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 8 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa2628 Essential Splice Site F2 line generated During 2018
sa42013 Nonsense Mutation detected in F1 DNA During 2018
sa35263 Splice Site, Nonsense Available for shipment Available now
sa7358 Missense Mutation detected in F1 DNA During 2018
sa35264 Nonsense Mutation detected in F1 DNA During 2018
sa22079 Nonsense Available for shipment Available now
sa45458 Essential Splice Site Mutation detected in F1 DNA During 2018
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 2018.
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
GRCz11 12 19283440
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 2018.
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
GRCz11 12 19283824
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:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
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
GRCz11 12 19284005
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 2018.
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
GRCz11 12 19284754
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 2018.
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
GRCz11 12 19285062
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:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
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
GRCz11 12 19286567
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:
sa45458
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 2018.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114402 Essential Splice Site 808 1736 8 27
Genomic Location (Zv9):
Chromosome 12 (position 20382908)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 19164752
GRCz11 12 19286626
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGACACAGGGGCCATGCAAGGGGGCTGGGGAAGACCAGCAGGTCCTTCAG[T/C]CCAGAGCCAAAGTTCAGGGTGGAATTCAGGGCCTATACCCCAAATTTCCA
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:
Order Allele From ZIRC
Order Allele From EZRC
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
GRCz11 12 19286792
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/.)

OMIM

OMIM information for TNRC6B

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