ZMP
ttc39c
Ensembl ID:
ZFIN ID:
Description:
Tetratricopeptide repeat protein 39C [Source:UniProtKB/Swiss-Prot;Acc:Q1LXE6]
Human Orthologue:
TTC39C
Human Description:
tetratricopeptide repeat domain 39C [Source:HGNC Symbol;Acc:26595]
Mouse Orthologue:
Ttc39c
Mouse Description:
tetratricopeptide repeat domain 39C Gene [Source:MGI Symbol;Acc:MGI:1919997]
Alleles
There are 8 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa24128 | Essential Splice Site | Available for shipment | Available now |
| sa9410 | Essential Splice Site | Available for shipment | Available now |
| sa19285 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa32396 | Nonsense | Available for shipment | Available now |
| sa16055 | Nonsense | Available for shipment | Available now |
| sa12531 | Nonsense | Available for shipment | Available now |
| sa24127 | Essential Splice Site | Available for shipment | Available now |
| sa32395 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa24128
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000105675 | Essential Splice Site | None | 579 | 1 | 15 |
| ENSDART00000129310 | Essential Splice Site | None | 275 | 1 | 7 |
| ENSDART00000136846 | Essential Splice Site | None | 275 | 1 | 7 |
Genomic Location (Zv9):
Chromosome 22 (position 16599597)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 16351352 |
| GRCz11 | 22 | 16377622 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAAATCATACAAATGCGAGTCATTCCAGCGGTCTGCCGTGCGTTTTATTG[G/A]TAAGCGAAATATCATTTCAGTCGGTAATTTGTTTATTCGGCGCGCGGAAT
Long Flanking Sequence:
CTTATCTGTTACTATTTATTTCATGTTGCATTTGTATGTTCATTTTTATACAAACTGTTATACAATTAACAACAAACACTACAAGAAATTCTGTGAAAAAAAACAATGAACGAATCTTCTTAGTGAAGCGACACAAAAGCTTCAGATCATTCAGGGAGTAAACGGGTTAAAGTCTCAGTGGTTTCCTGGTTGGAGCCAAAGGGCGTGTTTCTGTCAGGAGGAAGCTGTCAAGCGTTTGCTTTCCAATCCAAGCCGAATCGCCTGCTGTCTCCTACAGCACCTCGGCGGAGTGAATCAGTCGCGGGACTGTCGGTCACGTCACTGACGGTTGCTCGTTTAAAATATTGCGTAACGAGCGAACAGCCGGTGGATGCTCCTCTGCTCGCTGATGGAGGGGCACGACTACGCATCTAAAAACATCTTAGCACTGCATTAGGACACGGAAGAACTCAAATCATACAAATGCGAGTCATTCCAGCGGTCTGCCGTGCGTTTTATTG[G/A]TAAGCGAAATATCATTTCAGTCGGTAATTTGTTTATTCGGCGCGCGGAATACCAAACAACCGGACTGTTGTTTTTTCCTCATTTTCCTCCTCGTTTTATTTGCAGAAGAGCGGGTTTCTAGGTTTGTGGAGGAGAAAAGGAGAAAGGATGGCGGGCCCAGATTCCCCGCAGCAGCAGCAGGTTGAGGAGAAAGCCGAGCAGATTGACGACGCCGAGCTCGCCTTTCAGGGCATCAATATGCTGCTCAATAATGGCTTTAGAGAAAGCGACGAGCTCTTCAGGAGATACAGGTCACATTCATATTCAATATTCACTTTATGCTCATGACTGGTGATATTATTGGGCTGTGTTTGGTTTTTGCTTGAAGTGGGAGTTGAATTAATTTGGCCTTGTTACTGCCTTCGTTTACCAAAATGGACTTTGATACAAATAATAATAATGAAAACAAATAAATTCTGTTTGGTTTTTATTATATCTATATTAAAGGGATGTTATTGGAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9410
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000105675 | Essential Splice Site | 48 | 579 | 3 | 15 |
| ENSDART00000129310 | Essential Splice Site | 48 | 275 | 3 | 7 |
| ENSDART00000136846 | Essential Splice Site | 48 | 275 | 3 | 7 |
| ENSDART00000105675 | Essential Splice Site | 48 | 579 | 3 | 15 |
| ENSDART00000129310 | Essential Splice Site | 48 | 275 | 3 | 7 |
| ENSDART00000136846 | Essential Splice Site | 48 | 275 | 3 | 7 |
Genomic Location (Zv9):
Chromosome 22 (position 16593757)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 16345516 |
| GRCz11 | 22 | 16371786 |
KASP Assay ID:
2261-6649.1 (used for ordering genotyping assays)
KASP Sequence:
ACTTATTTCATGAAGACTTGCCTTATCCCATGCTTYTCTATTCTGTCTTC[A/C]GGACCCATAGTCCACTGATGAGCKTCGGTGCCAGTTTTGTCAGCTTCTTG
Long Flanking Sequence:
TGTAACTTATTTATCTAAGTTGATCATGTTCTAACTAGTTTAATAGGTTGTGCAAGCTCTTTTAAGTCAGTTTAACAATATAAGTTCTGTGGACTCAAAAGGTTAATTTGATCCAGCTTAAAAATTTAAGGCAACCTGGACTTTTTTTTTTTTTTTAAGTGTAGTGGTTACTGTTTTAAGTTATCTAGAGCCGTATGACATCACAAATTGTGAATACCACAATATTATTAATTATTACATTTATAACAATATCAACAGCAGCGCTCACACAAAATAAGCAGCTGATTTGGTGGTTGCTTAGTAATATAAAAAGCACAGCACACTTTTCTTCATGTCAATAAAAAAGGCAGTGCGGTGCGCCTCCTATTCTCAGAACTAAAAAGCGCATTCGGTATGATCGGCCCCTAAATCACCAGATTTTTTTTTTTTTAATCTGAATTAATCTTAAAAACTTATTTCATGAAGACTTGCCTTATCCCATGCTTCTCTATTCTGTCTTC[A/C]GGACCCATAGTCCACTGATGAGCTTCGGTGCCAGTTTTGTCAGCTTCTTGGTAAGTGAACTCAATTCAATGATATTTTGAGAGCATTTGCAGTATTTGCTACAGCTTAAAAGTGAAAGTGAAAGTTGCCTATACTATCAAATAATGCAAATACTAAAAAATAAAGTACAATTGTATGTATTTTATGCTGTAATGCAGTGTTTAGCAGAGAGCATGCTGGGAAAATGGACGAACATAGCTGTGCCGTCCAAGGACATTTTCTTATGTAATTAGTCTGACATCGGCCTGTCGTTCCTCGTCCATCTCTGTTATATGACAGAGTCAGCGAATGCTCTGAACCACCGCTCTGCTCCGGTTTCATCCACACATTAACAGGAAGTGAAGTATTGGAAAGAAAATGAGACAAAATTTGAATTCTACAATTAATTAAACAAGTTTTATCATTTTATTTTATTTAATAGGCAGAGCAGTCTAACGCTATTTGTGCAAATAGTTTTTAAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19285
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:
A > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000105675 | Essential Splice Site | 48 | 579 | 3 | 15 |
| ENSDART00000129310 | Essential Splice Site | 48 | 275 | 3 | 7 |
| ENSDART00000136846 | Essential Splice Site | 48 | 275 | 3 | 7 |
| ENSDART00000105675 | Essential Splice Site | 48 | 579 | 3 | 15 |
| ENSDART00000129310 | Essential Splice Site | 48 | 275 | 3 | 7 |
| ENSDART00000136846 | Essential Splice Site | 48 | 275 | 3 | 7 |
Genomic Location (Zv9):
Chromosome 22 (position 16593757)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 16345516 |
| GRCz11 | 22 | 16371786 |
KASP Assay ID:
2261-6649.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTTATTTCATGAAGACTTGCCTTATCCCATGCTTCTCTATTCTGTCTTC[A/C]GGACCCATAGTCCACTGATGAGCTTCGGTGCCAGTTTTGTCAGCTTCTTG
Long Flanking Sequence:
TGTAACTTATTTATCTAAGTTGATCATGTTCTAACTAGTTTAATAGGTTGTGCAAGCTCTTTTAAGTCAGTTTAACAATATAAGTTCTGTGGACTCAAAAGGTTAATTTGATCCAGCTTAAAAATTTAAGGCAACCTGGACTTTTTTTTTTTTTTTAAGTGTAGTGGTTACTGTTTTAAGTTATCTAGAGCCGTATGACATCACAAATTGTGAATACCACAATATTATTAATTATTACATTTATAACAATATCAACAGCAGCGCTCACACAAAATAAGCAGCTGATTTGGTGGTTGCTTAGTAATATAAAAAGCACAGCACACTTTTCTTCATGTCAATAAAAAAGGCAGTGCGGTGCGCCTCCTATTCTCAGAACTAAAAAGCGCATTCGGTATGATCGGCCCCTAAATCACCAGATTTTTTTTTTTTTAATCTGAATTAATCTTAAAAACTTATTTCATGAAGACTTGCCTTATCCCATGCTTCTCTATTCTGTCTTC[A/C]GGACCCATAGTCCACTGATGAGCTTCGGTGCCAGTTTTGTCAGCTTCTTGGTAAGTGAACTCAATTCAATGATATTTTGAGAGCATTTGCAGTATTTGCTACAGCTTAAAAGTGAAAGTGAAAGTTGCCTATACTATCAAATAATGCAAATACTAAAAAATAAAGTACAATTGTATGTATTTTATGCTGTAATGCAGTGTTTAGCAGAGAGCATGCTGGGAAAATGGACGAACATAGCTGTGCCGTCCAAGGACATTTTCTTATGTAATTAGTCTGACATCGGCCTGTCGTTCCTCGTCCATCTCTGTTATATGACAGAGTCAGCGAATGCTCTGAACCACCGCTCTGCTCCGGTTTCATCCACACATTAACAGGAAGTGAAGTATTGGAAAGAAAATGAGACAAAATTTGAATTCTACAATTAATTAAACAAGTTTTATCATTTTATTTTATTTAATAGGCAGAGCAGTCTAACGCTATTTGTGCAAATAGTTTTTAAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32396
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 |
|---|---|---|---|---|---|
| ENSDART00000105675 | Nonsense | 214 | 579 | 6 | 15 |
| ENSDART00000129310 | Nonsense | 214 | 275 | 6 | 7 |
| ENSDART00000136846 | Nonsense | 214 | 275 | 6 | 7 |
Genomic Location (Zv9):
Chromosome 22 (position 16588892)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 16340651 |
| GRCz11 | 22 | 16366921 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGGCAGCGGCGGACGGGTAACAGATGAGGTTCTAGACCGCCTGAAAGGCT[C/A]AGTCAGTTTCGGCTATGGGCTCTTTCACTTGTGTATTTCTATGGTGCCTC
Long Flanking Sequence:
CTATAGATGTAATAATGATATTTGTTTTTTGGCCCTTTATATGAAAAAGTTTGGGCACCCCTGATTTACAGCATAGGTCTCAAACTCAATTCCTGTAGAGCATCTAATCAAAAACAAGCACTTGGTGTTCAAGGTGTTCAAGCCAACTAGAGATTATAAGCAGGTGTGAGTTGGAGGTGGTTGGAGCTAAACTGTGCAGAGCTGCAGCCCTCCAGGAATTGAGTTTGAGATCATTAGTTAAGAGTCATACAAATACTTTCCATCCTTTAACCTTGTAATTGGCTGTTCCCCTTCAGCATACATCAAAGGAGGCTGGATCCTCCGCAAGGCCTGGAAGATGTACAACAAATGCTACAGTGACATCAGTCAGCTTCAAGAAGCCTGTCGCAGACGCTCCTCTGACCAGCAGGGGGCACTGGCCTCTGACCAGGCCAACCACAACACCTCGACCGGCAGCGGCGGACGGGTAACAGATGAGGTTCTAGACCGCCTGAAAGGCT[C/A]AGTCAGTTTCGGCTATGGGCTCTTTCACTTGTGTATTTCTATGGTGCCTCCACACCTGCTGAAGATTGTGAACCTGCTGGGCTTCCCTGGAGATCGACACCAGGGTCTGGCCTCTTTAGCGTATGCCAGCGAGAGCAAGGACATGAAGGCGCCCCTTGCCACGTAAGATTGTGTTGTTAGCAATTATTTGCAATTTACCTGCCTTCATATAAAAGTGCAATTGTGATCCACTGTTACTGCATGCCAAACCAACAGGCGGTGATACAAGTCTTTTATGTTTGGTTCATACGAAACTCAGAATTAAATATAAGCGTGAATAAGTTGCATACAAAGTCAATGCATTTACATCATTACGTTTACATTTATTCATTTGGATAACACTTTTGTCCAAAGCGGCTTTTTTAAAGAGAACTCAATTGAGGAGACATTCAGCGATCCAACAAGAGGCAATACACACAAGTGCTTATTATACACAGGAACTGTTAATCAGATATTCAGAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16055
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:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000105675 | Nonsense | 244 | 579 | 6 | 15 |
| ENSDART00000129310 | Nonsense | 244 | 275 | 6 | 7 |
| ENSDART00000136846 | Nonsense | 244 | 275 | 6 | 7 |
Genomic Location (Zv9):
Chromosome 22 (position 16588803)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 16340562 |
| GRCz11 | 22 | 16366832 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CWATGGTGCCTCCACAYCTGCTGAAGATTGTGAACCTGCTGGGCTTCCCT[G/T]GAGATCGACACCAGGGTCTGGCCTCTTTAGCGTATGCCAGCGAGAGCAAG
Long Flanking Sequence:
TTCCTGTAGAGCATCTAATCAAAAACAAGCACTTGGTGTTCAAGGTGTTCAAGCCAACTAGAGATTATAAGCAGGTGTGAGTTGGAGGTGGTTGGAGCTAAACTGTGCAGAGCTGCAGCCCTCCAGGAATTGAGTTTGAGATCATTAGTTAAGAGTCATACAAATACTTTCCATCCTTTAACCTTGTAATTGGCTGTTCCCCTTCAGCATACATCAAAGGAGGCTGGATCCTCCGCAAGGCCTGGAAGATGTACAACAAATGCTACAGTGACATCAGTCAGCTTCAAGAAGCCTGTCGCAGACGCTCCTCTGACCAGCAGGGGGCACTGGCCTCTGACCAGGCCAACCACAACACCTCGACCGGCAGCGGCGGACGGGTAACAGATGAGGTTCTAGACCGCCTGAAAGGCTCAGTCAGTTTCGGCTATGGGCTCTTTCACTTGTGTATTTCTATGGTGCCTCCACACCTGCTGAAGATTGTGAACCTGCTGGGCTTCCCT[G/T]GAGATCGACACCAGGGTCTGGCCTCTTTAGCGTATGCCAGCGAGAGCAAGGACATGAAGGCGCCCCTTGCCACGTAAGATTGTGTTGTTAGCAATTATTTGCAATTTACCTGCCTTCATATAAAAGTGCAATTGTGATCCACTGTTACTGCATGCCAAACCAACAGGCGGTGATACAAGTCTTTTATGTTTGGTTCATACGAAACTCAGAATTAAATATAAGCGTGAATAAGTTGCATACAAAGTCAATGCATTTACATCATTACGTTTACATTTATTCATTTGGATAACACTTTTGTCCAAAGCGGCTTTTTTAAAGAGAACTCAATTGAGGAGACATTCAGCGATCCAACAAGAGGCAATACACACAAGTGCTTATTATACACAGGAACTGTTAATCAGATATTCAGATAATCAAGTGCTAGAGTTAGGAGGGGGGGAAGTGTTTTTTTTTTTTTATAGAGAGAAGCTCACTGACTGGTGTAAAGCATATAAATATAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12531
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000105675 | Nonsense | 383 | 579 | 9 | 15 |
| ENSDART00000129310 | None | None | 275 | None | 7 |
| ENSDART00000136846 | None | None | 275 | None | 7 |
Genomic Location (Zv9):
Chromosome 22 (position 16580001)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 16331757 |
| GRCz11 | 22 | 16358027 |
KASP Assay ID:
2261-6647.1 (used for ordering genotyping assays)
KASP Sequence:
AAGATGCCTTCAGGTCATTCGAGCGGCTGAAGAACGAGTCCCGATGGTCA[C/T]AGTGTTATTATGCTTACCTCACCGGAGGTCAGATCAYACCCTTTCTCAAA
Long Flanking Sequence:
TCATTTGCTGTCACTCTATGTGGGCGGAGTAATACACAAGTTTGAGGAGGTTGTACGAGTCCTGTTATTACGGAATTATCGCACGGCTATCAGCCAATCAGATTCGAGAACCAGACAGAACTGTTGTAAAAATAAATATATATGTTTATATATATATAGTTTTACCTAAGATGAAAAGTACCTAAATTAACTATATTTTTGGTTGTTGTTTTTTTTTTGTTAACCCATTAAAGATGTTTTGAAGAAGCTTGGTAGTAATTGACTTCTATGGCAGGAAAAACAAACTATGAAAGTCAATGCCCACCAGTATCCAGCATTCTTCAAAACATCTTCTTTGTTCAACAGAAGAAACTGAAGGGTGAACTATCCCTTCAAGAACAGTGAATAATTCATTGCTTTCTGTGTGTTGTGTCTGTTCAGGATGGTGCAGTATGATCGAAATGAGTTTTGAAGATGCCTTCAGGTCATTCGAGCGGCTGAAGAACGAGTCCCGATGGTCA[C/T]AGTGTTATTATGCTTACCTCACCGGAGGTCAGATCACACCCTTTCTCAAACTCTCTCATACATCTCTATGAAATGAGCCATTTATTAACAACTTTTCCATCTCACAGTATGTCAGGGGGCTTCTGGAGATCTGGAGGGAGCCAAGGGGGTTTTCCGAGACGTCCAGAAGCTTTTCAAACGCAAAAACAATCAGATTGAGCAGTTTGCATTGAAAAGAGTGAGCTTTCTGCTTTAAGTAGTTTCACTTAAACATTCATAGATAAAAGGAACATTACAAAATGCTGTTTTTAGACTGATGAGTTTAAATCTAGCAGTTTAAAGACATACAAACTCATGGCTATAATGTAATTTTTGTATAGCAGTTTGTAGATTCAATTATTGATATTAAACATTAAATACTAATATATTACGCTTATGCAATGATATTGAATGTTTGTTTTAATTGCCATTTTGTTTTTATAATTGCAGTTACTGAGTTGTAGCTTGTTTTACAACGTAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24127
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000105675 | Essential Splice Site | 428 | 579 | 10 | 15 |
| ENSDART00000129310 | None | None | 275 | None | 7 |
| ENSDART00000136846 | None | None | 275 | None | 7 |
Genomic Location (Zv9):
Chromosome 22 (position 16579782)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 16331538 |
| GRCz11 | 22 | 16357808 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTTTTCAAACGCAAAAACAATCAGATTGAGCAGTTTGCATTGAAAAGAG[T/C]GAGCTTTCTGCTTTAAGTAGTTTCACTTAAACATTCATAGATAAAAGGAA
Long Flanking Sequence:
TTAACCCATTAAAGATGTTTTGAAGAAGCTTGGTAGTAATTGACTTCTATGGCAGGAAAAACAAACTATGAAAGTCAATGCCCACCAGTATCCAGCATTCTTCAAAACATCTTCTTTGTTCAACAGAAGAAACTGAAGGGTGAACTATCCCTTCAAGAACAGTGAATAATTCATTGCTTTCTGTGTGTTGTGTCTGTTCAGGATGGTGCAGTATGATCGAAATGAGTTTTGAAGATGCCTTCAGGTCATTCGAGCGGCTGAAGAACGAGTCCCGATGGTCACAGTGTTATTATGCTTACCTCACCGGAGGTCAGATCACACCCTTTCTCAAACTCTCTCATACATCTCTATGAAATGAGCCATTTATTAACAACTTTTCCATCTCACAGTATGTCAGGGGGCTTCTGGAGATCTGGAGGGAGCCAAGGGGGTTTTCCGAGACGTCCAGAAGCTTTTCAAACGCAAAAACAATCAGATTGAGCAGTTTGCATTGAAAAGAG[T/C]GAGCTTTCTGCTTTAAGTAGTTTCACTTAAACATTCATAGATAAAAGGAACATTACAAAATGCTGTTTTTAGACTGATGAGTTTAAATCTAGCAGTTTAAAGACATACAAACTCATGGCTATAATGTAATTTTTGTATAGCAGTTTGTAGATTCAATTATTGATATTAAACATTAAATACTAATATATTACGCTTATGCAATGATATTGAATGTTTGTTTTAATTGCCATTTTGTTTTTATAATTGCAGTTACTGAGTTGTAGCTTGTTTTACAACGTAAAATCAATATTTAAATGTTGATTGTGTGATATATTTGTAGCTATTATATAACTAGAAAAGTAAAGTTTGTAGACAAACTTTATGGTGTCTTGAGAGCCTCGTCTGAAAGTTTAAAGTGGTCACAAAGTTTAAATAATTGAAGTAGTTTAAGAAGTTTGAAACAGTCGGCATAGAGAGATAAATGCATGTTGGCATGTTCTATTATGGATTGGCATGTTTCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa32395
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000105675 | Essential Splice Site | 503 | 579 | 13 | 15 |
| ENSDART00000129310 | None | None | 275 | None | 7 |
| ENSDART00000136846 | None | None | 275 | None | 7 |
Genomic Location (Zv9):
Chromosome 22 (position 16577080)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 16328836 |
| GRCz11 | 22 | 16355106 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTCTCTCATATTGTGTGTTAATTATTGCTGTTGTTTGTTTTTGCTGATA[G/A]TCATTCCAGCTGGCAGCGCAGGATGAATACGGTCGTCTCAATAACAGCTA
Long Flanking Sequence:
AGTAGTGGAGGTGCTGTACTTATGGAAAGCTCTTCCGAACTGCTCTTCCTCTAAACTCCAGCTTATGAACCAAGGTAAGGAGAGTGTTGAGAGTGTGCGTGAGTGTTGAGCGTCTCTTTCCCTCATGATAACAGTGATGTTGCTGCTGTTTTCAGTGCTGCAGGGGCTCGACGACCAGTCAAGCATAGGCCTGAAACACCTGCTGCTCGGTGCTATTCAGAAATGCCTGGGAAACATTAAAGACGCTCTGCAGGTTTGTTCGCTCCTATATGCTGAGTTGACAATGATCACGTCACTAGCGCTAGATTACTCGGGGGATGTTTTTGTCCCTTTTCAAATTTTCCACTTGAGTTGAATTTTCTAAACTTCGAGGTAGCCAAAAAAGCATTTTTGGAACAAATGCAGCAACAGAATGCAGATTACAGCGCATGTTTTAAGCATATTTTGTTGATTCTCTCATATTGTGTGTTAATTATTGCTGTTGTTTGTTTTTGCTGATA[G/A]TCATTCCAGCTGGCAGCGCAGGATGAATACGGTCGTCTCAATAACAGCTACGTTCAGCCCTATGCCTGCTACGAGCTGGGCTGCGTCTTACTTGCTAAACCTGAGGTAAATCAATATATCCTCAAATTTCAACTGGCTAAACTACATTTAAATATTTCTTCATTTCTTTGTGTAGCTGATTTGATTTAAACTGACTCTCATTAAAAAGATATGAGAGGATTCGTTGTTAACTCATATTTTTCCCCTCCAAGACTTTGAGTAAAGGAAGGTCATTGCTGCTTCAGGCCAAGGTAGGATATGTTTAATGCTACTATTACCTGACTGTATACATTTTCAAATATTTTACAACACATTGTTTTAAACCTAAAAGTTTCTATAACTATTGTGTTTTTGCCCTGATTACAGTACATCATATTTTACTAGTTATTTTAGAAGATACTAGTATTCAGCTTAAAGTGGAATTGAAATGGTTAATTAGGTGAAGTCATTGGACAACACTG
Associated Phenotype:
Not determined