Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs201613280
- Species
- Homo sapiens
- Symbol
- rs201613280
- Category
- Variant
- Variant type
- SNP
- Overlaps
- CPVL
- Location
- 7:28995780
- Nucleotide Change
- C>A
- Most Severe Consequence
- See all consequences
- intron variant&non coding transcript variant
- HGVS.g name
- NC_000007.14:g.28995780C>A
- HGVS.c name
- ENSEMBL:ENST00000265394.10:c.1423G>T
- ENSEMBL:ENST00000396276.7:c.1423G>T
- HGVS.p name
- ENSP00000265394:p.Val475Phe
- ENSP00000379572:p.Val475Phe
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr7:28994636...29195451 (200.82 kb)
- Assembly version
- Not Available
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