LOC568677

Ensembl ID:
ENSDARG00000062165
Human Orthologue:
TUB
Human Description:
tubby homolog (mouse) [Source:HGNC Symbol;Acc:12406]
Mouse Orthologue:
Tub
Mouse Description:
tubby candidate gene Gene [Source:MGI Symbol;Acc:MGI:2651573]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa18104 Nonsense Available for shipment Available now
sa40898 Essential Splice Site Mutation detected in F1 DNA During 2016
sa40899 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa18104
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
ENSDART00000089574 Nonsense 74 503 3 12
Genomic Location:
Chromosome 7 (position 29132017)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GTGCGCAGGACCCGGCAGTCAGAGGAACAGGCTCCCCTYGTGGAGAGCTA[C/A]CTCAGCGGAAACAGCAGCACCATCTACCACGGTAYAAACTACAGTTCAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40898
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 2016.
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000089574 Essential Splice Site 130 503 4 12
Genomic Location:
Chromosome 7 (position 29139713)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACTCCTCAGACTGGCAGCGCCAAGAAGGAGAAAAAGGGCAAGCACAAAGG[T/G]CAGCTGAGCAGCCTGTTGAGTGTCAGGCCCAGCATGTGCACGAAAATCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40899
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 2016.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000089574 Nonsense 380 503 10 12
Genomic Location:
Chromosome 7 (position 29164760)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTTTGTCTTCTGTCCTGCAGGAAACTAATGTTTTAGGATTCAAGGGGCCT[C/T]GAAAGATGAGTGTCATTATTCCCGGAATGAACATGGACCATGAAAGAGTC
Associated Phenotype:
Not determined

GWAS

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

  • Body mass index: Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (View Study)

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

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