Version: 8.0.0
Date: Tue Jan 28 2025
rs1057519946
Variant overlaps PPP2R1A
Homo sapiens
SummaryVariant Molecular Consequences
Allele/Variant

rs1057519946

Species
Homo sapiens
Symbol
rs1057519946
Category
Variant
Variant type
SNP
Overlaps
PPP2R1A
Location
19:52212729
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000019.10:g.52212729C>T
HGVS.c name
  • ENSEMBL:ENST00000322088.11:c.547C>T
  • ENSEMBL:ENST00000454220.7:c.667C>T
HGVS.p name
  • ENSP00000324804:p.Arg183Trp
  • ENSP00000391905:p.Arg223Trp
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
ENSEMBL:ENST00000322088.11
protein_codingPPP2R1AExon 5/15
  • missense variant
547CggN/A
[183]R/WN/A
=>
Tgg
R/W
ENSEMBL:ENST00000454220.7
protein_codingPPP2R1AExon 5/15
  • missense variant
667CggN/A
[223]R/WN/A
=>
Tgg
R/W
ENSEMBL:ENST00000462047.1
transcriptPPP2R1AExon 1/3
  • non coding transcript exon variant
ENSEMBL:ENST00000462990.5
protein_codingPPP2R1AExon 5/15
  • missense variant
10CggN/A
[4]R/WN/A
=>
Tgg
R/W
ENSEMBL:ENST00000703395.1
protein_codingPPP2R1AExon 5/15
  • missense variant
10CggN/A
[4]R/WN/A
=>
Tgg
R/W
ENSEMBL:ENST00000703396.1
transcriptPPP2R1AExon 4/4
  • non coding transcript exon variant
ENSEMBL:ENST00000703397.1
protein_codingPPP2R1AExon 6/16
  • missense variant
10CggN/A
[4]R/WN/A
=>
Tgg
R/W
ENSEMBL:ENST00000703398.1
protein_codingPPP2R1AExon 5/15
  • missense variant
589CggN/A
[197]R/WN/A
=>
Tgg
R/W
ENSEMBL:ENST00000703421.1
transcriptPPP2R1AExon 5/5
  • non coding transcript exon variant
ENSEMBL:ENST00000703422.1
protein_codingPPP2R1AExon 5/15
  • missense variant
523CggN/A
[175]R/WN/A
=>
Tgg
R/W
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