Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs199523103
- Species
- Homo sapiens
- Symbol
- rs199523103
- Category
- Variant
- Variant type
- SNP
- Overlaps
- PLEKHG4B
- Location
- 5:182256
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)5:182256C>T
- HGVS.c name
- ENSEMBL:ENST00000283426.11:c.3749C>T
- ENSEMBL:ENST00000504041.1:n.1832C>T
- HGVS.p name
- ENSP00000283426:p.Thr1250Met
- ENSP00000490806:p.Thr1606Met
- 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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