Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs1260788909
- Species
- Homo sapiens
- Symbol
- rs1260788909
- Category
- Variant
- Variant type
- SNP
- Overlaps
- SRP68
- Location
- 17:76043872
- Nucleotide Change
- T>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)17:76043872T>A
- HGVS.c name
- ENSEMBL:ENST00000307877.7:c.1481A>T
- ENSEMBL:ENST00000539137.5:c.1367A>T
- HGVS.p name
- ENSP00000312066:p.Asn494Ile
- ENSP00000446136:p.Asn456Ile
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr17:76038775...76072517 (33.74 kb)
- Assembly version
- Not Available
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