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 is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa10061 Nonsense Available for shipment Available now

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:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AAAACACAAAAATCAGTACAGCTTCTYTCRGCGATGGACAGCTGCACGAT[G/T]AAAAMCCTTTGCAAGAAACTGCCAAGAAAGGTRAGCCAGTTCATAGAGAT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/hzths9x1