Product Details

SNP ID

rs144406744

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:47531 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTGAAGCTGCATGAAGTAAGCAC[A/G]AGGATGTTCGCATTTGGGACACGAC

Phenotype

MIM: 606007

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

POLR3K PubMed Links

Gene Details

Gene

POLR3K

Gene Name

RNA polymerase III subunit K

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016310.4	272	Missense Mutation	CGT,TGT	R76C	NP_057394.3

Gene

SNRNP25

Gene Name

small nuclear ribonucleoprotein U11/U12 subunit 25

There are no transcripts associated with this gene.

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