Product Details

SNP ID
rs201693783
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.19:17250382 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCCGGCGTTGCTCTTCCTGCTTC[C/T]GGTGGGCTCCTCGGAAGGCCAGGAC
Phenotype
MIM: 132880 MIM: 611810
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
There are no transcripts associated with this gene.

Gene
USHBP1
Gene Name
USH1 protein network component harmonin binding protein 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297703.1 1980 Missense Mutation CAG,CGG Q588R NP_001284632.1
NM_001321417.1 1980 Missense Mutation CAG,CGG Q652R NP_001308346.1
NM_031941.3 1980 Missense Mutation CAG,CGG Q652R NP_114147.2
XM_011528351.2 1980 Intron XP_011526653.1

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