Allele/Variant

rs114490852

Species
Homo sapiens
Symbol
rs114490852
Category
Variant
Variant type
SNP
Overlaps
FUCA1
Location
1:23848661
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)1:23848661G>A
HGVS.c name
  • ENSEMBL:ENST00000374479.4:c.1148C>T
  • RefSeq:NM_000147.5:c.1148C>T
HGVS.p name
  • ENSP00000363603:p.Thr383Ile
  • NP_000138:p.Thr383Ile
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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