Product Details

SNP ID

hCV27530830

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:71811810 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTGCCCCGTGGACAAGGCCCACC[A/G]CAACCAGTGCCAGGCCTGCCGGCTG

Phenotype

MIM: 604485

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NR2E3 PubMed Links

Gene Details

Gene

NR2E3

Gene Name

nuclear receptor subfamily 2 group E member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014249.3	486	Missense Mutation	CAC,CGC	H97R	NP_055064.1
NM_016346.3	486	Missense Mutation	CAC,CGC	H97R	NP_057430.1

View Full Product Details