Product Details

SNP ID
rs145819196
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.20:21512015 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTACTGGGCGTTGTACTGCATGT[A/G]CTGCAGCGACTGCGCGCTGTAGGCA
Phenotype
MIM: 604612
Polymorphism
A/G, Transition 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_002509.3 744 Missense Mutation CAC,TAC H244Y NP_002500.1
XM_006723566.3 744 Missense Mutation CAC,TAC H173Y XP_006723629.1

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