Allele/Variant

rs1031847083

Species
Homo sapiens
Symbol
rs1031847083
Category
Variant
Variant type
SNP
Overlaps
RBBP8NL
Location
20:62414398
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)20:62414398C>T
HGVS.c name
  • ENSEMBL:ENST00000252998.2:c.953G>A
  • RefSeq:NM_080833.3:c.953G>A
HGVS.p name
  • ENSP00000252998:p.Arg318Gln
  • NP_543023:p.Arg318Gln
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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