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SNP ID

rs80306728

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17235885 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCCGCGCCGCCCCCTGCGCCGAAG[C/T]GTCCGGCCGCCGCAGGGTAGGGCTC

Phenotype

MIM: 132880

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

NR2F6 PubMed Links

Gene Details

Gene

NR2F6

Gene Name

nuclear receptor subfamily 2 group F member 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005234.3	676	Missense Mutation	CAC,CGC	H185R	NP_005225.2

Gene

OCEL1

Gene Name

occludin/ELL domain containing 1

There are no transcripts associated with this gene.

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