Allele/Variant

rs757280079

Species
Homo sapiens
Symbol
rs757280079
Category
Variant
Variant type
SNP
Overlaps
CFAP97
Location
4:185190175
Nucleotide Change
T>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)4:185190175T>C
HGVS.c name
  • ENSEMBL:ENST00000458385.7:c.1022A>G
  • ENSEMBL:ENST00000514798.1:c.1022A>G
HGVS.p name
  • ENSP00000409964:p.His341Arg
  • ENSP00000423312:p.His341Arg
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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