tp53inp1

Ensembl ID:
ENSDARG00000028017
ZFIN ID:
ZDB-GENE-031018-3
Description:
tumor protein p53-inducible nuclear protein 1 [Source:RefSeq peptide;Acc:NP_001073505]
Human Orthologue:
TP53INP1
Human Description:
tumor protein p53 inducible nuclear protein 1 [Source:HGNC Symbol;Acc:18022]
Mouse Orthologue:
Trp53inp1
Mouse Description:
transformation related protein 53 inducible nuclear protein 1 Gene [Source:MGI Symbol;Acc:MGI:192660

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa22919 Essential Splice Site Available for shipment Available now
sa10505 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa22919
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000038294 Essential Splice Site 42 241 3 4
Genomic Location:
Chromosome 16 (position 43234104)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CAATATATGCCACAACTTTCTATAACATCCTCTCTGTCGTCTGTTCCTGT[A/G]GCAAAGGCCTGCTCTGGTGCGTGTGGAGATGATCTGGAGGTTTGCCATGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10505
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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000038294 Nonsense 220 241 4 4
Genomic Location:
Chromosome 16 (position 43235236)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGCAGCTGTCTCGCAACGCCTTGCGCCGCCTCAAYCTGSTGCGTGATGGS[G/T]GAGCYAGACAGGCTAAAGCCACCGGGGGCTACGTTCACCAGCCGGGACAG
Associated Phenotype:
Not determined

GWAS

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

  • Type 2 diabetes: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. (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/q6qoe47q