Product Details

SNP ID

rs139343738

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:91436186 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGCAACTTTCACCAATGTTTTCGT[C/T]AAAAACATTGGAGACGACATAGATG

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	1049	Silent Mutation	GTC,GTT	V203V	NP_543022.1

Gene

PABPC5-AS1

Gene Name

PABPC5 antisense RNA 1

There are no transcripts associated with this gene.

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