Allele/Variant

rs978088331

Species
Homo sapiens
Symbol
rs978088331
Category
Variant
Variant type
SNP
Overlaps
UTP18
Location
17:51273427
Nucleotide Change
T>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)17:51273427T>A
HGVS.c name
  • ENSEMBL:ENST00000225298.12:c.688T>A
  • RefSeq:NM_016001.3:c.688T>A
HGVS.p name
  • ENSP00000225298:p.Ser230Thr
  • NP_057085:p.Ser230Thr
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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