Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs752611378
- Species
- Homo sapiens
- Symbol
- rs752611378
- Category
- Variant
- Variant type
- SNP
- Overlaps
- KDSR
- Location
- 18:63335257
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- splice region variant&synonymous variant
- HGVS.g name
- (GRCh38)18:63335257C>T
- HGVS.c name
- ENSEMBL:ENST00000326575.9:c.687G>A
- ENSEMBL:ENST00000586791.5:n.2307G>A
- HGVS.p name
- ENSP00000312939:p.Gln229=
- ENSP00000494352:p.Gln293=
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr18:63327726...63367228 (39.50 kb)
- Assembly version
- Not Available
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