Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs1030039318
- Species
- Homo sapiens
- Symbol
- rs1030039318
- Category
- Variant
- Variant type
- SNP
- Overlaps
- SOD1
- Location
- 21:31666472
- Nucleotide Change
- T>C
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000021.9:g.31666472T>C
- HGVS.c name
- ENSEMBL:ENST00000270142.11:c.193T>C
- ENSEMBL:ENST00000389995.4:c.136T>C
- HGVS.p name
- ENSP00000270142:p.Phe65Leu
- ENSP00000374645:p.Phe46Leu
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr21:31659666...31668931 (9.27 kb)
- Assembly version
- Not Available
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