Allele/Variant

rs80358199

Species
Homo sapiens
Symbol
rs80358199
Category
Variant
Variant type
SNP
Overlaps
FUCA1
Location
1:23846105
Nucleotide Change
A>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)1:23846105A>C
HGVS.c name
  • ENSEMBL:ENST00000374479.4:c.1229T>G
  • RefSeq:NM_000147.5:c.1229T>G
HGVS.p name
  • ENSP00000363603:p.Leu410Arg
  • NP_000138:p.Leu410Arg
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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