Allele/Variant

rs200844970

Species
Homo sapiens
Symbol
rs200844970
Category
Variant
Variant type
SNP
Overlaps
MRPS27
Location
5:72226110
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)5:72226110C>T
HGVS.c name
  • ENSEMBL:ENST00000261413.10:c.784G>A
  • ENSEMBL:ENST00000457646.9:c.616G>A
HGVS.p name
  • :p.Val206Met
  • ENSP00000261413:p.Val262Met
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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