Product Details

SNP ID

rs187115849

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:4860009 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCTTTGGTGATGGAGAAATGGCA[A/G]GCTGAGAGACAGCGTGAGGAATACT

Phenotype

MIM: 607436 MIM: 611491

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PAPOLB PubMed Links

Gene Details

Gene

PAPOLB

Gene Name

poly(A) polymerase beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020144.4	1986	Missense Mutation	CCT,CTT	P601L	NP_064529.4

Gene

RADIL

Gene Name

Rap associating with DIL domain

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018059.4	1986	Intron			NP_060529.4

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