Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs756580380
- Species
- Homo sapiens
- Symbol
- rs756580380
- Category
- Variant
- Variant type
- SNP
- Overlaps
- KIAA1191
- Location
- 5:176347663
- Nucleotide Change
- C>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)5:176347663C>A
- HGVS.c name
- ENSEMBL:ENST00000298569.9:c.855G>T
- ENSEMBL:ENST00000393725.6:c.798G>T
- HGVS.p name
- ENSP00000298569:p.Gln285His
- ENSP00000377326:p.Gln266His
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr5:176346061...176361807 (15.75 kb)
- Assembly version
- Not Available
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