Allele/Variant

rs888240313

Species
Homo sapiens
Symbol
rs888240313
Category
Variant
Variant type
SNP
Overlaps
GMDS
Location
6:1742484
Nucleotide Change
T>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)6:1742484T>C
HGVS.c name
  • ENSEMBL:ENST00000380805.6:n.1000A>G
  • ENSEMBL:ENST00000380815.5:c.874A>G
HGVS.p name
  • ENSP00000370194:p.Ile292Val
  • ENSP00000436726:p.Ile262Val
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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