Version: 8.0.0
Date: Tue Jan 28 2025
rs1336205358
Variant overlaps ST3GAL5
Homo sapiens
SummaryVariant Molecular Consequences
Allele/Variant

rs1336205358

Species
Homo sapiens
Symbol
rs1336205358
Category
Variant
Variant type
SNP
Overlaps
ST3GAL5
Location
2:85846392
Nucleotide Change
T>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000002.12:g.85846392T>C
HGVS.c name
  • ENSEMBL:ENST00000377332.8:c.714A>G
  • ENSEMBL:ENST00000393805.6:c.750A>G
HGVS.p name
  • ENSP00000366549:p.Val238=
  • ENSP00000377394:p.Val250=
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:ENST00000377332.8
protein_codingST3GAL5Exon 5/7
  • synonymous variant
712gtAN/A
[238]VN/A
=>
gtG
V
ENSEMBL:ENST00000393805.6
protein_codingST3GAL5Exon 5/7
  • synonymous variant
748gtAN/A
[250]VN/A
=>
gtG
V
ENSEMBL:ENST00000393808.8
protein_codingST3GAL5Exon 5/7
  • synonymous variant
763gtAN/A
[255]VN/A
=>
gtG
V
ENSEMBL:ENST00000461206.1
transcriptST3GAL5Exon 3/5
  • non coding transcript exon variant
ENSEMBL:ENST00000638178.1
protein_codingST3GAL5Exon 5/6
  • synonymous variant
748gtAN/A
[250]VN/A
=>
gtG
V
ENSEMBL:ENST00000638227.1
transcriptST3GAL5Exon 6/8
  • non coding transcript exon variant
ENSEMBL:ENST00000638288.1
transcriptST3GAL5Exon 8/10
  • non coding transcript exon variant
ENSEMBL:ENST00000638321.1
transcriptST3GAL5Exon 4/6
  • non coding transcript exon variant
ENSEMBL:ENST00000638523.1
transcriptST3GAL5Exon 6/8
  • non coding transcript exon variant
ENSEMBL:ENST00000638572.2
protein_codingST3GAL5Exon 5/7
  • synonymous variant
832gtAN/A
[278]VN/A
=>
gtG
V
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