Allele/Variant

rs538460661

Species
Homo sapiens
Symbol
rs538460661
Category
Variant
Variant type
SNP
Overlaps
STXBP5
Location
6:147339185
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)6:147339185C>T
HGVS.c name
  • ENSEMBL:ENST00000321680.11:c.2153C>T
  • ENSEMBL:ENST00000367475.7:n.2153C>T
HGVS.p name
  • ENSP00000321826:p.Ser718Leu
  • XP_047274155:p.Ser746Leu
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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