Allele/Variant

rs112987601

Species
Homo sapiens
Symbol
rs112987601
Category
Variant
Variant type
SNP
Overlaps
AP4S1
Location
14:31066278
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)14:31066278C>T
HGVS.c name
  • ENSEMBL:ENST00000216366.9:c.82C>T
  • ENSEMBL:ENST00000313566.11:c.82C>T
HGVS.p name
  • ENSP00000216366:p.Arg28Cys
  • ENSP00000322508:p.Arg28Cys
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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