Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs372848442
- Species
- Homo sapiens
- Symbol
- rs372848442
- Category
- Variant
- Variant type
- SNP
- Overlaps
- USPL1
- Location
- 13:30631349
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)13:30631349C>T
- HGVS.c name
- ENSEMBL:ENST00000255304.9:c.743C>T
- ENSEMBL:ENST00000465952.5:n.1008C>T
- HGVS.p name
- ENSP00000255304:p.Ser248Leu
- XP_047285985:p.Ser242Leu
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr13:30617693...30660770 (43.08 kb)
- Assembly version
- Not Available
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