Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs750296742
- Species
- Homo sapiens
- Symbol
- rs750296742
- Category
- Variant
- Variant type
- SNP
- Overlaps
- UTP18
- Location
- 17:51260721
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)17:51260721C>T
- HGVS.c name
- ENSEMBL:ENST00000225298.12:c.137C>T
- RefSeq:NM_016001.3:c.137C>T
- HGVS.p name
- ENSP00000225298:p.Ser46Phe
- NP_057085:p.Ser46Phe
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr17:51260546...51297936 (37.39 kb)
- Assembly version
- Not Available
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