ZMP
TTC28 (1 of 2)
Ensembl ID:
Description:
tetratricopeptide repeat domain 28 [Source:HGNC Symbol;Acc:29179]
Human Orthologue:
TTC28
Human Description:
tetratricopeptide repeat domain 28 [Source:HGNC Symbol;Acc:29179]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa17154 | Essential Splice Site | Available for shipment | Available now |
sa13074 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa17154
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000129007 | Essential Splice Site | 59 | 1132 | 3 | 12 |
Genomic Location (Zv9):
Chromosome 10 (position 4034036)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 4026030 |
GRCz11 | 10 | 4026334 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTACTTTTAAATATGTGTTTTGCATGAAAAATGACTRTGTTTTTCTTTGT[A/G]GGGTCTAATGCATTCCAGTGGTCCGGTGGGTCGACACAGGCAGCTGGTTC
Long Flanking Sequence:
TATTTGTTTAATTATTAAATATAGTTTTGAATATGTGCTTTGCACTAAAAGTTACTGTTTTATTTGTATAATATTGTATTCTATTTTAATCTATTTTAAGTTAAATAATCCAAATAAATGTCACTGATATTGTTTAATTATTTAATATAGTTTTGAATATGTGCTTTGCACTAAATACTACTATTTTATTTTTATTGTATTGTATTCTATTTTAATTATATTTTTTATTATAAATAATTTTATTTAAAAATAATAATAAATATTTATGTAATTATATAGTATTTTATTTTGTTTTATTTTATTTATCTAAATGGATTTTACTCATAGTGTTTAATTATTTAATATAGTTTTAAATATTTATGTAATTATATAGTATTTTATTTTGTATGTTTTGTTATTTTTATTTTATTAATCTAAATGGATTTGACAGATATTGTTGAAATATTTAATGTACTTTTAAATATGTGTTTTGCATGAAAAATGACTATGTTTTTCTTTGT[A/G]GGGTCTAATGCATTCCAGTGGTCCGGTGGGTCGACACAGGCAGCTGGTTCTGGTTCTGGAGGGCGAGTTGTATCTAATCCCATTTGCTCTGCTGAAGGGAAGCTCATCTAATGAGTATCTGTATGAGCGCTTCAGTCTCATCGCCGTACCGTCTATCGGCAGTCTGGGGACCACAGCTAAAGTAAGCACTGTCATATAGGACAGGAGGTATTTTAGTAGCATTTACATAACTGATTTATAGTCTTTCAACTAATAGACTTTTTTATTTTATTTTATTTTATACCAAAATAGAAAATGGCTCATGGCTATTTAATATAGATTTATATTAAGAAATATGCAATACAGTTGTTTTTGAATACATTTTGTATTTTTTTTTTCATTTATTTATTTTTTTAACTTAGATTTTAGTTTAGTTTAAATTAGATTTTTATATTAACTAAAAATGTATTCATTTAGATTTTATATATATATATATATATATATATATATATATATATATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13074
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000129007 | Nonsense | 725 | 1132 | 12 | 12 |
Genomic Location (Zv9):
Chromosome 10 (position 4046264)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 4038258 |
GRCz11 | 10 | 4038562 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGCCGCTCATCTCCACATGGAGCCKTTGGAGGACATGAGGATGAAGAGTA[C/A]RAAGGATACAGTATAATCAGTAGCGAGCCAYTAGGTAGCCAATGTGACAC
Long Flanking Sequence:
TTCACCCTTACACTGTTTATGTTTGACAGTAATTTAATCATACCGTGGCTCAGTGGTTAGTACTGCGGCCTCACAGCAAGAAAGTCACTGGTTCGATTCAAATGTCTGACTTATTGTCTGATGTTTCCCTCAGACTCTACTGAGCTTCCGAAGCGTCTAAGCCTGGATAGTTCATCGTCTCTGGAGTCTCTGGCCTCTGCACAGTCTGTGTGCCACCAGCTGCCAATGGGCTACCCCAACCCGCCCTTTTCCCCTCCATGCCCTGACAGCCTGGCTTCGGATGCCATCTCGGTGTACAGCCTGAGCTCCATTGCCTCCTCCATGAGCTTCCTATCCCGTCCTGAGGGTGCGTCCGAGTTTATCAGCCAACGCTCAAGGCAGCAGGAACTGGAGCGGCATCGAGGGGGAGCTGGGCTGTTCGCATCCCATCGGCACACGGTAGTTCCTCGCAGCCGCTCATCTCCACATGGAGCCGTTGGAGGACATGAGGATGAAGAGTA[C/A]GAAGGATACAGTATAATCAGTAGCGAGCCACTAGGTAGCCAATGTGACACACTCCCTCGTCCCGCAAACCACAGGAATCATCGAGGTGCTGCGCGTGGTGGGGCCGGTAGGGGTTATGCTGTGTCCGTGTCCTCCAGGGGAAGTGTAAGCACCCCAACGTCTCCTGTCAAAGCCACCTTGGTTCCCAGTCCCAACTCGCCCTTCCAGAAGGTTGGGAAGGTGAGCAGCTCTGACACAGGGGAGTCTGATCAGTCCAGCACAGAGACGGACAGCACTGTGAAATCCCAAGAGGAACGCACGCCCGGAGCTCCTTTGGACCCACAAGAACTGGCGCAAAAGATTCTGGAAGAAACGCAAAGCCACATGCGAGCTGTTGAGACGTTGCAGAGAAGTGTGCCTCTGGGTGACGGGATGAGTGGTGGAGGTCCCCCGACCCCAACAGGAGGGTCTGCTTTCCGATCTTCAGAGACAAGTGCATTCAGTCGTCCCAGTAGCAGGGC
Associated Phenotype:
Not determined