Allele/Variant

rs1285766725

Species
Homo sapiens
Symbol
rs1285766725
Category
Variant
Variant type
SNP
Overlaps
UTP18
Location
17:51285327
Nucleotide Change
A>C
Most Severe Consequence
  • stop lost
See all consequences
HGVS.g name
  • (GRCh38)17:51285327A>C
HGVS.c name
  • ENSEMBL:ENST00000225298.12:c.1287A>C
  • ENSEMBL:ENST00000508506.3:n.399A>C
HGVS.p name
  • ENSP00000225298:p.Leu429Phe
  • ENSP00000462614:p.Leu139Phe
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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