trpc6

Ensembl ID:
ENSDARG00000056625
ZFIN IDs:
ZDB-GENE-040724-114, ZDB-GENE-040724-114
Description:
short transient receptor potential channel 6 [Source:RefSeq peptide;Acc:NP_001025453]
Human Orthologue:
TRPC6
Human Description:
transient receptor potential cation channel, subfamily C, member 6 [Source:HGNC Symbol;Acc:12338]
Mouse Orthologue:
Trpc6
Mouse Description:
transient receptor potential cation channel, subfamily C, member 6 Gene [Source:MGI Symbol;Acc:MGI:1

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa23930 Nonsense Mutation detected in F1 DNA During 2014
sa15581 Essential Splice Site Available for shipment Available now
sa10188 Essential Splice Site Available for shipment Available now
sa23929 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa23930
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:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079151 Nonsense 213 855 2 11
ENSDART00000112175 Nonsense 213 874 2 12
Genomic Location:
Chromosome 21 (position 21925673)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CGCGCTTTTCTCATGACGTCACTCCAGTCATTCTAGCCTCTCACTGTCAC[G/T]AGTACGAGATCGTGCACATACTTTTGGGAAAGGGTGCGCGCATTGAGCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15581
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079151 Essential Splice Site 561 855 7 11
ENSDART00000112175 Essential Splice Site 561 874 7 12
Genomic Location:
Chromosome 21 (position 21923051)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CACACTCCAAATCAACAACAAAGCAAAATATTTTTTTTNATTTTTGTTCC[A/C]GCTCGGATTGACTGGCTTCCATCAGATCCTCAGTTAGTCTCAGAGGGCTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10188
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:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079151 Essential Splice Site 781 855 9 11
ENSDART00000112175 Essential Splice Site 781 874 9 12
Genomic Location:
Chromosome 21 (position 21918881)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGCTTTCTGTCAGGCAAAAAGCCATTATGAAGGGGTCTGAACTCAGTGAG[G/A]TGAGGCAAATCCAYTCTTTTRCATTAAGTTRTAGTGACATTARCMATATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23929
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:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000079151 Nonsense 799 855 10 11
ENSDART00000112175 Nonsense 818 874 11 12
Genomic Location:
Chromosome 21 (position 21916654)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAATTATGAAGCGTCTTGTGAAGCGATACATCATCAAGGCTCAAAATGAC[A/T]AGGAATGTGATGAAGTCAACGAGGGTGAGTGTCTGAATTTGAGGAATAAT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/jv3x97ac