LOC558772

Ensembl ID:
ENSDARG00000076533
Human Orthologue:
NFE2L1
Human Description:
nuclear factor (erythroid-derived 2)-like 1 [Source:HGNC Symbol;Acc:7781]
Mouse Orthologue:
Nfe2l1
Mouse Description:
nuclear factor, erythroid derived 2,-like 1 Gene [Source:MGI Symbol;Acc:MGI:99421]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa11267 Nonsense Available for shipment Available now
sa10608 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa11267
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110934 Nonsense 330 815 5 6
Genomic Location:
Chromosome 12 (position 30408563)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTCCCACCTCACAGCTGAGAGCTACAACTGAAGAAACGCCTTCAACGTCA[C/T]AAGGGATTCCTCTACAACCCACACTGTCGCAGACCGATACRCCACTAGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10608
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000110934 Nonsense 519 815 6 6
Genomic Location:
Chromosome 12 (position 30410745)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTTCAGCCAAGCCCAGGCTTCTCAGCTCGAGGATGAGCTTGATTCAGACT[C/A]AGGTCTTTCTTTGGATTCCAGCCATAGTCCAGCATCTCCCAGCAACTCGG
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Epilepsy (generalized): Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/6lqymxkl