Allele/Variant

rs200295883

Species
Homo sapiens
Symbol
rs200295883
Category
Variant
Variant type
SNP
Overlaps
RMDN1
Location
8:86486602
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000008.11:g.86486602C>T
HGVS.c name
  • ENSEMBL:ENST00000406452.8:c.377G>A
  • ENSEMBL:ENST00000430676.6:c.377G>A
HGVS.p name
  • ENSP00000385927:p.Arg126His
  • ENSP00000409661:p.Arg126His
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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