Product Details

SNP ID

rs147171585

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:39765887 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCACACATGTTACACTCGAAAGGG[G/T]CACGGAAGCCGTGGCAGCCCATGTG

Phenotype

MIM: 606221

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

IKZF3 PubMed Links

Gene Details

Gene

IKZF3

Gene Name

IKAROS family zinc finger 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001257408.1	1276	Missense Mutation	GAC,GCC	D444A	NP_001244337.1
NM_001257409.1	1276	Missense Mutation	GAC,GCC	D405A	NP_001244338.1
NM_001257410.1	1276	Missense Mutation	GAC,GCC	D391A	NP_001244339.1
NM_001257411.1	1276	Missense Mutation	GAC,GCC	D335A	NP_001244340.1
NM_001257412.1	1276	Missense Mutation	GAC,GCC	D296A	NP_001244341.1
NM_001257413.1	1276	Missense Mutation	GAC,GCC	D257A	NP_001244342.1
NM_001257414.1	1276	Missense Mutation	GAC,GCC	D344A	NP_001244343.1
NM_001284514.1	1276	Missense Mutation	GAC,GCC	D231A	NP_001271443.1
NM_001284515.1	1276	Missense Mutation	GAC,GCC	D231A	NP_001271444.1
NM_001284516.1	1276	Missense Mutation	GAC,GCC	D231A	NP_001271445.1
NM_012481.4	1276	Missense Mutation	GAC,GCC	D478A	NP_036613.2
NM_183228.2	1276	Missense Mutation	GAC,GCC	D422A	NP_899051.1
NM_183229.2	1276	Missense Mutation	GAC,GCC	D439A	NP_899052.1
NM_183230.2	1276	Missense Mutation	GAC,GCC	D439A	NP_899053.1
NM_183231.2	1276	Missense Mutation	GAC,GCC	D383A	NP_899054.1
NM_183232.2	1276	Missense Mutation	GAC,GCC	D400A	NP_899055.1

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