Allele/Variant

rs370504499

Species
Homo sapiens
Symbol
rs370504499
Category
Variant
Variant type
SNP
Overlaps
PLCL1
Location
2:198088983
Nucleotide Change
G>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)2:198088983G>T
HGVS.c name
  • ENSEMBL:ENST00000428675.6:c.2841G>T
  • ENSEMBL:ENST00000435320.1:n.3296G>T
HGVS.p name
  • ENSP00000402861:p.Met947Ile
  • ENSP00000414138:p.Met870Ile
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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