Product Details

SNP ID
rs199931909
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:54285134 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTCCAAATCGATCTCCTCGTCCTC[C/G]TCGTCGTCAGCCAGGCCCTCGCCCC
Phenotype
MIM: 612985
Polymorphism
C/G, Transversion 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 1469 Missense Mutation GAC,GAG D249E NP_077312.2
XM_005256139.3 1469 Missense Mutation GAC,GAG D249E XP_005256196.1

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