Product Details

SNP ID

rs143227190

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:21513434 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGGGAGTACTGAAGGCCCTCGGTG[C/T]TGGCCAGCCAGCGCGTGTACGGGTT

Phenotype

MIM: 604612

Polymorphism

C/T, Transition 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	593	Missense Mutation	AAC,AGC	N79S	NP_002500.1
XM_006723566.3	593	Intron			XP_006723629.1

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