Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs375070462
- Species
- Homo sapiens
- Symbol
- rs375070462
- Category
- Variant
- Variant type
- SNP
- Overlaps
- CIBAR2
- Location
- 16:85099220
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000016.10:g.85099220C>T
- HGVS.c name
- ENSEMBL:ENST00000539556.6:c.880G>A
- ENSEMBL:ENST00000618669.3:c.471-539G>A
- HGVS.p name
- ENSP00000443411:p.Gly294Ser
- ENSP00000487117:p.Gly294Ser
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr16:85098358...85112472 (14.11 kb)
- Assembly version
- Not Available
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