Product Details

SNP ID

rs144257869

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:39766242 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGGAAGGTGGATGCTTTTCTTTT[C/T]CAGCTCTTGAGGGGCACCGTTTGAC

Phenotype

MIM: 606221

Polymorphism

C/T, Transition 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	921	Missense Mutation	AAA,GAA	K326E	NP_001244337.1
NM_001257409.1	921	Missense Mutation	AAA,GAA	K287E	NP_001244338.1
NM_001257410.1	921	Missense Mutation	AAA,GAA	K273E	NP_001244339.1
NM_001257411.1	921	Missense Mutation	AAA,GAA	K217E	NP_001244340.1
NM_001257412.1	921	Missense Mutation	AAA,GAA	K178E	NP_001244341.1
NM_001257413.1	921	Missense Mutation	AAA,GAA	K139E	NP_001244342.1
NM_001257414.1	921	Missense Mutation	AAA,GAA	K226E	NP_001244343.1
NM_001284514.1	921	Missense Mutation	AAA,GAA	K113E	NP_001271443.1
NM_001284515.1	921	Missense Mutation	AAA,GAA	K113E	NP_001271444.1
NM_001284516.1	921	Missense Mutation	AAA,GAA	K113E	NP_001271445.1
NM_012481.4	921	Missense Mutation	AAA,GAA	K360E	NP_036613.2
NM_183228.2	921	Missense Mutation	AAA,GAA	K304E	NP_899051.1
NM_183229.2	921	Missense Mutation	AAA,GAA	K321E	NP_899052.1
NM_183230.2	921	Missense Mutation	AAA,GAA	K321E	NP_899053.1
NM_183231.2	921	Missense Mutation	AAA,GAA	K265E	NP_899054.1
NM_183232.2	921	Missense Mutation	AAA,GAA	K282E	NP_899055.1

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