Allele/Variant

rs1182793569

Species
Homo sapiens
Symbol
rs1182793569
Category
Variant
Variant type
SNP
Overlaps
OBSL1
Location
2:219570580
Nucleotide Change
G>A
Most Severe Consequence
  • intron variant&non coding transcript variant
See all consequences
HGVS.g name
  • (GRCh38)2:219570580G>A
HGVS.c name
  • ENSEMBL:ENST00000289656.3:c.-228+814C>T
  • ENSEMBL:ENST00000373873.8:c.653C>T
HGVS.p name
  • ENSP00000362980:p.Ala218Val
  • ENSP00000362983:p.Ala218Val
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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