Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs372078813
- Species
- Homo sapiens
- Symbol
- rs372078813
- Category
- Variant
- Variant type
- SNP
- Overlaps
- CCDC63
- Location
- 12:110904692
- Nucleotide Change
- C>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)12:110904692C>A
- HGVS.c name
- ENSEMBL:ENST00000308208.10:c.1447C>A
- ENSEMBL:ENST00000545036.5:c.1327C>A
- HGVS.p name
- ENSP00000312399:p.Pro483Thr
- ENSP00000445881:p.Pro443Thr
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr12:110844486...110907535 (63.05 kb)
- Assembly version
- Not Available
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