Allele/Variant

rs770499047

Species
Homo sapiens
Symbol
rs770499047
Category
Variant
Variant type
SNP
Overlaps
KATNAL2
Location
18:47058303
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000018.10:g.47058303C>T
HGVS.c name
  • ENSEMBL:ENST00000356157.12:c.401C>T
  • ENSEMBL:ENST00000585469.5:c.341C>T
HGVS.p name
  • ENSP00000348478:p.Ala134Val
  • ENSP00000464779:p.Ala23Val
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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