Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs141868117
- Species
- Homo sapiens
- Symbol
- rs141868117
- Category
- Variant
- Variant type
- SNP
- Overlaps
- ABCD4
- Location
- 14:74293217
- Nucleotide Change
- G>A
- Most Severe Consequence
- See all consequences
- missense variant
- HGVS.g name
- (GRCh38)14:74293217G>A
- HGVS.c name
- ENSEMBL:ENST00000356924.9:c.751C>T
- ENSEMBL:ENST00000460308.6:n.735-348C>T
- HGVS.p name
- ENSP00000349396:p.Arg251Cys
- XP_047287593:p.Arg251Cys
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- Chr14:74285269...74303055 (17.79 kb)
- Assembly version
- Not Available
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