Product Details

SNP ID
rs202151004
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:36581372 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGAATAGCACCCGCCGCTTCTTCC[C/T]TTTCTCGGCGTCCGAGCCCGGAGAC
Phenotype
MIM: 603245
Polymorphism
C/T, 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_014360.3 475 Missense Mutation AGG,GGG R84G NP_055175.2

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