Allele/Variant

rs193082755

Species
Homo sapiens
Symbol
rs193082755
Category
Variant
Variant type
SNP
Overlaps
HDHD2
Location
18:47115215
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)18:47115215C>T
HGVS.c name
  • ENSEMBL:ENST00000300605.11:c.529G>A
  • ENSEMBL:ENST00000587841.5:n.233G>A
HGVS.p name
  • ENSP00000300605:p.Val177Met
  • ENSP00000468067:p.Val177Met
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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