Allele/Variant

rs200930565

Species
Homo sapiens
Symbol
rs200930565
Category
Variant
Variant type
SNP
Overlaps
SMG7
Location
1:183529400
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant&splice region variant
See all consequences
HGVS.g name
  • (GRCh38)1:183529400G>A
HGVS.c name
  • ENSEMBL:ENST00000347615.6:c.710G>A
  • ENSEMBL:ENST00000367537.7:c.797G>A
HGVS.p name
  • ENSP00000340766:p.Arg237Gln
  • ENSP00000356507:p.Arg266Gln
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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