Allele/Variant

rs147103223

Species
Homo sapiens
Symbol
rs147103223
Category
Variant
Variant type
SNP
Overlaps
GSPT2
Location
X:51743694
Nucleotide Change
C>T
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)X:51743694C>T
HGVS.c name
  • ENSEMBL:ENST00000340438.6:c.68C>T
  • RefSeq:NM_018094.5:c.68C>T
HGVS.p name
  • ENSP00000341247:p.Pro23Leu
  • NP_060564:p.Pro23Leu
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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