Allele/Variant

rs377744254

Species
Homo sapiens
Symbol
rs377744254
Category
Variant
Variant type
SNP
Overlaps
MCMDC2
Location
8:66883796
Nucleotide Change
C>G
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000008.11:g.66883796C>G
HGVS.c name
  • ENSEMBL:ENST00000313616.5:c.875C>G
  • ENSEMBL:ENST00000396592.7:c.875C>G
HGVS.p name
  • ENSP00000317234:p.Ser292Cys
  • ENSP00000379837:p.Ser292Cys
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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