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SNP ID: rs200787086
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:43524501 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGCAACCAGCAATGAGGCGTTTGAA[A/T]TGGTCCTTTCGGCGCTTGTCAGCCA
Phenotype: MIM: 610060 MIM: 607845 MIM: 609775
Polymorphism: A/T, Transversion substitution
Allele Nomenclature
Literature Links: POLR1C PubMed Links

Gene Details

Gene: POLR1C
Gene Name: RNA polymerase I subunit C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001318876.1	3658	Intron			NP_001305805.1
NM_203290.3	3658	Intron			NP_976035.1
XM_011515000.2	3658	Intron			XP_011513302.1

Gene: XPO5
Gene Name: exportin 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020750.2	3658	Missense Mutation	CAA,CAT	Q1149H	NP_065801.1

Gene: YIPF3
Gene Name: Yip1 domain family member 3

There are no transcripts associated with this gene.

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