Version: 8.1.0Date: Fri Apr 18 2025
Allele/Variant
rs1748087413
- Species
- Homo sapiens
- Symbol
- rs1748087413
- Category
- Variant
- Variant type
- SNP
- Overlaps
- CAMK4
- Location
- 5:111224643
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant&splice region variant
- HGVS.g name
- (GRCh38)5:111224643C>T
- HGVS.c name
- ENSEMBL:ENST00000282356.9:c.160C>T
- ENSEMBL:ENST00000504090.1:n.180C>T
- HGVS.p name
- ENSP00000282356:p.Arg54Trp
- ENSP00000422634:p.Arg54Trp
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr5:111223583...111494886 (271.30 kb)
- Assembly version
- Not Available
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