Allele/Variant

rs1353245883

Species
Homo sapiens
Symbol
rs1353245883
Category
Variant
Variant type
SNP
Overlaps
CAPNS1
Location
19:36141076
Nucleotide Change
G>T
Most Severe Consequence
  • splice donor variant
See all consequences
HGVS.g name
  • (GRCh38)19:36141076G>T
HGVS.c name
  • ENSEMBL:ENST00000246533.8:c.65G>T
  • ENSEMBL:ENST00000587718.5:c.65G>T
HGVS.p name
  • ENSP00000246533:p.Gly22Val
  • ENSP00000464849:p.Gly22Val
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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