Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs75124417
- Species
- Homo sapiens
- Symbol
- rs75124417
- Category
- Variant
- Variant type
- SNP
- Overlaps
- COP1
- Location
- 1:176136495
- Nucleotide Change
- C>G
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000001.11:g.176136495C>G
- HGVS.c name
- ENSEMBL:ENST00000308769.12:c.820-1409G>C
- ENSEMBL:ENST00000367666.5:c.397-1409G>C
- HGVS.p name
- ENSP00000356641:p.Arg295Thr
- XP_016857562:p.Arg55Thr
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr1:175944831...176207286 (262.46 kb)
- Assembly version
- Not Available
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