Allele/Variant

rs372323969

Species
Homo sapiens
Symbol
rs372323969
Category
Variant
Variant type
SNP
Overlaps
ERC1
Location
12:1028450
Nucleotide Change
A>G
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000012.12:g.1028450A>G
HGVS.c name
  • ENSEMBL:ENST00000347735.10:n.953A>G
  • ENSEMBL:ENST00000355446.9:c.547A>G
HGVS.p name
  • ENSP00000347621:p.Met183Val
  • ENSP00000354158:p.Met183Val
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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