Allele/Variant

rs2129114146

Species
Homo sapiens
Symbol
rs2129114146
Category
Variant
Variant type
SNP
Overlaps
KMT2C
Location
7:152177061
Nucleotide Change
C>G
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000007.14:g.152177061C>G
HGVS.c name
  • ENSEMBL:ENST00000262189.11:c.8392G>C
  • ENSEMBL:ENST00000355193.1:c.8611G>C
HGVS.p name
  • ENSP00000262189:p.Glu2798Gln
  • ENSP00000347325:p.Glu2871Gln
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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