Allele/Variant

rs2044250283

Species
Homo sapiens
Symbol
rs2044250283
Category
Variant
Variant type
SNP
Overlaps
WDR7
Location
18:56776857
Nucleotide Change
A>G
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000018.10:g.56776857A>G
HGVS.c name
  • ENSEMBL:ENST00000254442.8:c.2924A>G
  • ENSEMBL:ENST00000357574.7:c.2849-2574A>G
HGVS.p name
  • ENSP00000254442:p.His975Arg
  • ENSP00000481823:p.His300Arg
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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