Allele/Variant

rs753981413

Species
Homo sapiens
Symbol
rs753981413
Category
Variant
Variant type
SNP
Overlaps
SLC25A18
Location
22:17583501
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000022.11:g.17583501C>T
HGVS.c name
  • ENSEMBL:ENST00000327451.11:c.376C>T
  • ENSEMBL:ENST00000399813.1:c.376C>T
HGVS.p name
  • ENSP00000329033:p.Leu126Phe
  • ENSP00000382710:p.Leu126Phe
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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