Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs2100602470
- Species
- Homo sapiens
- Symbol
- rs2100602470
- Category
- Variant
- Variant type
- SNP
- Overlaps
- MYSM1
- Location
- 1:58667135
- Nucleotide Change
- G>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000001.11:g.58667135G>A
- HGVS.c name
- ENSEMBL:ENST00000401044.7:n.1779C>T
- ENSEMBL:ENST00000472487.6:c.1934C>T
- HGVS.p name
- ENSP00000418734:p.Ala645Val
- ENSP00000478391:p.Ala51Val
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr1:58643440...58700090 (56.65 kb)
- Assembly version
- Not Available
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