Allele/Variant

rs1194775389

Species
Homo sapiens
Symbol
rs1194775389
Category
Variant
Variant type
SNP
Overlaps
PPP2R1A
Location
19:52222175
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)19:52222175C>T
HGVS.c name
  • ENSEMBL:ENST00000322088.11:c.1595C>T
  • ENSEMBL:ENST00000391791.4:c.228C>T
HGVS.p name
  • ENSP00000324804:p.Pro532Leu
  • ENSP00000375668:p.Pro76=
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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