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SNP ID: rs183360
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.16:53517 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: TGCACGTAGGGGCACGTGTTGCAGG[A/C]GAAGCGGTGGCAGCGTTGTCCCTCC
Phenotype: MIM: 606007 MIM: 614403
Polymorphism: A/C, Transversion 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	116	Missense Mutation			NP_057394.3

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	116	Intron			NP_078847.1

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