Product Details

SNP ID

rs149117445

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:55459 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTTCTGCCCTTGGTCTTTTGTAG[A/G]TTACTCTGGAAGAAGTCAACTCCCA

Phenotype

MIM: 606007 MIM: 614403

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

POLR3K PubMed Links

Gene Details

Gene

POLR3K

Gene Name

RNA polymerase III subunit K

There are no transcripts associated with this gene.

Gene

RHBDF1

Gene Name

rhomboid 5 homolog 1

There are no transcripts associated with this gene.

Gene

SNRNP25

Gene Name

small nuclear ribonucleoprotein U11/U12 subunit 25

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024571.3	231	Missense Mutation	ATT,GTT	I24V	NP_078847.1

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