Allele/Variant

rs374926522

Species
Homo sapiens
Symbol
rs374926522
Category
Variant
Variant type
SNP
Overlaps
KATNAL2
Location
18:47099304
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000018.10:g.47099304C>T
HGVS.c name
  • ENSEMBL:ENST00000356157.12:c.1273C>T
  • ENSEMBL:ENST00000588433.6:c.940C>T
HGVS.p name
  • ENSP00000348478:p.Arg425Trp
  • ENSP00000464779:p.Arg314Trp
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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