Allele/Variant

rs778046594

Species
Homo sapiens
Symbol
rs778046594
Category
Variant
Variant type
SNP
Overlaps
PLEKHM3
Location
2:207861130
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000002.12:g.207861130G>A
HGVS.c name
  • ENSEMBL:ENST00000427836.8:c.2083C>T
  • ENSEMBL:ENST00000447645.5:c.1337C>T
HGVS.p name
  • ENSP00000395354:p.Pro446Leu
  • ENSP00000417003:p.Pro695Ser
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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