ZMP
LOC561110
Ensembl ID:
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 are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa9303 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa22419 | Essential Splice Site | Available for shipment | Available now |
sa35630 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa9303
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000105344 | Essential Splice Site | 327 | 926 | 6 | 14 |
Genomic Location (Zv9):
Chromosome 14 (position 6316913)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 14 | 6003910 |
GRCz11 | 14 | 6310744 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACTTCAGCATGAAAAACTTTCCCTGGCTGAAGAGGTCAAAGCTCAGAAGG[T/C]AAAGTGAGGACATTACACACCACTTCAKCTTYTTCTTCCTGTTGGTTTAY
Long Flanking Sequence:
ATGTCTCACCAATAGACTCAGCAGTGCAAATATCTTATTGCTTGTATTACACGTGATCCGATATGGAATACATTGGCAACAAAGTAATTTTTACAGTTGATTGGTTTGGTTTTGGTTCCACTGCAGTCTATAGAGGATGAGGGAGCTCTCAAATGTAATCTAAAATATCTTAATTTGTGTTCTGAAGATGAATGAGGGTCTCAGGAGATTGAAGGGACATGAAGTTGAGTATTTCATTATATAATTCTTGGTGAAACTAGCCTTTTAATTCTAACAATCACCTTTCTCTGTAGCCTTAGTAGTCCCTGCAACTACTTCATATCAAGCCCCAGAATCTCCTGTTAAAGCTAAATGTGAAGACCCGCACCAGAACAACATTTCCACCATATCGCAAAACAGGAAGAGCGGCAAAGAAAGATCCAGATTTTTGGACCTTAAGGACACATCTCAACTTCAGCATGAAAAACTTTCCCTGGCTGAAGAGGTCAAAGCTCAGAAGG[T/C]AAAGTGAGGACATTACACACCACTTCATCTTCTTCTTCCTGTTGGTTTATTGATTGCTTATGTAAAATTAAAAGAGTAGTTCACTTTCAGAATGAAGGTTTTCTGATTGTTTACTCACATCCCCTGCAATCCAAGATGTTAATTTTTTTCAGTCAAAAAGACATTTCAGGGAAACATTGCAGGATTTTTCACAATATAGGGTAATTCTATGCTGCTCAATGGTTTAAACTTCCAAACTGCAGTTTTACTGAAGCTTAAAAGGGCAAGTACTTTTTTTAAAAAATGAAAATGACCGATCCTTTCACTGAGATCGCCCTTTGTAGTTAAATTAAAACTGCAATTTGGAAATTCAAATGACCGAGCACCATAGACATGCTCTATATGGAGAAAAATACGGTTTCCTTTTCTTTTTGACTGAAAAAAGAAAGAATAAACCTCTTGGATGACACAATTATGTGTACATTTTCAGAAATGTTTCACTAACCCTTTAATGCAACATT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22419
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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
Mutation Details
Allele Name:
sa35630
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000105344 | Nonsense | 831 | 926 | 13 | 14 |
Genomic Location (Zv9):
Chromosome 14 (position 6328375)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 14 | 6015372 |
GRCz11 | 14 | 6322206 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCTCGTTAACACAGGTGATATTCCGATATGCCCTGGCTCTTTTCAAATA[T/A]AGAGAGGAGGCCATCTTAAAGATTCAAGACAGTGTTGAAATGTACCAGTA
Long Flanking Sequence:
AAAATAAGCGTAATCTAGAGGCCTTTGCCTTTCATATAAGCCGCTTCTGATCCCAAATGATCAACTAGAAGTCAAGTTATTACTTGCTGTTCCTTTGTTGTTGACTTTTGTCAGGTAGTGTATATTTCCACTTTAATGTTTCTCTCACACACTTCATCATCATCATCATCATCATCATTTCATCCACCCAGGCTGATCAGCGTGTACTAAAAGACCTCATGTTAGAGAAACTGCCTCGACTCACGGCTCATCTGGAAGCACTGAAAGTAGACATATCCCTCATCACAGTTGAATGGTTTCTGGTGTTGTTTGTTGAGAGTCTGCCCACCCGCATACTGTTTAAAGTATGGGACGCCTTACTGTACGAGGGCAGCAAGGTAACGTTCATCTATAACAAATAAAACAGTACAAAAGCTTTAGGCTAAATACTATGAACTAAACCCTTGCCTTTTCTCGTTAACACAGGTGATATTCCGATATGCCCTGGCTCTTTTCAAATA[T/A]AGAGAGGAGGCCATCTTAAAGATTCAAGACAGTGTTGAAATGTACCAGTATCTTCGCATCTTCCCCAACACCATCGCAGACGGAAGGTGAGACGATCAATTGGAAATAAAACATTGAATGCGTGTTATTCAGACAGAAAGACTTCATTTTTGCAGGAAGTAATGTTCCAAGTACAAAATCTATGCTAGTAGAACATTCTTGTACAAAATAACCAAGAAAACCCATTTATTTTGCAGAAAACGTAGCCTTGGTTCGACAGACGAGGTTTAAAGCACTCAAAAAACGATGCATAGCGCAAGCTTTATGATTGATCGGTTTGGTATCGGTGACGAGTGTAGGCAGTGCTGAGTGCCACGAGCCCAATGTATCGGTGTTTACAAGTATCGAGTCCCGTGAAGGAGCTCCAGGTGAAAGCGTTTGTTTTGTTTACCTTGTGATTAAAGCTGTTGCACTTCTGCCGGTTCCCGCCTCTGAATGAGCGAGTTTTAGCTGCTTGTACA
Associated Phenotype:
Not determined