Allele/Variant

rs2126505973

Species
Homo sapiens
Symbol
rs2126505973
Category
Variant
Variant type
SNP
Overlaps
RETREG1
Location
5:16475144
Nucleotide Change
T>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)5:16475144T>A
HGVS.c name
  • ENSEMBL:ENST00000306320.10:c.1091A>T
  • ENSEMBL:ENST00000399793.6:c.668A>T
HGVS.p name
  • ENSP00000304642:p.Glu364Val
  • ENSP00000382691:p.Glu223Val
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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