Allele/Variant

rs1385458995

Species
Homo sapiens
Symbol
rs1385458995
Category
Variant
Variant type
SNP
Overlaps
ACTR8
Location
3:53868814
Nucleotide Change
A>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)3:53868814A>C
HGVS.c name
  • ENSEMBL:ENST00000335754.8:c.1780T>G
  • ENSEMBL:ENST00000482349.5:c.1447T>G
HGVS.p name
  • ENSP00000336842:p.Cys594Gly
  • ENSP00000417230:p.Leu347=
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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