Allele/Variant

rs142784307

Species
Homo sapiens
Symbol
rs142784307
Category
Variant
Variant type
SNP
Overlaps
EVI5
Location
1:92624334
Nucleotide Change
G>A
Most Severe Consequence
  • missense variant&splice region variant
See all consequences
HGVS.g name
  • (GRCh38)1:92624334G>A
HGVS.c name
  • ENSEMBL:ENST00000370331.5:c.1621C>T
  • ENSEMBL:ENST00000468580.5:n.384C>T
HGVS.p name
  • ENSP00000359356:p.Arg541Cys
  • ENSP00000440826:p.Arg552Cys
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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