Product Details

SNP ID

hCV25921946

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:173232870 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCCCTAGGCATGGCTTGCCATCG[C/T]GCACCAGCACTGGCACCGCGATCCT

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	1158	UTR 3			NP_001159647.1
NM_001166176.1	1158	UTR 3			NP_001159648.1
NM_004387.3	1158	Missense Mutation	CAC,CGC	H225R	NP_004378.1

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