Allele/Variant

rs759700399

Species
Homo sapiens
Symbol
rs759700399
Category
Variant
Variant type
SNP
Overlaps
CAPNS1
Location
19:36146015
Nucleotide Change
A>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)19:36146015A>T
HGVS.c name
  • ENSEMBL:ENST00000246533.8:c.565A>T
  • ENSEMBL:ENST00000586851.5:c.398A>T
HGVS.p name
  • ENSP00000246533:p.Ile189Phe
  • ENSP00000464849:p.Ile189Phe
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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