Allele/Variant

rs2044909

Species
Homo sapiens
Symbol
rs2044909
Category
Variant
Variant type
SNP
Overlaps
KIAA0825
Location
5:94524094
Nucleotide Change
T>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)5:94524094T>C
HGVS.c name
  • ENSEMBL:ENST00000329378.7:c.136A>G
  • ENSEMBL:ENST00000513200.7:c.136A>G
HGVS.p name
  • ENSP00000331385:p.Lys46Glu
  • ENSP00000424618:p.Lys46Glu
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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