Product Details

SNP ID

rs147542347

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:36517391 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGCCCTGCAGCGCCGCGGGGCTGG[A/C]GGCGTGGTGCGCCAGGTCCGGAGAC

Phenotype

MIM: 600635

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

NKX2-1 PubMed Links

Gene Details

Gene

NKX2-1

Gene Name

NK2 homeobox 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001079668.2	1344	Missense Mutation	GCC,TCC	A365S	NP_001073136.1
NM_003317.3	1344	Missense Mutation	GCC,TCC	A335S	NP_003308.1

Gene

NKX2-1-AS1

Gene Name

NKX2-1 antisense RNA 1

There are no transcripts associated with this gene.

Gene

SFTA3

Gene Name

surfactant associated 3

There are no transcripts associated with this gene.

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