Allele/Variant

rs376660617

Species
Homo sapiens
Symbol
rs376660617
Category
Variant
Variant type
SNP
Overlaps
SEPTIN12
Location
16:4777943
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)16:4777943G>A
HGVS.c name
  • ENSEMBL:ENST00000268231.13:c.931C>T
  • ENSEMBL:ENST00000396693.9:c.793C>T
HGVS.p name
  • ENSP00000268231:p.Arg311Cys
  • ENSP00000379922:p.Arg265Cys
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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