Product Details

SNP ID

rs146846062

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:55326542 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCCGCTGCAGCTGCCCAGAGCTA[C/G]CCTGGCTACCTGCCCTATAGCCCAG

Phenotype

MIM: 606196

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

IRX6 PubMed Links

Gene Details

Gene

IRX6

Gene Name

iroquois homeobox 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024335.2	785	Nonsense Mutation	TAC,TAG	Y84*	NP_077311.2
XM_005256137.2	785	Nonsense Mutation	TAC,TAG	Y84*	XP_005256194.1

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