Product Details

SNP ID
rs1043963
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:17250307 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GGCCCTTGCAGTGGCTTCGAGCACC[A/G]CCACCTCCTCGGCCTGCTGAGCCTC
Phenotype
MIM: 132880 MIM: 611810
Polymorphism
A/G, 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 2055 Missense Mutation GCG,GTG A613V NP_001284632.1
NM_001321417.1 2055 Missense Mutation GCG,GTG A677V NP_001308346.1
NM_031941.3 2055 Missense Mutation GCG,GTG A677V NP_114147.2
XM_011528351.2 2055 Intron XP_011526653.1

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