Allele/Variant

rs1554129049

Species
Homo sapiens
Symbol
rs1554129049
Category
Variant
Variant type
SNP
Overlaps
PURA
Location
5:140114405
Nucleotide Change
T>G
Most Severe Consequence
  • splice region variant&non coding transcript exon variant
See all consequences
HGVS.g name
  • (GRCh38)5:140114405T>G
HGVS.c name
  • ENSEMBL:ENST00000331327.5:c.224T>G
  • ENSEMBL:ENST00000505703.2:c.224T>G
HGVS.p name
  • ENSP00000332706:p.Leu75Arg
  • ENSP00000498560:p.Leu75Arg
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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