Version: 8.1.0Date: Fri Apr 18 2025
Allele/Variant
rs375486078
- Species
- Homo sapiens
- Symbol
- rs375486078
- Category
- Variant
- Variant type
- SNP
- Overlaps
- DGCR6
- Location
- 22:18910993
- Nucleotide Change
- G>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)22:18910993G>A
- HGVS.c name
- ENSEMBL:ENST00000331444.12:c.478G>A
- ENSEMBL:ENST00000413981.5:c.70G>A
- HGVS.p name
- ENSP00000331681:p.Gly160Arg
- ENSP00000402409:p.Gly24Arg
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr22:18906028...18914238 (8.21 kb)
- Assembly version
- Not Available
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