Product Details

SNP ID

rs201593266

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:37486801 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAACCCCAGGAAGAGGAATCAACGG[A/G]TCCTGGTAAGTGAAGCAGTTGCCAG

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

POLR1E PubMed Links

Gene Details

Gene

POLR1E

Gene Name

RNA polymerase I subunit E

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282766.1	288	UTR 5			NP_001269695.1
NM_022490.2	288	Missense Mutation	ATC,GTC	I59V	NP_071935.1
XM_005251547.2	288	Missense Mutation	ATC,GTC	I121V	XP_005251604.1

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