Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs1757380540
- Species
- Homo sapiens
- Symbol
- rs1757380540
- Category
- Variant
- Variant type
- SNP
- Overlaps
- BLOC1S5
- Location
- 6:8064358
- Nucleotide Change
- C>A
- Most Severe Consequence
- See all consequences
- intron variant&non coding transcript variant
- HGVS.g name
- (GRCh38)6:8064358C>A
- HGVS.c name
- ENSEMBL:ENST00000244777.6:n.36G>T
- ENSEMBL:ENST00000397456.2:n.394-1742G>T
- HGVS.p name
- ENSP00000380598:p.Glu7Ter
- ENSP00000445215:p.Glu7Ter
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr6:8013567...8064414 (50.85 kb)
- Assembly version
- Not Available
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