Allele/Variant

rs139949770

Species
Homo sapiens
Symbol
rs139949770
Category
Variant
Variant type
SNP
Overlaps
NUP188
Location
9:129005399
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000009.12:g.129005399G>A
HGVS.c name
  • ENSEMBL:ENST00000372577.2:c.4606G>A
  • RefSeq:NM_015354.3:c.4606G>A
HGVS.p name
  • ENSP00000361658:p.Ala1536Thr
  • NP_056169:p.Ala1536Thr
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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