Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs754548112
- Species
- Homo sapiens
- Symbol
- rs754548112
- Category
- Variant
- Variant type
- SNP
- Overlaps
- TRPV2
- Location
- 17:16431844
- Nucleotide Change
- G>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000017.11:g.16431844G>A
- HGVS.c name
- ENSEMBL:ENST00000338560.12:c.1648G>A
- ENSEMBL:ENST00000577277.6:c.178+2862G>A
- HGVS.p name
- ENSP00000342222:p.Ala550Thr
- XP_011522227:p.Ala120Thr
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr17:16415571...16437003 (21.43 kb)
- Assembly version
- Not Available
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