Allele/Variant

rs267600465

Species
Homo sapiens
Symbol
rs267600465
Category
Variant
Variant type
SNP
Overlaps
NDFIP1
Location
5:142144643
Nucleotide Change
T>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)5:142144643T>A
HGVS.c name
  • ENSEMBL:ENST00000253814.6:c.635T>A
  • ENSEMBL:ENST00000503388.1:n.1666T>A
HGVS.p name
  • ENSP00000253814:p.Leu212His
  • NP_085048:p.Leu212His
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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