Allele/Variant

rs1226099981

Species
Homo sapiens
Symbol
rs1226099981
Category
Variant
Variant type
SNP
Overlaps
AP4S1
Location
14:31084835
Nucleotide Change
G>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)14:31084835G>C
HGVS.c name
  • ENSEMBL:ENST00000216366.9:c.*79G>C
  • ENSEMBL:ENST00000334725.8:c.*105G>C
HGVS.p name
  • ENSP00000450768:p.Asp145His
  • ENSP00000452383:p.Asp121His
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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