:p.Ile20Val
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr18:47107408...47150500 (43.09 kb)
- Assembly version
- Not Available
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