Allele/Variant

rs147329563

Species
Homo sapiens
Symbol
rs147329563
Category
Variant
Variant type
SNP
Overlaps
ABCD4
Location
14:74302890
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000014.9:g.74302890G>A
HGVS.c name
  • ENSEMBL:ENST00000356924.9:c.23C>T
  • ENSEMBL:ENST00000460308.6:n.166C>T
HGVS.p name
  • ENSP00000349396:p.Pro8Leu
  • ENSP00000451770:p.Ala7=
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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