Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs1248836755
- Species
- Homo sapiens
- Symbol
- rs1248836755
- Category
- Variant
- Variant type
- SNP
- Overlaps
- CPSF6
- Location
- 12:69258709
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)12:69258709C>T
- HGVS.c name
- ENSEMBL:ENST00000266679.8:c.925C>T
- ENSEMBL:ENST00000435070.7:c.814C>T
- HGVS.p name
- ENSP00000266679:p.Arg309Cys
- ENSP00000391437:p.Arg199Cys
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr12:69239569...69274358 (34.79 kb)
- Assembly version
- Not Available
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