Allele/Variant

rs1488643549

Species
Homo sapiens
Symbol
rs1488643549
Category
Variant
Variant type
SNP
Overlaps
OSTM1
Location
6:108074321
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)6:108074321G>A
HGVS.c name
  • ENSEMBL:ENST00000193322.8:c.331C>T
  • ENSEMBL:ENST00000440575.6:c.-39-10022C>T
HGVS.p name
  • ENSP00000193322:p.Leu111Phe
  • ENSP00000514445:p.Leu111Phe
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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