Product Details

SNP ID

rs201748669

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:54284246 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCCTCAACCTCGGGGTTTCTTAC[C/T]GCCTGGGCACGGGCTGGAAAGCTGT

Phenotype

MIM: 612985

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

IRX3 PubMed Links

Gene Details

Gene

IRX3

Gene Name

iroquois homeobox 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024336.2	2173	Missense Mutation	CAG,CGG	Q484R	NP_077312.2
XM_005256139.3	2173	Missense Mutation	CAC,CGC	H484R	XP_005256196.1

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