Allele/Variant

rs1033702848

Species
Homo sapiens
Symbol
rs1033702848
Category
Variant
Variant type
SNP
Overlaps
GSPT2
Location
X:51743814
Nucleotide Change
T>C
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • (GRCh38)X:51743814T>C
HGVS.c name
  • ENSEMBL:ENST00000340438.6:c.188T>C
  • RefSeq:NM_018094.5:c.188T>C
HGVS.p name
  • ENSP00000341247:p.Val63Ala
  • NP_060564:p.Val63Ala
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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