Allele/Variant

rs200543681

Species
Homo sapiens
Symbol
rs200543681
Category
Variant
Variant type
SNP
Overlaps
AIFM1
Location
X:130129620
Nucleotide Change
C>T
Most Severe Consequence
  • intron variant
See all consequences
HGVS.g name
  • (GRCh38)X:130129620C>T
HGVS.c name
  • ENSEMBL:ENST00000287295.8:c.1779G>A
  • ENSEMBL:ENST00000319908.8:c.1773G>A
HGVS.p name
  • ENSP00000287295:p.Lys593=
  • ENSP00000315122:p.Lys591=
Synonyms
Not Available
Notes
Not Available
Cross references
Not Available
References
Not Available

Genome location
Assembly version
Not Available
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Variant Molecular Consequences

Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
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