Allele/Variant

rs2124651900

Species
Homo sapiens
Symbol
rs2124651900
Category
Variant
Variant type
SNP
Overlaps
AIFM1
Location
X:130136185
Nucleotide Change
C>A
Most Severe Consequence
  • intron variant
See all consequences
HGVS.g name
  • (GRCh38)X:130136185C>A
HGVS.c name
  • ENSEMBL:ENST00000287295.8:c.1165G>T
  • ENSEMBL:ENST00000319908.8:c.1162G>T
HGVS.p name
  • ENSP00000287295:p.Val389Leu
  • ENSP00000315122:p.Val388Leu
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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