Allele/Variant

rs146439858

Species
Homo sapiens
Symbol
rs146439858
Category
Variant
Variant type
SNP
Overlaps
MRPS27
Location
5:72223817
Nucleotide Change
T>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000005.10:g.72223817T>C
HGVS.c name
  • ENSEMBL:ENST00000261413.10:c.871A>G
  • ENSEMBL:ENST00000457646.9:c.703A>G
HGVS.p name
  • :p.Thr235Ala
  • ENSP00000261413:p.Thr291Ala
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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