Allele/Variant

rs148969047

Species
Homo sapiens
Symbol
rs148969047
Category
Variant
Variant type
SNP
Overlaps
CIBAR2
Location
16:85100179
Nucleotide Change
G>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)16:85100179G>C
HGVS.c name
  • ENSEMBL:ENST00000539556.6:c.713C>G
  • ENSEMBL:ENST00000618669.3:c.430C>G
HGVS.p name
  • ENSP00000443411:p.Thr238Ser
  • ENSP00000478373:p.Pro144Ala
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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