Allele/Variant

rs202078546

Species
Homo sapiens
Symbol
rs202078546
Category
Variant
Variant type
SNP
Overlaps
RUFY2
Location
10:68379478
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)10:68379478C>T
HGVS.c name
  • ENSEMBL:ENST00000388768.6:c.1256G>A
  • ENSEMBL:ENST00000399200.7:c.1049G>A
HGVS.p name
  • ENSP00000373420:p.Arg419Gln
  • ENSP00000382151:p.Arg350Gln
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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