Allele/Variant

rs2126749442

Species
Homo sapiens
Symbol
rs2126749442
Category
Variant
Variant type
SNP
Overlaps
PURA
Location
5:140115005
Nucleotide Change
C>A
Most Severe Consequence
  • stop gained
See all consequences
HGVS.g name
  • (GRCh38)5:140115005C>A
HGVS.c name
  • ENSEMBL:ENST00000331327.5:c.824C>A
  • ENSEMBL:ENST00000651386.1:c.824C>A
HGVS.p name
  • ENSP00000332706:p.Ser275Ter
  • ENSP00000499133:p.Ser275Ter
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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