Version: 8.1.0Date: Fri Apr 18 2025
Allele/Variant
rs750377654
- Species
- Homo sapiens
- Symbol
- rs750377654
- Category
- Variant
- Variant type
- SNP
- Overlaps
- KATNAL2
- Location
- 18:47058327
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)18:47058327C>T
- HGVS.c name
- ENSEMBL:ENST00000245121.10:c.209C>T
- ENSEMBL:ENST00000356157.12:c.425C>T
- HGVS.p name
- ENSP00000245121:p.Ser70Leu
- ENSP00000348478:p.Ser142Leu
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr18:46917492...47103478 (185.99 kb)
- Assembly version
- Not Available
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