ZMP
Q503E7_DANRE
Ensembl ID:
Description:
Npat protein [Source:UniProtKB/TrEMBL;Acc:Q503E7]
Human Orthologue:
NPAT
Human Description:
nuclear protein, ataxia-telangiectasia locus [Source:HGNC Symbol;Acc:7896]
Mouse Orthologue:
Npat
Mouse Description:
nuclear protein in the AT region Gene [Source:MGI Symbol;Acc:MGI:107605]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa16436 | Nonsense | Available for shipment | Available now |
| sa10511 | Essential Splice Site | Available for shipment | Available now |
| sa17688 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa16436
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 |
|---|---|---|---|---|---|
| ENSDART00000077919 | None | None | 413 | None | 14 |
| ENSDART00000123143 | Nonsense | 473 | 1328 | 14 | 21 |
Genomic Location (Zv9):
Chromosome 15 (position 24864731)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 15 | 25598163 |
| GRCz11 | 15 | 25533428 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGTCTTCCTCTACAGCTCCACAGGCACATCACCTAACCAAACAAACTGGA[C/T]GAGGATCCACAAACTCCAAAAGAGGGCTGATCAGGGCTAGAGTTTCACCT
Long Flanking Sequence:
ATTAAAGTCAAATTGGTGTAAAATATTGTGTATTGTTTTTTTTATCGTTGATGAGAAATTTAATTCGATTATATAATTGTGTAATTTGTAAGTACTCCTTAGAAATTTCAGTATGGGATTTTAGGTTTTTTTCAACTTGTTACAAATAATAATCAAAACAACATAATACTGTTAAAAAATATTGTTCAAACAATAAATTGATATTATTTTTTTTTACTTTAAGATGAAAAGTCACCTCTTTTTTTCATGCTGCAATTGTTTCTCGGAAGTCATACCTACACTACTTTAGCAATAATGTACTTTATTGTAAATAAAACTGTTTATAAATTGATTTTATGCAAGCCACTGGACAGGAGGATTCCACATCTGGGGGAGAAAGCAGTGCACAAAACATACGCAACCAGAATACATCTGAATCAAATGGCAAAAAGAATTTCCCTGGCCTTCACAAGTCTTCCTCTACAGCTCCACAGGCACATCACCTAACCAAACAAACTGGA[C/T]GAGGATCCACAAACTCCAAAAGAGGGCTGATCAGGGCTAGAGTTTCACCTGGCAATAAACAATCCAGAGTTGCCACTTCAACTTCTTTATTATTGAACGATAAAGCAGACTCGCGTTCACCTGATAAAACCGTAACAAGCTCTTCTTTCACAGAAGATGGAATTGGCATGGAAATAGACGAGCCGGAAAATGAAAACTCTGACAGTGTAAATATTCAAAATCAACAGGTAGTTCTTCACGAGAGCTCACTCATCCCCAAAACACTCAATAATGTGAGCAGTCAAGTCTCTGTGTCAAATAAGAGTCCTCAAACCACGTCCACTACAGAAACCTCTGATAACACATCAGTAAATGAGCCTGGCAGAGTAACAGGACAGAATGTAGAGATGGAAACCCCTTCATCTATTCAAAGTGAACCTGCATCCACACTTTACCAGCCCCAACCTGACAGAGACACTTCCATCAAAATCACTTCTCCACCTTCCTCAAATAAAACACCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10511
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 > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000077919 | None | None | 413 | None | 14 |
| ENSDART00000123143 | Essential Splice Site | 852 | 1328 | 15 | 21 |
Genomic Location (Zv9):
Chromosome 15 (position 24867805)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 15 | 25601225 |
| GRCz11 | 15 | 25536490 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
RCATTCTTTTTCTCTTCCTGCATGTTTGAAATTCCAACTTTTTTATTTTT[A/T]GGCTCMACTATTATTATATCGTCACCTGTTCAGCCTATGTTACAAAATGT
Long Flanking Sequence:
CCCTACCCCCTCACAAAAACGTGCAAAATGAAGGGGAAGGGCTAAGGGGTAGAATTGGGATTGGGCCTAAGTCTTACCTGATTTCAAGAAGGGTCATCAGTAGAATTAAAGGGATAGTTCACTCAAAAATGAAAAGCTACTCACTATTTACTCTCCCTCAAGTGGTACCAAACCCTCATGAATTTACCTTTTTCTGTTGAAAAGAAGATATTTTGAAAAATGTTAGAAATCTGTATTGTACACTGATATAAAAGGCAAAACAAATACCATAGAAGTCAATGGTTACAGGTTTCCAGCATTTCTTTAAATAATTACTTTGTGTTCAGCAGAAGAAAGAAAGGTTTAGAATAAGTGAGGGGTGAGTAAATGATGACAGAATAGTTTTGGGTGAGCTATTTCTTTAACTTGATTATGTTCACTTTTCTGTCAGTTGTATGTTTATGTTGAGATACATTCTTTTTCTCTTCCTGCATGTTTGAAATTCCAACTTTTTTATTTTT[A/T]GGCTCCACTATTATTATATCGTCACCTGTTCAGCCTATGTTACAAAATGTGGTGCTTCCAGTGTCTGTTATGGGGCAGAATACTGGAAAACTCACAGTCCTTCCAAATCAGGTCAGTATCTTTGTAGTTTTTTTTTTTTTTTTTTTAAATAATGCTAATTTCAGTGTCTTAGTATTGTTTATAATCTTTACTCTTTAAATACAGATGTTGACTTTGCCACGTTCAACCACTGTGAGGCAACCTACGAAAGTAATTTCGCAACATAAACTGGCACCCAAGGAAAACACTGACAATGGTAAGACAGACTTAGTTTTCAGATTTTTTTTTTTTATATCTTTTTTTTCTAAATTAAAACTGTTGCAACACACACATACATGTTGACAAGGGACTTTTCAAAAGACTATTATGACATGTTTAACAGGCATCAGCATTTTAAATTCTTAAAAGTTTTTAATATATTATTTTTTTAAATGTATGAACATTTATGTTTTTATGTATGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17688
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 |
|---|---|---|---|---|---|
| ENSDART00000077919 | None | None | 413 | None | 14 |
| ENSDART00000123143 | Nonsense | 1071 | 1328 | 20 | 21 |
Genomic Location (Zv9):
Chromosome 15 (position 24869471)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 15 | 25602886 |
| GRCz11 | 15 | 25538151 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TAACATCATCTGTCCCGGGGCCAAAACAGAAACCATCAGACAACTCGAAA[G/T]AATCATCAGGTGAAAAGACTCTCTCARAYCCACCAGAAATGTCCTCAGAG
Long Flanking Sequence:
TTCAAGTTTCCAAAGTGCTTTCCCAGACTTCTGAACAAGAAAAGGGTGTAAATGGGTCAAGCCCCAGCCACCGGCGGATACTTTGCTTTGACGTCACGCCTGAAAACAATGCAACTGGACCAAATTCCTCACAGACAAGCATGCTCACGTCCTCTGCTGTTACATCCTCCTCGACTCAAAAAGAAATCACACCCACTAAAGCCAAACAGCCTTCAGCTTCTGACACATCCAAGCGAAGAATAGAAACAACTAGACTTCCAGAAGTAAATACCAACACGGGGGCAAAAGACTCCACAAAAGTCACCATCTTTCATCAACAAAAGGAAGCTCTGAAAAGTAGTGTGACTGATAAAGAACCTAATATAATCGAAAGTACCAAGCCTTCACACAAAGAGTCTGTTGTTATATCAGAATCATCACAAAAATCACAAAGCAAAGATGCAGGGCCTTTAACATCATCTGTCCCGGGGCCAAAACAGAAACCATCAGACAACTCGAAA[G/T]AATCATCAGGTGAAAAGACTCTCTCAAACCCACCAGAAATGTCCTCAGAGAAAACATCCTTACAAGATTCTCCAGGCATCACTGCTAATAAAGAAAATGAGCTGGAGAGCAGTCAAACACTAACACGTCCCACTGACAATCTTGTACCTTCTCCAGCAAAATTTGCAACACCGTTATTAAATTCTTCCAGTAAAACTTTATGCAAAACGAGCCCTCTGACCAAACAGGCTGTTGAGATGCTGCAGGACATACAAGGTCAGACACCTGTGGCAACTCCTCCGAAAAAACAAGCAATCGGATGTCCAGATCTCCCTCTTCCAAGAACACCCGGACCTGGTCGTGCACTAGAGGATCTGACAGATGGATTGAGAACGCCGTCCCGCCAGAGGCTGAGGCGAGAGGGTGAATGCACACCTAGGCATCTCCCGCTGCCCGCCACACCTGACATCCCCTCCTGCAGTCCTGCCAGTGAGACGGGCAGCGAGAACAGCATCAACATG
Associated Phenotype:
Not determined