Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs748381818
- Species
- Homo sapiens
- Symbol
- rs748381818
- Category
- Variant
- Variant type
- SNP
- Overlaps
- PLEKHG4B
- Location
- 5:143106
- Nucleotide Change
- C>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000005.10:g.143106C>A
- HGVS.c name
- ENSEMBL:ENST00000283426.11:c.469C>A
- ENSEMBL:ENST00000502646.1:c.211C>A
- HGVS.p name
- ENSP00000283426:p.Pro157Thr
- ENSP00000422493:p.Pro71Thr
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr5:92168...189972 (97.80 kb)
- Assembly version
- Not Available
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