Allele/Variant

rs146942442

Species
Homo sapiens
Symbol
rs146942442
Category
Variant
Variant type
SNP
Overlaps
EFR3A
Location
8:131984278
Nucleotide Change
T>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)8:131984278T>C
HGVS.c name
  • ENSEMBL:ENST00000254624.10:c.1715T>C
  • ENSEMBL:ENST00000519656.1:c.1607T>C
HGVS.p name
  • ENSP00000254624:p.Ile572Thr
  • ENSP00000428086:p.Ile536Thr
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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