ZMP

LOC561110

Ensembl ID:

ENSDARG00000071304

Human Orthologue:

TBC1D2

Human Description:

TBC1 domain family, member 2 [Source:HGNC Symbol;Acc:18026]

Mouse Orthologue:

Tbc1d2

Mouse Description:

TBC1 domain family, member 2 Gene [Source:MGI Symbol;Acc:MGI:2652885]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa22419	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa22419

Status:

Available for shipment
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Availability:

Order Allele From ZIRC

Mutation:

T > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000105344	Essential Splice Site	492	926	8	14

Genomic Location (Zv9):

Chromosome 14 (position 6320990)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	6007987
GRCz11	14	6314821

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GATGCTTTGGAGAAAAAGTTCTGAACGGGAGAAAAGTCTTATAGTAAAGG[T/A]GAATTATTATTATTACATTCCTGGTACTACCATTTAGTCAAGCTAGTAGA

Long Flanking Sequence:

AATATTATAATTTTGACTTTTAAAATTCTTTAAAAACTGCTGTTATTCCAGCCGAACTAAAAGGGGACAAAAGTTCTGTTGAAGAAATAAAATAAAATAGGAAATACTGGGAAAATGTTCTTGCTTTGTTTAACATAAATATAGAAATATTTGGGGAAAAAAACTAGAAAAAATTAACAGAAGGGTTCATAAATTTGCCTTTAACTCTATAAAAAATATAGTAAAAAAATGATCAAATACTTATCAAATAAATTAAATCAAAAACTTAAATTGATCAATTAAAATTGTGAAAGAAATGTTTTCTCTTCATAGATGCATTATTTATGAGCAGCTAATCTGCATGATCTGATTCTGAAAGCATATTTACAGCTCCTTAACTCTATTCCAGGATGATCTGAAGGCATATAACATCCAGAACCAGTACCTAAACTCTGAGATCTACCAGCTGACGATGCTTTGGAGAAAAAGTTCTGAACGGGAGAAAAGTCTTATAGTAAAGG[T/A]GAATTATTATTATTACATTCCTGGTACTACCATTTAGTCAAGCTAGTAGAGTCTGAAAATAGGTTTTCTATGTGTGTGCCAGTGTGCTGTTTTGGAGGCCAATAACTGTCAGATGGAAAGCAGATACCTGGGAATCCTCCAGAAGCTCCAGGAGAGTCAGGAACTGAACCCTGAACAGAGAGAAGCGGTCAACAAGATGCTTAAAGATGCGGTTCAAGCAGACCTGAACAATGCCATCAAACTAAACCCCATCAGGTAAACACATCTGTCTGTATAAGCACAATTAAAAATTATATATATATATATCAGTTTCCCATATGAATGTCAAAAGGTTTATTTATGTTGACGAAAAACCCTCGCAACTCCCATTATTCCACAGTGATTATGATGAGTATGGATTTAGGATCGCAGTAGACTATAAAGTGGAGGATCTGAAGCTGCTTGCTAAGATCCAGGCCCTAGAGTTCAGGTCCCAAAACCTGCTGAACCAGGAGGAATGT

Associated Phenotype:

Not determined