Allele/Variant

rs201490932

Species
Homo sapiens
Symbol
rs201490932
Category
Variant
Variant type
SNP
Overlaps
CFAP144
Location
1:43156206
Nucleotide Change
A>G
Most Severe Consequence
  • missense variant&splice region variant
See all consequences
HGVS.g name
  • (GRCh38)1:43156206A>G
HGVS.c name
  • ENSEMBL:ENST00000335282.5:c.298A>G
  • ENSEMBL:ENST00000409337.5:n.286A>G
HGVS.p name
  • ENSP00000334415:p.Ile100Val
  • ENSP00000387249:p.Ile72Val
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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