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AGAGGCTTGGGGCCGGACCACGGGC[A/G]CGAAGGCGCTCTTCTGTTTCACTGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607407 | ||||||||||||||||||||
Literature Links: |
EBF3 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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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 |
EBF3 - early B-cell factor 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001005463.2 | 1191 | Missense Mutation | GCG,GTG | A,V 519 | NP_001005463.1 | |
XM_005252667.3 | 1191 | Missense Mutation | GCG,GTG | A,V 555 | XP_005252724.1 | |
XM_005252668.3 | 1191 | Missense Mutation | GCG,GTG | A,V 564 | XP_005252725.1 | |
XM_005252669.3 | 1191 | Missense Mutation | GCG,GTG | A,V 555 | XP_005252726.1 | |
XM_006717739.3 | 1191 | Missense Mutation | GCG,GTG | A,V 564 | XP_006717802.1 | |
XM_006717740.3 | 1191 | Missense Mutation | GCG,GTG | A,V 563 | XP_006717803.1 | |
XM_006717741.3 | 1191 | Missense Mutation | GCG,GTG | A,V 564 | XP_006717804.1 | |
XM_006717742.3 | 1191 | Missense Mutation | GCG,GTG | A,V 528 | XP_006717805.1 | |
XM_006717743.3 | 1191 | Missense Mutation | GCG,GTG | A,V 528 | XP_006717806.1 | |
XM_006717744.3 | 1191 | Missense Mutation | GCG,GTG | A,V 465 | XP_006717807.1 | |
XM_011539574.2 | 1191 | Missense Mutation | GCG,GTG | A,V 469 | XP_011537876.1 | |
XM_011539575.2 | 1191 | Missense Mutation | GCG,GTG | A,V 392 | XP_011537877.1 | |
XM_017016027.1 | 1191 | Missense Mutation | GCG,GTG | A,V 465 | XP_016871516.1 |
MIR4297 - microRNA 4297 | ||||||
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There are no transcripts associated with this gene. |