Allele/Variant

rs369816290

Species
Homo sapiens
Symbol
rs369816290
Category
Variant
Variant type
SNP
Overlaps
MRPS27
Location
5:72221038
Nucleotide Change
G>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000005.10:g.72221038G>C
HGVS.c name
  • ENSEMBL:ENST00000261413.10:c.1116C>G
  • ENSEMBL:ENST00000457646.9:c.948C>G
HGVS.p name
  • :p.Ile316Met
  • ENSP00000261413:p.Ile372Met
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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