LOC559362

Ensembl ID:
ENSDARG00000086840
Human Orthologues:
RP1-130H16.18, TBC1D10A, TBC1D10B, TBC1D10C
Human Descriptions:
TBC1 domain family, member 10A [Source:HGNC Symbol;Acc:23609]
TBC1 domain family, member 10B [Source:HGNC Symbol;Acc:24510]
TBC1 domain family, member 10C [Source:HGNC Symbol;Acc:24702]
Mouse Orthologues:
Tbc1d10a, Tbc1d10b, Tbc1d10c
Mouse Descriptions:
TBC1 domain family, member 10a Gene [Source:MGI Symbol;Acc:MGI:2144164]
TBC1 domain family, member 10b Gene [Source:MGI Symbol;Acc:MGI:1915699]
TBC1 domain family, member 10c Gene [Source:MGI Symbol;Acc:MGI:1922072]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa32523 Nonsense Mutation detected in F1 DNA During 2016
sa10061 Nonsense Available for shipment Available now
sa32522 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa32523
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
ENSDART00000125836 Nonsense 413 617 11 15
Genomic Location:
Chromosome 25 (position 16850919)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAGCGAATAAAGAAAACACAAAAATCAGTACAGCTTCTTTCAGCGATGGA[C/T]AGCTGCACGATGAAAAACCTTTGCAAGAAACTGCCAAGAAAGGTGAGCCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10061
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000125836 Nonsense 417 617 11 15
Genomic Location:
Chromosome 25 (position 16850907)
KASP Assay ID:
2261-9509.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAAACACAAAAATCAGTACAGCTTCTYTCRGCGATGGACAGCTGCACGAT[G/T]AAAAMCCTTTGCAAGAAACTGCCAAGAAAGGTRAGCCAGTTCATAGAGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32522
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
ENSDART00000125836 Nonsense 546 617 14 15
Genomic Location:
Chromosome 25 (position 16838304)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCGTGAGGTCAGGGCCTGTCGGTAAAGTGGCCCGAAGAAGGAGCCGAGAT[C/T]AATCCAGAAGAGGAAGTTCCTTCCATTCGAGGAGTCGGCGCTCTAGATCT
Associated Phenotype:
Not determined

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