Allele/Variant

rs864309596

Species
Homo sapiens
Symbol
rs864309596
Category
Variant
Variant type
SNP
Overlaps
AP4S1
Location
14:31084837
Nucleotide Change
C>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)14:31084837C>A
HGVS.c name
  • ENSEMBL:ENST00000216366.9:c.*81C>A
  • ENSEMBL:ENST00000334725.8:c.*107C>A
HGVS.p name
  • ENSP00000450768:p.Asp145Glu
  • ENSP00000452383:p.Asp121Glu
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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