Allele/Variant

rs781669513

Species
Homo sapiens
Symbol
rs781669513
Category
Variant
Variant type
SNP
Overlaps
CFAP57
Location
1:43172417
Nucleotide Change
T>C
Most Severe Consequence
  • 5 prime UTR variant
See all consequences
HGVS.g name
  • (GRCh38)1:43172417T>C
HGVS.c name
  • ENSEMBL:ENST00000372492.9:c.-56T>C
  • ENSEMBL:ENST00000431635.6:c.5A>G
HGVS.p name
  • ENSP00000407323:p.Tyr2Cys
  • NP_001153408:p.Tyr2Cys
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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