Allele/Variant

rs779273690

Species
Homo sapiens
Symbol
rs779273690
Category
Variant
Variant type
SNP
Overlaps
PLEKHM3
Location
2:207976777
Nucleotide Change
T>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)2:207976777T>C
HGVS.c name
  • ENSEMBL:ENST00000427836.8:c.1420A>G
  • ENSEMBL:ENST00000447645.5:c.674A>G
HGVS.p name
  • ENSP00000395354:p.Gln225Arg
  • ENSP00000400150:p.Lys474Glu
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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