ENSDARG00000074102

Ensembl ID:
ENSDARG00000074102
Human Orthologues:
ERCC6, PGBD1, PGBD2, PGBD3, PGBD4
Human Descriptions:
excision repair cross-complementing rodent repair deficiency, complementation group 6 [Source:HGNC S
piggyBac transposable element derived 1 [Source:HGNC Symbol;Acc:19398]
piggyBac transposable element derived 2 [Source:HGNC Symbol;Acc:19399]
piggyBac transposable element derived 3 [Source:HGNC Symbol;Acc:19400]
piggyBac transposable element derived 4 [Source:HGNC Symbol;Acc:19401]
Mouse Orthologue:
Pgbd1
Mouse Description:
piggyBac transposable element derived 1 Gene [Source:MGI Symbol;Acc:MGI:2441675]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa10426 Nonsense Available for shipment Available now
sa10493 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa10426
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
ENSDART00000108759 Nonsense 301 495 6 7
ENSDART00000108759 Nonsense 301 495 6 7
Genomic Location:
Chromosome 4 (position 28752511)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAGGAAAGCGCAAGTCATCTCTGAATGGGCTGAGCWATGRGTCTGTCATG[G/T]SACTCAWAGATGAAAAKTATCTGGGCACTGGTYATAAGCTGTAYGTGGAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10493
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
ENSDART00000108759 Nonsense 301 495 6 7
ENSDART00000108759 Nonsense 301 495 6 7
Genomic Location:
Chromosome 4 (position 28752511)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAGGAAAGCGCAAGTCATCTCTGAATGGGCTGAGCWATGRGTCTGTCATG[G/T]SACTCAWAGATGAAAAKTATCTGGGCACTGGTYATAAGCTGTAYGTGGAC
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/jj1xf9to