Allele/Variant

rs759998712

Species
Homo sapiens
Symbol
rs759998712
Category
Variant
Variant type
SNP
Overlaps
CIBAR2
Location
16:85100147
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)16:85100147C>T
HGVS.c name
  • ENSEMBL:ENST00000539556.6:c.745G>A
  • ENSEMBL:ENST00000618669.3:c.462G>A
HGVS.p name
  • ENSP00000443411:p.Ala249Thr
  • ENSP00000478373:p.Ser154=
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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