Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
rs2124643483
- Species
- Homo sapiens
- Symbol
- rs2124643483
- Category
- Variant
- Variant type
- SNP
- Overlaps
- AIFM1
- Location
- X:130129616
- Nucleotide Change
- C>T
- Most Severe Consequence
- See all consequences
- intron variant
- HGVS.g name
- NC_000023.11:g.130129616C>T
- HGVS.c name
- ENSEMBL:ENST00000287295.8:c.1783G>A
- ENSEMBL:ENST00000319908.8:c.1777G>A
- HGVS.p name
- ENSP00000287295:p.Gly595Ser
- ENSP00000315122:p.Gly593Ser
- Synonyms
- Not Available
- Notes
- Not Available
- Cross references
- Not Available
- References
- Not Available
- Genome location
- ChrX:130124666...130165879 (41.21 kb)
- Assembly version
- Not Available
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