Product Details

SNP ID

rs114183106

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:39766028 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACGGAGTCTCTTGGGCAGATGGGC[A/G]GGGGCTTGAGGAGTTCGTAAGAGCG

Phenotype

MIM: 606221

Polymorphism

A/G, 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	1135	Missense Mutation	CCG,CTG	P397L	NP_001244337.1
NM_001257409.1	1135	Missense Mutation	CCG,CTG	P358L	NP_001244338.1
NM_001257410.1	1135	Missense Mutation	CCG,CTG	P344L	NP_001244339.1
NM_001257411.1	1135	Missense Mutation	CCG,CTG	P288L	NP_001244340.1
NM_001257412.1	1135	Missense Mutation	CCG,CTG	P249L	NP_001244341.1
NM_001257413.1	1135	Missense Mutation	CCG,CTG	P210L	NP_001244342.1
NM_001257414.1	1135	Missense Mutation	CCG,CTG	P297L	NP_001244343.1
NM_001284514.1	1135	Missense Mutation	CCG,CTG	P184L	NP_001271443.1
NM_001284515.1	1135	Missense Mutation	CCG,CTG	P184L	NP_001271444.1
NM_001284516.1	1135	Missense Mutation	CCG,CTG	P184L	NP_001271445.1
NM_012481.4	1135	Missense Mutation	CCG,CTG	P431L	NP_036613.2
NM_183228.2	1135	Missense Mutation	CCG,CTG	P375L	NP_899051.1
NM_183229.2	1135	Missense Mutation	CCG,CTG	P392L	NP_899052.1
NM_183230.2	1135	Missense Mutation	CCG,CTG	P392L	NP_899053.1
NM_183231.2	1135	Missense Mutation	CCG,CTG	P336L	NP_899054.1
NM_183232.2	1135	Missense Mutation	CCG,CTG	P353L	NP_899055.1

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