Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs996731103
- Species
- Homo sapiens
- Symbol
- rs996731103
- Category
- Variant
- Variant type
- SNP
- Overlaps
- RUFY2
- Location
- 10:68386127
- Nucleotide Change
- T>G
- Most Severe Consequence
- See all consequences
- missense variant&splice region variant
- HGVS.g name
- (GRCh38)10:68386127T>G
- HGVS.c name
- ENSEMBL:ENST00000388768.6:c.757A>C
- ENSEMBL:ENST00000399200.7:c.550A>C
- HGVS.p name
- ENSP00000373420:p.Ser253Arg
- ENSP00000382151:p.Ser184Arg
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr10:68341107...68407294 (66.19 kb)
- Assembly version
- Not Available
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