Allele/Variant

rs200927591

Species
Homo sapiens
Symbol
rs200927591
Category
Variant
Variant type
SNP
Overlaps
KIAA1191
Location
5:176347721
Nucleotide Change
T>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)5:176347721T>C
HGVS.c name
  • ENSEMBL:ENST00000298569.9:c.797A>G
  • ENSEMBL:ENST00000393725.6:c.740A>G
HGVS.p name
  • ENSP00000298569:p.Asp266Gly
  • ENSP00000377326:p.Asp247Gly
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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