Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs200464245
- Species
- Homo sapiens
- Symbol
- rs200464245
- Category
- Variant
- Variant type
- SNP
- Overlaps
- TMEM39B
- Location
- 1:32102669
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)1:32102669C>T
- HGVS.c name
- ENSEMBL:ENST00000336294.10:c.1475C>T
- ENSEMBL:ENST00000441402.5:n.1341C>T
- HGVS.p name
- ENSP00000338165:p.Ser492Phe
- NP_001306606:p.Ser365Phe
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr1:32072031...32102866 (30.84 kb)
- Assembly version
- Not Available
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