Allele/Variant

rs189622061

Species
Homo sapiens
Symbol
rs189622061
Category
Variant
Variant type
SNP
Overlaps
LOXHD1
Location
18:46592575
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)18:46592575G>A
HGVS.c name
  • ENSEMBL:ENST00000335730.6:n.754C>T
  • ENSEMBL:ENST00000441551.6:c.1441C>T
HGVS.p name
  • ENSP00000387621:p.Pro481Ser
  • ENSP00000444586:p.Pro481Ser
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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