Allele/Variant

rs768000842

Species
Homo sapiens
Symbol
rs768000842
Category
Variant
Variant type
SNP
Overlaps
COBLL1
Location
2:164700750
Nucleotide Change
A>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000002.12:g.164700750A>C
HGVS.c name
  • ENSEMBL:ENST00000342193.8:c.1349T>G
  • ENSEMBL:ENST00000375458.6:c.1232T>G
HGVS.p name
  • ENSP00000341360:p.Ile450Arg
  • ENSP00000364607:p.Ile411Arg
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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