Allele/Variant

rs2126511545

Species
Homo sapiens
Symbol
rs2126511545
Category
Variant
Variant type
SNP
Overlaps
RETREG1
Location
5:16478048
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000005.10:g.16478048C>T
HGVS.c name
  • ENSEMBL:ENST00000306320.10:c.859G>A
  • ENSEMBL:ENST00000399793.6:c.436G>A
HGVS.p name
  • ENSP00000304642:p.Ala287Thr
  • ENSP00000382691:p.Ala146Thr
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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