Allele/Variant

rs1390467559

Species
Homo sapiens
Symbol
rs1390467559
Category
Variant
Variant type
SNP
Overlaps
AFG2A
Location
4:123256065
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)4:123256065C>T
HGVS.c name
  • ENSEMBL:ENST00000274008.5:c.2390C>T
  • ENSEMBL:ENST00000675612.1:c.2459C>T
HGVS.p name
  • ENSP00000274008:p.Pro797Leu
  • ENSP00000502453:p.Pro820Leu
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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