Allele/Variant

rs112035176

Species
Homo sapiens
Symbol
rs112035176
Category
Variant
Variant type
SNP
Overlaps
KATNAL2
Location
18:47077423
Nucleotide Change
A>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)18:47077423A>C
HGVS.c name
  • ENSEMBL:ENST00000356157.12:c.1173A>C
  • ENSEMBL:ENST00000586198.5:c.345A>C
HGVS.p name
  • ENSP00000348478:p.Glu391Asp
  • ENSP00000464779:p.Glu280Asp
Synonyms
Not Available
Notes
Not Available
Cross references
Not Available
References
Not Available

Genome location
Assembly version
Not Available
Viewer Help
Data currently unavailable; sequence viewer under construction

Variant Molecular Consequences

Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
No records match query. Try removing filters.
Showing 0 - 0 of 0 rows
per page