Allele/Variant

rs1230890093

Species
Homo sapiens
Symbol
rs1230890093
Category
Variant
Variant type
SNP
Overlaps
ABCD4
Location
14:74296406
Nucleotide Change
G>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000014.9:g.74296406G>C
HGVS.c name
  • ENSEMBL:ENST00000356924.9:c.469C>G
  • ENSEMBL:ENST00000460308.6:n.484C>G
HGVS.p name
  • ENSP00000349396:p.Leu157Val
  • ENSP00000451770:p.Ser116Arg
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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