Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGAAGGTGGATGCTTTTCTTTTCCA[C/G]CTCTTGAGGGGCACCGTTTGACATC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 606221 | ||||||||||||||||||||
Literature Links: |
IKZF3 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
IKZF3 - IKAROS family zinc finger 3 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001257408.1 | 918 | Missense Mutation | CTG,GTG | L,V 325 | NP_001244337.1 | |
NM_001257409.1 | 918 | Missense Mutation | CTG,GTG | L,V 286 | NP_001244338.1 | |
NM_001257410.1 | 918 | Missense Mutation | CTG,GTG | L,V 272 | NP_001244339.1 | |
NM_001257411.1 | 918 | Missense Mutation | CTG,GTG | L,V 216 | NP_001244340.1 | |
NM_001257412.1 | 918 | Missense Mutation | CTG,GTG | L,V 177 | NP_001244341.1 | |
NM_001257413.1 | 918 | Missense Mutation | CTG,GTG | L,V 138 | NP_001244342.1 | |
NM_001257414.1 | 918 | Missense Mutation | CTG,GTG | L,V 225 | NP_001244343.1 | |
NM_001284514.1 | 918 | Missense Mutation | CTG,GTG | L,V 112 | NP_001271443.1 | |
NM_001284515.1 | 918 | Missense Mutation | CTG,GTG | L,V 112 | NP_001271444.1 | |
NM_001284516.1 | 918 | Missense Mutation | CTG,GTG | L,V 112 | NP_001271445.1 | |
NM_012481.4 | 918 | Missense Mutation | CTG,GTG | L,V 359 | NP_036613.2 | |
NM_183228.2 | 918 | Missense Mutation | CTG,GTG | L,V 303 | NP_899051.1 | |
NM_183229.2 | 918 | Missense Mutation | CTG,GTG | L,V 320 | NP_899052.1 | |
NM_183230.2 | 918 | Missense Mutation | CTG,GTG | L,V 320 | NP_899053.1 | |
NM_183231.2 | 918 | Missense Mutation | CTG,GTG | L,V 264 | NP_899054.1 | |
NM_183232.2 | 918 | Missense Mutation | CTG,GTG | L,V 281 | NP_899055.1 |