Product Details

SNP ID
rs201064818
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:21513562 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTCTTGGCTGGCTCGGGCCCCTC[G/T]TTCTCTTCCTCCGGACCTTCGGCCA
Phenotype
MIM: 604612
Polymorphism
G/T, 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_002509.3 465 Silent Mutation AAG,AAT K36N NP_002500.1
XM_006723566.3 465 Intron XP_006723629.1

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