Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs769072613
- Species
- Homo sapiens
- Symbol
- rs769072613
- Category
- Variant
- Variant type
- SNP
- Overlaps
- CFAP57
- Location
- 1:43185336
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)1:43185336C>T
- HGVS.c name
- ENSEMBL:ENST00000372492.9:c.949C>T
- ENSEMBL:ENST00000461557.2:n.234-12473G>A
- HGVS.p name
- ENSP00000361570:p.Arg317Cys
- ENSP00000435310:p.Arg317Cys
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr1:43172330...43254358 (82.03 kb)
- Assembly version
- Not Available
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