Allele/Variant

rs761247075

Species
Homo sapiens
Symbol
rs761247075
Category
Variant
Variant type
SNP
Overlaps
PHF1
Location
6:33415077
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)6:33415077C>T
HGVS.c name
  • ENSEMBL:ENST00000374512.7:c.1161C>T
  • ENSEMBL:ENST00000374516.8:c.1172C>T
HGVS.p name
  • ENSP00000363636:p.Leu387=
  • ENSP00000363640:p.Ser391Leu
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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