tnfa

Ensembl ID:
ENSDARG00000009511
ZFIN ID:
ZDB-GENE-050317-1
Description:
tumor necrosis factor, alpha [Source:RefSeq peptide;Acc:NP_998024]
Human Orthologues:
LTA, TNF
Human Descriptions:
lymphotoxin alpha (TNF superfamily, member 1) [Source:HGNC Symbol;Acc:6709]
tumor necrosis factor [Source:HGNC Symbol;Acc:11892]
Mouse Orthologues:
Lta, Tnf
Mouse Descriptions:
lymphotoxin A Gene [Source:MGI Symbol;Acc:MGI:104797]
tumor necrosis factor Gene [Source:MGI Symbol;Acc:MGI:104798]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa16250 Essential Splice Site Available for shipment Available now
sa3045 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa16250
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000025847 Essential Splice Site 68 234 2 4
Genomic Location:
Chromosome 19 (position 27505511)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AWGKCTCTGTTTCTCTCTCTAGACCCAGGGCAATCAACAAGATGGAAGTG[G/T]WGAGTTTCAAATCTTCTTTGTCAGAGTTAAATCAGGTTATTTTGTTTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa3045
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 2014.
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000025847 Essential Splice Site 69 234 2 4
Genomic Location:
Chromosome 19 (position 27505512)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGKCTCTGTTTCTCTCTCTAGACCCAGGGCAATCAACAAGATGGAAGTGG[T/A]GAGTTTCAAATCTTCTTTGTCAGAGTTAAATCAGGTTATTTTGTTTTTTG
Associated Phenotype:
Not determined

GWAS

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

  • AIDS progression: Genomewide association study of an AIDS-nonprogression cohort emphasizes the role played by HLA genes (ANRS Genomewide Association Study 02). (View Study)
  • Crohn's disease: Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. (View Study)
  • Neonatal lupus: Identification of candidate loci at 6p21 and 21q22 in a genome-wide association study of cardiac manifestations of neonatal lupus. (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/vr1lkjpg