Product Details

SNP ID
rs191359872
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:91436094 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATGAATGGAGTGCGGCTCAACAAC[C/T]GCCAGGTGTATGTTGGCAGATTCAA
Phenotype
MIM: 300407
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PABPC5 PubMed Links

Gene Details

Gene
PABPC5
Gene Name
poly(A) binding protein cytoplasmic 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_080832.2 957 Missense Mutation CGC,TGC R173C NP_543022.1
Gene
PABPC5-AS1
Gene Name
PABPC5 antisense RNA 1
There are no transcripts associated with this gene.

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