Allele/Variant

rs2055451979

Species
Homo sapiens
Symbol
rs2055451979
Category
Variant
Variant type
SNP
Overlaps
AP2S1
Location
19:46838490
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)19:46838490G>A
HGVS.c name
  • ENSEMBL:ENST00000263270.11:c.386C>T
  • ENSEMBL:ENST00000352203.8:c.428C>T
HGVS.p name
  • ENSP00000263270:p.Thr129Met
  • ENSP00000263271:p.Thr143Met
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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