Allele/Variant

rs147821107

Species
Homo sapiens
Symbol
rs147821107
Category
Variant
Variant type
SNP
Overlaps
ATRAID
Location
2:27215520
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)2:27215520C>T
HGVS.c name
  • ENSEMBL:ENST00000380171.9:c.340C>T
  • ENSEMBL:ENST00000405489.7:c.166C>T
HGVS.p name
  • ENSP00000369518:p.Arg114Cys
  • ENSP00000384033:p.Arg56Cys
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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