Product Details

SNP ID

rs112966405

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:21513543 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTGCCCCAGCGGCCCGGCCCTCT[G/T]GGCTGGCTCGGGCCCCTCGTTCTCT

Phenotype

MIM: 604612

Polymorphism

G/T, Transversion Substitution

Allele Nomenclature

Literature Links

NKX2-2 PubMed Links

Additional Information

For this assay, SNP(s) [rs8192562] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

NKX2-2

Gene Name

NK2 homeobox 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002509.3	484	Missense Mutation	AAG,CAG	K43Q	NP_002500.1
XM_006723566.3	484	Intron			XP_006723629.1

View Full Product Details