Allele/Variant

rs764047918

Species
Homo sapiens
Symbol
rs764047918
Category
Variant
Variant type
SNP
Overlaps
GKAP1
Location
9:83784723
Nucleotide Change
T>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000009.12:g.83784723T>C
HGVS.c name
  • ENSEMBL:ENST00000376365.7:c.554A>G
  • ENSEMBL:ENST00000376371.7:c.554A>G
HGVS.p name
  • ENSP00000365544:p.His185Arg
  • ENSP00000365550:p.His185Arg
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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