Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs547399191
- Species
- Homo sapiens
- Symbol
- rs547399191
- Category
- Variant
- Variant type
- SNP
- Overlaps
- RADIL
- Location
- 7:4799416
- Nucleotide Change
- T>C
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)7:4799416T>C
- HGVS.c name
- ENSEMBL:ENST00000399583.4:c.3190A>G
- ENSEMBL:ENST00000445392.5:n.3308A>G
- HGVS.p name
- ENSP00000382492:p.Thr1064Ala
- NP_060529:p.Thr1064Ala
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr7:4797055...4883716 (86.66 kb)
- Assembly version
- Not Available
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