ZMP
si:ch73-215d9.1
Ensembl ID:
ZFIN ID:
Human Orthologue:
KIAA0319
Human Description:
KIAA0319 [Source:HGNC Symbol;Acc:21580]
Mouse Orthologue:
D130043K22Rik
Mouse Description:
RIKEN cDNA D130043K22 gene Gene [Source:MGI Symbol;Acc:MGI:3036268]
Alleles
There are 10 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa18427 | Essential Splice Site | Available for shipment | Available now |
sa14911 | Nonsense | Available for shipment | Available now |
sa16403 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa18427
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000113025 | Essential Splice Site | 306 | 1061 | None | 25 |
ENSDART00000143692 | Essential Splice Site | 123 | 773 | None | 18 |
Genomic Location (Zv9):
Chromosome 16 (position 38324926)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 36957454 |
GRCz11 | 16 | 36911338 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACTCCAGCCAACACTGAAGCTACACCGCAGATGACTTCAGAACAGCCAGG[T/G]ACTGTGCGCAATATTGGGGAAAGTTACTTTAAAAGCAAAAATGCTGTACT
Long Flanking Sequence:
ATTGTTTATAATTATAATAATTTAATTATAACATTAACTAATGAAACCTTATTGTAATCTGTGACTATTATAATTATTAATTTAAGTAAAATAATAACATTGAAGAATCCATTTGTAACCATGGCACAGTAATCAAGACCGGCATTGCTCTTACTGATAGCTGCCAGTTCATTATCATTGCTTGAAATGTCACGATTCTATTTTAATGCTGTGGCGTCATTAGGAAACATGGTGTCTTAAATGTTCTCCCACTCTGGCTAAGCGCTTAATCAGTCAGTTTTATGTCTCATCTGTTGTGTGAAATCTGTAGACATGAGTATGAAAACACTTTTATCATTAAAGGTTGAAGAAGAGCCACAGAACACATCGTCTGCAACTACTGCACCTAAAGTCGTGGAAGACCTCAGTACAGAGACCGCAAACTTTAGTGCAGTCAACGGTTCATTCATCACTCCAGCCAACACTGAAGCTACACCGCAGATGACTTCAGAACAGCCAGG[T/G]ACTGTGCGCAATATTGGGGAAAGTTACTTTAAAAGCAAAAATGCTGTACTAAGTAACTTTTTTTAATTAAAGTTATGTGTTACTTTTATGTTACTTTTTCATCTGGCCTGGGCCTGCTTTTAATAACACACACACAAAAAAAAAAAACATAAAAACCTGAATGTTTTTGTAAAACCCTTTTACTACAGTAGCTGAGAGAGCTCACAGTTAAACAAATGTAAATAAAGAAAACACTAACAAATTGAGAAAACATCTTAATCAATTTGACCACACATGTACATGCAAATTCTCACAACACATGCAAATACAGAAATGTGCTGCAAATAATGCACATTAAATAAATATTAAATGCTAATTGTGCAATTGTCAGGTTATTAGGGCTAAAAATACTCAAACTGAACGACCAGGGCATTAAAATTAACATAAAACTCACCTCAGATCTTCTCCAACACTGCTGACTTTAGTAACTGAAAGTAACTTAAAGTCATTGCCGGTCCCAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14911
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000113025 | Nonsense | 501 | 1061 | 13 | 25 |
ENSDART00000143692 | Nonsense | 278 | 773 | 7 | 18 |
Genomic Location (Zv9):
Chromosome 16 (position 38328749)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 36961277 |
GRCz11 | 16 | 36915161 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTGGAAAAAGGTGGACGGCCCGTTTTGGACACCTGAAGGTCCTGTTAAY[A/T]AAMCTGTACTGCAGCTGAAAAATCTTTTAYCTGGAGAATATACCTTCGAG
Long Flanking Sequence:
ATTATTTTCAATTTCTGAGAGCATTTCTGTATCCTTTATTCCAGCTGTCAGAGGGTGTTTACGCAGTCAGAGTGATTGTGAAAGCACATCAAGCATATGGAGAAGGTTCTGTGGACTTGACCGTACACCCTGGTACAACTATACCCTCTTTGCATCATCATTTATTCACCAAAAAAAAAAAAAAGTATGTGCATCATGTGCCTCACACAGTGGATGAATTGGCTTCCTTTTCATTCTACAGCAGAGAAAATAAACAAGCCTCCTAAAGCAGTCGTTCTTCCCAAGAGCCAAGATGTGCTGTTCAAAAAAGATTCTGTCTTAATCATTAACGGAAGTGGTATGTGGCCTGTTTCCTTTTTTCTGCTTTTTGCTATAGATCTATTAGGTCATGTGTTTTAACTAAATTTGCATTTCCAGAGAGTATGGATGATGCAGGGATTGTCAGTTATCTGTGGAAAAAGGTGGACGGCCCGTTTTGGACACCTGAAGGTCCTGTTAAC[A/T]AACCTGTACTGCAGCTGAAAAATCTTTTACCTGGAGAATATACCTTCGAGTAAGGACTTTTGTTTTACAAAAAATAAATAAGGCATTTGACACAGTAATAACACATTGATAAATTAAATATGGGCTGATTTGCATACATTTCTAACTAAAAAAAAAACTGATTAGAAATACTTATTATACTTATAATATATTTATTTAGGTTTAAAGGTTTTTCCAGGGGGGATTTTGGATTTTTTATTTATATCTCCTAATAATTTTGTTCTGTCATGACAACTCTATTACAACTAACTTGAGATATAGTATGGTAATAAATATGTATCTAGCAGTGTTGATGGGTTTGGTCTTGGTGGAATAAATGTGCTACGCTGCTGCTGCTGCTGCTTTGATTATTTTGGCAGAGCATATAAAGTTAACACACTGCTGTTCCAAACATAATATACAGTTAGGTCCATGAATATTTGGACATCGACACAATTCTAAAATTTTTGGCTCTGTACACC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16403
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 |
---|---|---|---|---|---|
ENSDART00000113025 | Nonsense | 542 | 1061 | 14 | 25 |
ENSDART00000143692 | Nonsense | 319 | 773 | 8 | 18 |
Genomic Location (Zv9):
Chromosome 16 (position 38331072)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 16 | 36963600 |
GRCz11 | 16 | 36917484 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGCTGAGCGACTCCAGCACTGCCACCTTGAGGGTCAGCATCCCAAAAGAT[G/T]AGCCTCCTCTGGCCAGAGCGGGCACAGACCGGGTCATTACCCTGCCTCTC
Long Flanking Sequence:
AACCAAAAATATTTTATCATTTATTAATTTATTTTGTAGAAAAAAATGCTGTTCATAAGCAGACAAATTATCTATGAGCCCTCTAAATAAACCTTCAGAATTCATACTATATACATAAAACAAAGTTGTGTGTATGTCTGTACCGCTGAAGTGAATATTTATGGCTTAGTGCAGGAGAAAAAACTTATTTTGAGAAAATGTTTGATGTTCTAGAAATCCACAGACACAAATGACTAAAATGTGTTGAAATAAACTCTTTAAAGTGTTTATTTTCTATATGAAAACTATTATGCCGTGAAAAAGACCAAAACTGACATAGGCATGAGGCTGTTGAAATCTTTAGTGAATGATTCCTTTGGGTTTTCTTTTAATTAGTATTGACCTCATTAACTTCATCCTGACCTGATTTTTGCTTGGCCTACATTAGGCTGACAGTGTCTGATTCTGAGGGGCTGAGCGACTCCAGCACTGCCACCTTGAGGGTCAGCATCCCAAAAGAT[G/T]AGCCTCCTCTGGCCAGAGCGGGCACAGACCGGGTCATTACCCTGCCTCTCAACCACCTCACCCTGTGGGGAAACCAAAGCACAGATGACCAGGCCATTACAAGCTACCTCTGGACACTCCATCCCAGCAGCCCGACCCGAAAGGTCACCATGCAGGTAATTAGATCTTTACTTCACCCAGTGGAAAATGTAAGGTTGACCTTTTTTTTTAACTACAGTTGTTGACAGGAACGGTTTGTCTACTGCAATGTCACTTCTAAAACTCCTAAGGAGAAAGAAAATAAAATAAAATGGGTGTTCTGTTATTTTGTAACAATCTTTCTGTTTAGTTCATTCCCAAAACATTTGGGCATATACATTGTCAGTAAATAAACCAGATGGAAACCTACTGAAAAACGCCTTAGAATAACATTGAAATAAATTGCTATAACTTACTTAGGGAATGGTGGCAACATGCACGCTGGATGTATAAAACATCCTAGCATAACTTTCTAAAGAAAC
Associated Phenotype:
Not determined