LOC559077

Ensembl ID:
ENSDARG00000079992
Human Orthologue:
SENP6
Human Description:
SUMO1/sentrin specific peptidase 6 [Source:HGNC Symbol;Acc:20944]
Mouse Orthologue:
Senp6
Mouse Description:
SUMO/sentrin specific peptidase 6 Gene [Source:MGI Symbol;Acc:MGI:1922075]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa7836 Essential Splice Site Mutation detected in F1 DNA During 2014
sa23133 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa7836
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
ENSDART00000112257 Essential Splice Site 74 565 3 16
Genomic Location:
Chromosome 17 (position 37026920)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTGTTTTATTTACAGTTTACAGTGGATTGCATTGAGATCAGTTCTGAAGG[T/A]AAGCCARACATTAAGGTTTTWAATAATTCWGATGTTTTATTGATKAATAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23133
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000112257 Nonsense 541 565 16 16
Genomic Location:
Chromosome 17 (position 37017869)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATTCAGGACCCACCTCAAGCTTTTCATCACAACATGGACTTGAAAGGCTG[G/A]TTTTCACAAAGAACAGTAAAAAGGAAGAGGTTGCAAATCAAAGAGCTCAT
Associated Phenotype:
Not determined

GWAS

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

  • Height: Hundreds of variants clustered in genomic loci and biological pathways affect human height. (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/s9g85wtk