ZMP

TTC28 (1 of 2)

Ensembl ID:

ENSDARG00000087109

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
sa27540	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa13074	Nonsense	Available for shipment	Available now
sa41578	Nonsense	Mutation detected in F1 DNA	Not yet available

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.

Availability:

Order Allele From ZIRC
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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:

sa27540

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000129007	Essential Splice Site	515	1132	8	12

Genomic Location (Zv9):

Chromosome 10 (position 4045062)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	10	4037056
GRCz11	10	4037360

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TGTGTAAACTGATCACGGCTTCAGAAACCGGAGAACAGCTGATCAACCGG[G/A]TGAGATGTCACACACCATGAATCCAAAACACTTTAATATTCATTAAGCAA

Long Flanking Sequence:

CATTTAAAAATAGCAATATCTCTACATCAGAACATCGTAGGGACCTGGGCATTGGCTTGTTTGACTCATGCTAGCAAATGGGACTTCCTGTGTATTCTAATAACGTATGTTCTAATAAAGATTAGCTACATGCTATGAATGATTATCTAAATGCAATAACATATGCTAGAAATGCCTACTAAGTATTAGCATTTGATCAAACATGTACACGAGCATTGCCATTTAGCAACTGCTTAGCAACCACCTAACAATGCCATAAACGTTTGACTTTCTCAAGCCAACATCAAAGTTTATCAATGAACTTTAGGTTCTAGTTTAGTTTTAAAATGTGTATTGTTCCTTTTAAAATAAATATCAAATAACATGACATAAAACACACACACACACAATTAACTCTGAGATATTTGTCCTCCATGTTGGCAGGTCTGCCCCCTCCTGCTCTGCAGGCATTGTGTAAACTGATCACGGCTTCAGAAACCGGAGAACAGCTGATCAACCGG[G/A]TGAGATGTCACACACCATGAATCCAAAACACTTTAATATTCATTAAGCAACACTGCTCATGCGTCTGATCTGTATGTAACAACACTGCTAACGCTAGCAACTCTCTTTCCTTCTCTTTTTCCTAAACCTACCACTAAAGGCTGTTAAAAATGTTGTGGGAATGGTAAGAGCTTACAGATCTGCTTTCAACTAACTCTACACTAACACAATACTGTCAATGAACTCACTAATAATTTTAGCTGTGATATTTCATAGCATGAGAGCTACTTTTTATATCATTGATTTGATTGATTCCCAGTTTATTACTTTGACCTTGCTTGTCTAATAAAAGCCTGTTATATATTAAACGTCATTGATTTGATTTCCTGCAGCTCCATCAGGTTTTGGTGCAGTTGCAGTCTGGAGAGAAGGAGCATGATTTCTCTCTCGCACCTATCCAAGTGTCCATCAGCGTGCAGCTCTGGAGACTTCCTGGCTGTCACGAGTTCCTGGCTGCATTG

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.

Availability:

Order Allele From ZIRC
Order Allele From EZRC

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

Mutation Details

Allele Name:

sa41578

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000129007	Nonsense	851	1132	12	12

Genomic Location (Zv9):

Chromosome 10 (position 4046640)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	10	4038634
GRCz11	10	4038938

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AACTGGCGCAAAAGATTCTGGAAGAAACGCAAAGCCACATGCGAGCTGTT[G/T]AGACGTTGCAGAGAAGTGTGCCTCTGGGTGACGGGATGAGTGGTGGAGGT

Long Flanking Sequence:

GGCAGCAGGAACTGGAGCGGCATCGAGGGGGAGCTGGGCTGTTCGCATCCCATCGGCACACGGTAGTTCCTCGCAGCCGCTCATCTCCACATGGAGCCGTTGGAGGACATGAGGATGAAGAGTACGAAGGATACAGTATAATCAGTAGCGAGCCACTAGGTAGCCAATGTGACACACTCCCTCGTCCCGCAAACCACAGGAATCATCGAGGTGCTGCGCGTGGTGGGGCCGGTAGGGGTTATGCTGTGTCCGTGTCCTCCAGGGGAAGTGTAAGCACCCCAACGTCTCCTGTCAAAGCCACCTTGGTTCCCAGTCCCAACTCGCCCTTCCAGAAGGTTGGGAAGGTGAGCAGCTCTGACACAGGGGAGTCTGATCAGTCCAGCACAGAGACGGACAGCACTGTGAAATCCCAAGAGGAACGCACGCCCGGAGCTCCTTTGGACCCACAAGAACTGGCGCAAAAGATTCTGGAAGAAACGCAAAGCCACATGCGAGCTGTT[G/T]AGACGTTGCAGAGAAGTGTGCCTCTGGGTGACGGGATGAGTGGTGGAGGTCCCCCGACCCCAACAGGAGGGTCTGCTTTCCGATCTTCAGAGACAAGTGCATTCAGTCGTCCCAGTAGCAGGGCAAGCATCAAGGCACAGTCGTCGCCCCTTCCAGCACGCCCCAAACCACCATCCCGGACGTCCTCCCTCCAGAAGGTCAGCTCGGGATACAACAGTCCTGCCACATCCGAAACATCTCTTAAAGAAGGCAGCCAACCTTCACCTACTTCTGACAGTCATGCCCAGTTTAAACTCAAGTATCCCAGCTCGCCCTACAGCGGCCACATCTCCCGGTCACCTAGCAACATCTCACCTAGCTCAGGTCACCAGTCGCCAGCTGGAAGCGCTCCTTCTCCAGCTCTGTCCTACTCCTCCACTGGCTCAACACGCTCTAGTCCAGCAGACGCTCCAGATATTGACCGAATCAAACTGGCGGCAATTGACGAGAAAGTCCAAGCG

Associated Phenotype:

Not determined