Allele/Variant

rs375513384

Species
Homo sapiens
Symbol
rs375513384
Category
Variant
Variant type
SNP
Overlaps
RSPRY1
Location
16:57216946
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000016.10:g.57216946G>A
HGVS.c name
  • ENSEMBL:ENST00000394420.9:c.812G>A
  • ENSEMBL:ENST00000537866.5:c.812G>A
HGVS.p name
  • ENSP00000377942:p.Arg271Gln
  • ENSP00000443176:p.Arg271Gln
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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