Allele/Variant

rs142077810

Species
Homo sapiens
Symbol
rs142077810
Category
Variant
Variant type
SNP
Overlaps
NUP188
Location
9:129001721
Nucleotide Change
A>G
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)9:129001721A>G
HGVS.c name
  • ENSEMBL:ENST00000372577.2:c.4036A>G
  • ENSEMBL:ENST00000477069.5:n.2004A>G
HGVS.p name
  • ENSP00000361658:p.Thr1346Ala
  • NP_056169:p.Thr1346Ala
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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