Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs1243728313
- Species
- Homo sapiens
- Symbol
- rs1243728313
- Category
- Variant
- Variant type
- SNP
- Overlaps
- CMPK1
- Location
- 1:47373075
- Nucleotide Change
- T>C
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000001.11:g.47373075T>C
- HGVS.c name
- ENSEMBL:ENST00000371870.3:n.444T>C
- ENSEMBL:ENST00000371871.8:n.576T>C
- HGVS.p name
- ENSP00000360939:p.Ser147Pro
- ENSP00000398192:p.Ser98Pro
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr1:47333790...47394866 (61.08 kb)
- Assembly version
- Not Available
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