Version: 8.0.0
Date: Tue Jan 28 2025
rs1763035593
Variant overlaps PURA
Homo sapiens
SummaryVariant Molecular Consequences
Allele/Variant

rs1763035593

Species
Homo sapiens
Symbol
rs1763035593
Category
Variant
Variant type
SNP
Overlaps
PURA
Location
5:140114239
Nucleotide Change
T>C
Most Severe Consequence
  • intron variant&non coding transcript variant
See all consequences
HGVS.g name
  • (GRCh38)5:140114239T>C
HGVS.c name
  • ENSEMBL:ENST00000331327.5:c.58T>C
  • ENSEMBL:ENST00000502351.1:c.58T>C
HGVS.p name
  • ENSP00000332706:p.Ser20Pro
  • ENSP00000498560:p.Ser20Pro
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
ENSEMBL:ENST00000331327.5
protein_codingPURAExon 1/1
  • missense variant
58TccN/A
[20]S/PN/A
=>
Ccc
S/P
ENSEMBL:ENST00000502351.1
protein_codingPURAExon 2/2
  • missense variant
58TccN/A
[20]S/PN/A
=>
Ccc
S/P
ENSEMBL:ENST00000505703.2
protein_codingPURAExon 2/2
  • missense variant
58TccN/A
[20]S/PN/A
=>
Ccc
S/P
ENSEMBL:ENST00000520928.2
lnc_RNAMALINC1Intron 1/3
  • intron variant
ENSEMBL:ENST00000521133.2
lnc_RNAMALINC1Intron 1/3
  • intron variant
ENSEMBL:ENST00000651386.1
protein_codingPURAExon 2/2
  • missense variant
58TccN/A
[20]S/PN/A
=>
Ccc
S/P
ENSEMBL:ENST00000719579.1
lnc_RNAMALINC1Intron 1/4
  • intron variant
RefSeq:NM_005859.5
protein_codingPURAExon 1/1
  • missense variant
58TccN/A
[20]S/PN/A
=>
Ccc
S/P
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