Product Details

SNP ID

rs76293865

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:4860080 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTTTCATTGGTATTCACCTGTTG[A/C]AAGGAAAATTCAGTAGCCTGTATGT

Phenotype

MIM: 607436 MIM: 611491

Polymorphism

A/C, Transversion 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	1915	Missense Mutation	TTG,TTT	L577F	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	1915	Intron			NP_060529.4

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