Product Details

SNP ID

rs148291922

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:21513463 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCAGCCAGCGCGTGTACGGGTTGTC[C/G]CTGCTGTCGTAGAAGGGGTTCTTCA

Phenotype

MIM: 604612

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

NKX2-2 PubMed Links

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	564	Missense Mutation	AGC,AGG	S69R	NP_002500.1
XM_006723566.3	564	Intron			XP_006723629.1

View Full Product Details