Allele/Variant

rs758709452

Species
Homo sapiens
Symbol
rs758709452
Category
Variant
Variant type
SNP
Overlaps
RUFY2
Location
10:68376946
Nucleotide Change
A>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000010.11:g.68376946A>C
HGVS.c name
  • ENSEMBL:ENST00000265865.3:n.821T>G
  • ENSEMBL:ENST00000388768.6:c.1337T>G
HGVS.p name
  • ENSP00000373420:p.Met446Arg
  • ENSP00000473462:p.Met411Arg
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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