Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs267598228
- Species
- Homo sapiens
- Symbol
- rs267598228
- Category
- Variant
- Variant type
- SNP
- Overlaps
- SMG7
- Location
- 1:183544360
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)1:183544360C>T
- HGVS.c name
- ENSEMBL:ENST00000347615.6:c.1850C>T
- ENSEMBL:ENST00000367537.7:c.1799C>T
- HGVS.p name
- ENSP00000340766:p.Ser617Phe
- ENSP00000356507:p.Ser600Phe
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr1:183472216...183598246 (126.03 kb)
- Assembly version
- Not Available
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