Allele/Variant

rs148194937

Species
Homo sapiens
Symbol
rs148194937
Category
Variant
Variant type
SNP
Overlaps
FUCA1
Location
1:23865497
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000001.11:g.23865497C>T
HGVS.c name
  • ENSEMBL:ENST00000374479.4:c.518G>A
  • RefSeq:NM_000147.5:c.518G>A
HGVS.p name
  • ENSP00000363603:p.Arg173Gln
  • NP_000138:p.Arg173Gln
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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