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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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NP_001183994.1
- Ensembl ID:
- ENSDARG00000043237
- Description:
- E4 binding protein 4-2 [Source:RefSeq peptide;Acc:NP_001183994]
- Human Orthologue:
- NFIL3
- Human Description:
- nuclear factor, interleukin 3 regulated [Source:HGNC Symbol;Acc:7787]
- Mouse Orthologue:
- Nfil3
- Mouse Description:
- nuclear factor, interleukin 3, regulated Gene [Source:MGI Symbol;Acc:MGI:109495]
Alleles
There is 1 allele of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa33110 | Nonsense | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa33110
- Current Status:
-
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- We currently estimate that this allele will be available during 2018.
- Mutation:
- C > T
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000063478 | Nonsense | 298 | 541 | 1 | 1 |
- Genomic Location (Zv9):
- Chromosome 3 (position 13875965)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 3 13934252 GRCz11 3 14084098 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- CTAGCATTGCCTCATATCCGGTGGAAAGTCAGGACATTATTCCACAAGAA[C/T]AGCAGAACTTCACTCAGGCTACAGAGGAACAGAGCAGAAGCCTGGTTTCC
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Ulcerative colitis: Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
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