Product Details

SNP ID

rs180814388

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17250318 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCTTCGAGCACCGCCACCTCCTC[A/G]GCCTGCTGAGCCTCCATGAGTGCCA

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	2044	Silent Mutation	GCC,GCT	A609A	NP_001284632.1
NM_001321417.1	2044	Silent Mutation	GCC,GCT	A673A	NP_001308346.1
NM_031941.3	2044	Silent Mutation	GCC,GCT	A673A	NP_114147.2
XM_011528351.2	2044	Intron			XP_011526653.1

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