TNRC6B (1 of 3)

Ensembl ID:
ENSDARG00000074161
Description:
trinucleotide repeat containing 6B [Source:HGNC Symbol;Acc:29190]
Human Orthologue:
TNRC6B
Human Description:
trinucleotide repeat containing 6B [Source:HGNC Symbol;Acc:29190]
Mouse Orthologue:
Tnrc6b
Mouse Description:
trinucleotide repeat containing 6b Gene [Source:MGI Symbol;Acc:MGI:2443730]

Alleles

There are 7 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa2628 Essential Splice Site F2 line generated During 2016
sa42013 Nonsense Mutation detected in F1 DNA During 2016
sa35263 Splice Site, Nonsense Mutation detected in F1 DNA During 2016
sa7358 Missense Mutation detected in F1 DNA During 2016
sa35264 Nonsense Mutation detected in F1 DNA During 2016
sa22079 Nonsense Mutation detected in F1 DNA During 2016
sa11065 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa2628
Current Status:
F2 line generated
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:
A > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114402 Essential Splice Site 31 1736 2 27
Genomic Location (Zv9):
Chromosome 12 (position 20379722)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 19161566
KASP Assay ID:
554-2537.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AATTAAAATATATGTTTTCATCAAATTTGTATCTCCTTTTTTATTGTTTT[A/C]GGTTGCAGAGCAAAAAAATAAAGGTAACTATTTTATTTCCATCTTTAATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42013
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
ENSDART00000114402 Nonsense 78 1736 4 27
Genomic Location (Zv9):
Chromosome 12 (position 20380106)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 19161950
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CCCTCCCTCAGGGTGGGAACAATGCTAAGCGGCCGGCGGTGGCCAACGGA[C/T]AGCCCTCCCCCAGCACACCGAATTCTCAGCGCTACATGCCCCGTGAAGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35263
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 > A
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114402 Splice Site, Nonsense 138 1736 4 27
Genomic Location (Zv9):
Chromosome 12 (position 20380287)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 19162131
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGGAGGCAACAGCGGGGGAGACAGCCCCAATGAAACAGTGGCTTCTGCCT[C/A]AGGTAGGAATCATTAGGTTAATAATTTAAATTGCATAGTTACATTTTTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa7358
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:
Missense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114402 Missense 306 1736 6 27
Genomic Location (Zv9):
Chromosome 12 (position 20381036)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 19162880
KASP Assay ID:
554-4316.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GATTCCAGGTGCCAATTTTACCCCTAATGCCAATCCCTCTGCTTGGCCAG[C/T]CCKAGTACAGGAAGGGGCTGGGACAGTTGCAACAGAGGGTGGCTCCTCTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35264
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
ENSDART00000114402 Nonsense 409 1736 6 27
Genomic Location (Zv9):
Chromosome 12 (position 20381344)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 19163188
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CAGGCTCTGCTTCGTCTTCCTCCTCCACCAGCTCATCATTGTGGAGAACT[C/T]AGCCTTTCCCTGCAAACTTCAAAACGGGTGCCTCAAGGACTGAATCTTGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22079
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 > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114402 Nonsense 789 1736 8 27
Genomic Location (Zv9):
Chromosome 12 (position 20382849)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 19164693
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAAGGCCCGGCACAGCAGCAGCAGCAACCACAATCACAGCCTCAGCAGTG[T/A]CAGTCAGTGGACACAGGGGCCATGCAAGGGGGCTGGGGAAGACCAGCAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11065
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
ENSDART00000114402 Nonsense 838 1736 9 27
Genomic Location (Zv9):
Chromosome 12 (position 20383074)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 19164918
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAAATGGAAATTGATGATGGAACATCTGCTTGGGGTGACCCCAGCAACTA[C/A]AACTACAAAAGTGTCAACTTGTGGGATAAAAACAATGCCCCATCTGGCCA
Associated Phenotype:
Not determined

GWAS

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

  • Height: A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation. (View Study)
  • Prostate cancer: A meta-analysis of genome-wide association studies to identify prostate cancer susceptibility loci associated with aggressive and non-aggressive disease. (View Study)
  • Prostate cancer: Sequence variants at 22q13 are associated with prostate cancer risk. (View Study)
  • Prostate cancer (gene x gene interaction): A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (View Study)
  • Uterine fibroids: A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids. (View Study)

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

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