Allele/Variant

rs1323710574

Species
Homo sapiens
Symbol
rs1323710574
Category
Variant
Variant type
SNP
Overlaps
NUP188
Location
9:128999254
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)9:128999254G>A
HGVS.c name
  • ENSEMBL:ENST00000372577.2:c.3598G>A
  • ENSEMBL:ENST00000477069.5:n.1566G>A
HGVS.p name
  • ENSP00000361658:p.Glu1200Lys
  • NP_056169:p.Glu1200Lys
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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