Product Details

SNP ID
rs111682498
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:36581188 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGTCAGGCGACTCCGCCGCCCCT[A/G]GAGCGCGAGCGCGCTTCAGCTTGTA
Phenotype
MIM: 603245
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NKX2-8 PubMed Links

Gene Details

Gene
NKX2-8
Gene Name
NK2 homeobox 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014360.3 659 Missense Mutation CCA,CTA P145L NP_055175.2

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