Allele/Variant

rs554076042

Species
Homo sapiens
Symbol
rs554076042
Category
Variant
Variant type
SNP
Overlaps
DGCR6L
Location
22:20319976
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)22:20319976C>T
HGVS.c name
  • ENSEMBL:ENST00000248879.8:c.13G>A
  • ENSEMBL:ENST00000405465.3:c.13G>A
HGVS.p name
  • ENSP00000248879:p.Ala5Thr
  • ENSP00000386052:p.Ala5Thr
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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