Allele/Variant

rs753970574

Species
Homo sapiens
Symbol
rs753970574
Category
Variant
Variant type
SNP
Overlaps
PLEKHM3
Location
2:207976764
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000002.12:g.207976764C>T
HGVS.c name
  • ENSEMBL:ENST00000427836.8:c.1433G>A
  • ENSEMBL:ENST00000447645.5:c.687G>A
HGVS.p name
  • ENSP00000395354:p.Gly229=
  • ENSP00000400150:p.Gly478Asp
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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