ZMP

tbc1d1

Ensembl ID:

ENSDARG00000062081

ZFIN ID:

ZDB-GENE-060710-1

Description:

Tbc1d1 protein [Source:UniProtKB/TrEMBL;Acc:Q29R86]

Human Orthologue:

TBC1D1

Human Description:

TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 [Source:HGNC Symbol;Acc:11578]

Mouse Orthologue:

Tbc1d1

Mouse Description:

TBC1 domain family, member 1 Gene [Source:MGI Symbol;Acc:MGI:1889508]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa32642	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa32642

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 > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000089294	Nonsense	43	1057	2	20
ENSDART00000089328	Nonsense	165	658	3	13
ENSDART00000133194	Nonsense	166	1253	3	23
ENSDART00000147525	Nonsense	166	1213	3	22
ENSDART00000147645	Nonsense	166	1180	3	21

The following transcripts of ENSDARG00000062081 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 1 (position 17468492)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	1	18033660
GRCz11	1	18726597

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TTCCAGAGATCATCAGCACTCTCAGACAGGCTGGCAAAAGCTCTGCCCGG[C/T]AAGAAGACACTCCATCACTGCCTAGCAACGGTCAATCAGATGCCTCCAGC

Long Flanking Sequence:

TACTTTCCAAAGCATAACAGGTTGAATTCTGGATATAATGAATTTAATTACTGGTCGTTATTGGATTTTACTGCATAAAGAGTTTTTAGGCGCCTCTCAAATCTTCCTTTACAGAAAAAAAGTGTCAAATATGCATCACCTGTGCTTCAATCACATGCTAGTCATGGAACATGTGTAACACGTGAACACAAATGAAACGTTTGCTTTTGGCATATTTTCATGTAAAATGACTGAAAAAGTTTCCACTGAAGAATTTTTCCACAAGTGATGCTCAAGTGACATTCATGGTTTTTCTGTCATTGATAGATGCCATTAAATAACTTATTTTTTTGAGTATGTCTGACTGAAATGGCTAACTGAATATTTTCATGATGTACTGTATGTAGGTGTAGTTTGCGTCACTTGCATGACCTCATTCTTTCTCTCTCACTTTTGCATCTGTTCTCCAGGTTCCAGAGATCATCAGCACTCTCAGACAGGCTGGCAAAAGCTCTGCCCGG[C/T]AAGAAGACACTCCATCACTGCCTAGCAACGGTCAATCAGATGCCTCCAGCTCCACGGCAACAGCAGCTGATGCAGCCACAGCCTTCGCTAAAAAGTTTGAGGTGTTGTTCTGCGGGCGAGTGGTGGTGGCCCATAAGAAAGCACCTCCTGCACTAATAGATGAGTGTATAGAGAAGTTTGGACGTGTCAGTGTTACAGGCTCACTTGCAGCGGGCATCAGGCGGGCGTTTTCACTCAATCAGGTTACAGTATTTATGTATTTATTTATTGCAGTATTTATTTAATGTATGAACACAGTACTAGATTGTGAACATCTTACATTTGGCATGTTAACATCTTACATTTAACAACATTTATTTTATTATTCATTCATTCATTCATTTTCTTTTCGGCTTTAGTCCCTTTATTAATCTGGGGTTGCGACAGTGCATTGAACTGCCAACTTATCTAGCATATGTTTTACACAGTGGATGCCCTTCCAGCTGCAACCCATCTCTGGG

Associated Phenotype:

Not determined