Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs191253318
- Species
- Homo sapiens
- Symbol
- rs191253318
- Category
- Variant
- Variant type
- SNP
- Overlaps
- SCMH1
- Location
- 1:41046461
- Nucleotide Change
- G>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- NC_000001.11:g.41046461G>A
- HGVS.c name
- ENSEMBL:ENST00000326197.11:c.1414C>T
- ENSEMBL:ENST00000337495.9:c.1444C>T
- HGVS.p name
- ENSP00000318094:p.His472Tyr
- ENSP00000337352:p.His482Tyr
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr1:41027202...41242306 (215.10 kb)
- Assembly version
- Not Available
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