Allele/Variant

rs147618525

Species
Homo sapiens
Symbol
rs147618525
Category
Variant
Variant type
SNP
Overlaps
OSTM1
Location
6:108049405
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000006.12:g.108049405C>T
HGVS.c name
  • ENSEMBL:ENST00000193322.8:c.797G>A
  • ENSEMBL:ENST00000440575.6:c.356G>A
HGVS.p name
  • ENSP00000193322:p.Arg266Gln
  • ENSP00000398556:p.Arg119Gln
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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