Product Details

SNP ID

rs184019244

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:91435612 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGGAGCCTAATCCTGCTGGCAAGA[A/G]AAAGAAGTATCTCAAGGCCGCTCTG

Phenotype

MIM: 300407

Polymorphism

A/G, 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	475	Missense Mutation	AAA,AGA	K12R	NP_543022.1

Gene

PABPC5-AS1

Gene Name

PABPC5 antisense RNA 1

There are no transcripts associated with this gene.

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