Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs754346230
- Species
- Homo sapiens
- Symbol
- rs754346230
- Category
- Variant
- Variant type
- SNP
- Overlaps
- WDR54
- Location
- 2:74424879
- Nucleotide Change
- G>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)2:74424879G>T
- HGVS.c name
- ENSEMBL:ENST00000348227.4:c.539G>T
- ENSEMBL:ENST00000409791.5:c.383G>T
- HGVS.p name
- ENSP00000006526:p.Cys180Phe
- ENSP00000387236:p.Cys128Phe
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr2:74421678...74425755 (4.08 kb)
- Assembly version
- Not Available
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