Allele/Variant

rs141144474

Species
Homo sapiens
Symbol
rs141144474
Category
Variant
Variant type
SNP
Overlaps
CFAP57
Location
1:43206870
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)1:43206870G>A
HGVS.c name
  • ENSEMBL:ENST00000372492.9:c.1693G>A
  • ENSEMBL:ENST00000461557.2:n.233+4580C>T
HGVS.p name
  • ENSP00000361570:p.Asp565Asn
  • ENSP00000435310:p.Asp565Asn
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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