Allele/Variant

rs80001203

Species
Homo sapiens
Symbol
rs80001203
Category
Variant
Variant type
SNP
Overlaps
NUP42
Location
7:23200483
Nucleotide Change
G>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000007.14:g.23200483G>C
HGVS.c name
  • ENSEMBL:ENST00000258742.10:c.1010G>C
  • ENSEMBL:ENST00000413919.1:c.1085G>C
HGVS.p name
  • ENSP00000258742:p.Gly337Ala
  • ENSP00000401475:p.Gly362Ala
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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