TGFBR2 (2 of 2)

Ensembl ID:
ENSDARG00000059363
Description:
transforming growth factor, beta receptor II (70/80kDa) [Source:HGNC Symbol;Acc:11773]
Human Orthologue:
TGFBR2
Human Description:
transforming growth factor, beta receptor II (70/80kDa) [Source:HGNC Symbol;Acc:11773]
Mouse Orthologue:
Tgfbr2
Mouse Description:
transforming growth factor, beta receptor II Gene [Source:MGI Symbol;Acc:MGI:98729]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa23405 Nonsense Available for shipment Available now
sa43192 Nonsense Mutation detected in F1 DNA During 2016
sa43193 Nonsense Mutation detected in F1 DNA During 2016
sa12495 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa23405
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
ENSDART00000082466 Nonsense 32 659 2 10
Genomic Location (Zv9):
Chromosome 19 (position 953757)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 1280309
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTCTCTGGTGTTTCTGCAGCTCTTCTCCGCACTGCTGATCTCCGCATCTG[C/A]AGCTCCTGTAAGCCTCATCCAGTCAACTGTGTGTCAAATCAGTGCTTCTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43192
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
ENSDART00000082466 Nonsense 104 659 3 10
Genomic Location (Zv9):
Chromosome 19 (position 955717)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 1282269
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CGATGCTCGGTGTGATGGTGGAGGATATTCTCATCTCGGAGTGTGTGTTG[C/T]AGGAACAAAACATTCACGGAAGACACCTGCGTGTGTGTAGCTGCACAGGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43193
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
ENSDART00000082466 Nonsense 106 659 3 10
Genomic Location (Zv9):
Chromosome 19 (position 955723)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 1282275
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCGGTGTGATGGTGGAGGATATTCTCATCTCGGAGTGTGTGTTGCAGGAA[C/T]AAAACATTCACGGAAGACACCTGCGTGTGTGTAGCTGCACAGGAGACCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa12495
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000082466 Nonsense 352 659 6 10
Genomic Location (Zv9):
Chromosome 19 (position 961047)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 1287599
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACAACACTGAGCTGCTGCCCATCCAGCTGGACAGAGTTGTGGGAAAAGGA[C/T]GAWTCGCAGACGTTTATAAAGCCAAGCTGAAGCAGAGCGCAGACTCCTTC
Associated Phenotype:
Not determined

GWAS

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

  • Migraine: Genome-wide association analysis identifies susceptibility loci for migraine without aura. (View Study)
  • Tonometry: Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. (View Study)

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

Register

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