Allele/Variant

rs143491219

Species
Homo sapiens
Symbol
rs143491219
Category
Variant
Variant type
SNP
Overlaps
DACH2
Location
X:86814766
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)X:86814766G>A
HGVS.c name
  • ENSEMBL:ENST00000373125.9:c.1616G>A
  • ENSEMBL:ENST00000373131.5:c.1577G>A
HGVS.p name
  • ENSP00000362217:p.Arg539His
  • ENSP00000362223:p.Arg526His
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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