Allele/Variant

rs780963022

Species
Homo sapiens
Symbol
rs780963022
Category
Variant
Variant type
SNP
Overlaps
KIAA2013
Location
1:11925690
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000001.11:g.11925690C>T
HGVS.c name
  • ENSEMBL:ENST00000376572.8:c.548G>A
  • ENSEMBL:ENST00000376576.3:c.548G>A
HGVS.p name
  • ENSP00000365756:p.Arg183His
  • ENSP00000365760:p.Arg183His
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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