Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs1041415266
- Species
- Homo sapiens
- Symbol
- rs1041415266
- Category
- Variant
- Variant type
- SNP
- Overlaps
- COP1
- Location
- 1:176043256
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)1:176043256C>T
- HGVS.c name
- ENSEMBL:ENST00000308769.12:c.1470G>A
- ENSEMBL:ENST00000367666.5:c.1047G>A
- HGVS.p name
- ENSP00000310943:p.Lys490=
- ENSP00000356638:p.Lys349=
- 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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