Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs200669234
- Species
- Homo sapiens
- Symbol
- rs200669234
- Category
- Variant
- Variant type
- SNP
- Overlaps
- HDHD2
- Location
- 18:47130245
- Nucleotide Change
- G>A
- Most Severe Consequence
- See all consequences
- missense variant&splice region variant
- HGVS.g name
- NC_000018.10:g.47130245G>A
- HGVS.c name
- ENSEMBL:ENST00000300605.11:c.394C>T
- ENSEMBL:ENST00000586546.5:n.535+4251C>T
- HGVS.p name
- ENSP00000300605:p.Arg132Trp
- ENSP00000466710:p.Arg123Trp
- 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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