Allele/Variant

rs375660558

Species
Homo sapiens
Symbol
rs375660558
Category
Variant
Variant type
SNP
Overlaps
CFAP144
Location
1:43150793
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000001.11:g.43150793C>T
HGVS.c name
  • ENSEMBL:ENST00000335282.5:c.166C>T
  • ENSEMBL:ENST00000409337.5:n.258C>T
HGVS.p name
  • ENSP00000334415:p.His56Tyr
  • ENSP00000387249:p.His28Tyr
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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