Product Details

SNP ID
rs142368156
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.5:173232612 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGCAGCGTGGACACTCCCGAGTTG[C/T]TCTGCGGAATCCCGGGGCTCTGAAC
Phenotype
MIM: 600584
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
NKX2-5 PubMed Links

Gene Details

Gene
NKX2-5
Gene Name
NK2 homeobox 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001166175.1 1416 UTR 3 NP_001159647.1
NM_001166176.1 1416 UTR 3 NP_001159648.1
NM_004387.3 1416 Missense Mutation AAC,AGC N311S NP_004378.1
XM_017009071.1 1416 Intron XP_016864560.1

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