Product Details

SNP ID

rs149299224

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:39765945 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACATCACATAGTCCAGGAAGAGGA[C/T]GCGGCAGTGGTCACACCGATACACA

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	1218	Missense Mutation	ATC,GTC	I425V	NP_001244337.1
NM_001257409.1	1218	Missense Mutation	ATC,GTC	I386V	NP_001244338.1
NM_001257410.1	1218	Missense Mutation	ATC,GTC	I372V	NP_001244339.1
NM_001257411.1	1218	Missense Mutation	ATC,GTC	I316V	NP_001244340.1
NM_001257412.1	1218	Missense Mutation	ATC,GTC	I277V	NP_001244341.1
NM_001257413.1	1218	Missense Mutation	ATC,GTC	I238V	NP_001244342.1
NM_001257414.1	1218	Missense Mutation	ATC,GTC	I325V	NP_001244343.1
NM_001284514.1	1218	Missense Mutation	ATC,GTC	I212V	NP_001271443.1
NM_001284515.1	1218	Missense Mutation	ATC,GTC	I212V	NP_001271444.1
NM_001284516.1	1218	Missense Mutation	ATC,GTC	I212V	NP_001271445.1
NM_012481.4	1218	Missense Mutation	ATC,GTC	I459V	NP_036613.2
NM_183228.2	1218	Missense Mutation	ATC,GTC	I403V	NP_899051.1
NM_183229.2	1218	Missense Mutation	ATC,GTC	I420V	NP_899052.1
NM_183230.2	1218	Missense Mutation	ATC,GTC	I420V	NP_899053.1
NM_183231.2	1218	Missense Mutation	ATC,GTC	I364V	NP_899054.1
NM_183232.2	1218	Missense Mutation	ATC,GTC	I381V	NP_899055.1

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