ZMP
si:ch211-106n13.1
Ensembl ID:
ZFIN ID:
Description:
E3 ubiquitin-protein ligase HECW1 [Source:RefSeq peptide;Acc:NP_001139236]
Human Orthologue:
HECW1
Human Description:
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 [Source:HGNC Symbol;Acc:22195]
Mouse Orthologue:
Hecw1
Mouse Description:
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 Gene [Source:MGI Symbol;Acc:MGI:2444
Alleles
There are 10 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa11509 | Nonsense | Available for shipment | Available now |
sa19894 | Essential Splice Site | Available for shipment | Available now |
sa33041 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa9016 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa33040 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa33039 | Nonsense | Available for shipment | Available now |
sa33038 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa33037 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa14857 | Essential Splice Site | Available for shipment | Available now |
sa19893 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa11509
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000029412 | Nonsense | 258 | 1538 | 5 | 28 |
ENSDART00000142835 | Nonsense | 272 | 1552 | 6 | 29 |
Genomic Location (Zv9):
Chromosome 2 (position 50513836)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 50209368 |
GRCz11 | 2 | 49943598 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGGCCAGGAGAARAGATCCGGCATCKTCTGCAATACCATTAATCCTGTWT[G/A]GCAGAGGGAGGTATGGCAAACAAACAAGAGCAAACGCACCAGATTAAACA
Long Flanking Sequence:
ATGATTCCTCATGATAATACTGTGCATTTAGAAAAAAAAAAAAAAAAATATATATATATATATATATATGTAAAACAACTATTATTTTGGATCGTCACAAATTTTTGCAGTTTCTGTTTTGTCAAGATATATTTTGTCATTATATTTTAATATTTCTATGCAGTTTTGTTTTAGTCTGAAATTTCTGTACATCTATTTTGTTCTCTTATATGCTTTTTTGTTCTGCTTATATTTTCTTCTATTGTTCATTTCTGTGCTGGTTCTTCTGTTTCTTTGATGTTATTTTCATTTTGCTCTCTTCATTGTCTACTTCACCTGCCATTCTTTTTCATTATGATCAGATTTCCAGGCCACCGGACTGAAAAAAGGCATGTTTTTTAACCCCGACCCCTACCTAAAGATCGCTATCCACCCTGGCAAACACAGCATCTTCCCAGCGCTGCCTCACCATGGCCAGGAGAAGAGATCCGGCATCGTCTGCAATACCATTAATCCTGTTT[G/A]GCAGAGGGAGGTATGGCAAACAAACAAGAGCAAACGCACCAGATTAAACATGCTTATATACAAATCCACATTAAACACTATCCGCTCGCCGTCTTATTTATTCATAGTCGTTTAACCCAACGCTGGCCTTCTGTGCTTTTGTAGAGTCCACACAGAGTTGGTCCTGTAAATCCTTCATTCTGCAAATAGACTGGATGCGTCACTGCAGACTCACAAACACTGACGCTGTTTGACTGACGGGATTTAACTGCATGTCATCTTTGTAGAGCTGGAAATTTGGATATTTAATTTATACAGTGCTCAGCGTATATGAATACACCCCTCACAAATCTCTCACTCAAATGAATGTTTTCTATATTAGTGGTTCTCAAAGTGGGGGTCGGGACCCATGAGGAGTCGCGGGACAATAAAGGGGGGATCGCCTGGTGATTTTCAAAAATCTATTAACTTTTATTAAACCTTAAGAATTACCATAATTTATCCATAACCTACTGAAAAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19894
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 |
---|---|---|---|---|---|
ENSDART00000029412 | Essential Splice Site | 309 | 1538 | 6 | 28 |
ENSDART00000142835 | Essential Splice Site | 323 | 1552 | 7 | 29 |
Genomic Location (Zv9):
Chromosome 2 (position 50506769)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 50202301 |
GRCz11 | 2 | 49936531 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCAAGCTGTCCATGCCAGTGCAAAGACTACTGGAGAAGCATGCTATCGG[G/A]TACGCATTACCACCACACCACATGACAACAACCTCAAAACTTTATTCATT
Long Flanking Sequence:
CATAGAAGTTCTAGTAAATTGAAACCACTTCAGTTCAGTTTTCAGCGTTGAAGTTCAGTTTAAGTTATAAATAAAGGAATTATGGTAATAATAATAATTGATGTTGCCATTGTGTAAGAAACAGACAAGCTCTGAGTGAAATATCTGGGTATTTTTTTGTTTTGTTGGTCTTGCATTAATTAATAACAGTATTTTTTTATAGTAATGAAGAACAACTTCTCACATTGCATTCATATAACTTTATAAAATCCTTTATTGCAAGATACCAACATGTTTCCTTTTTCATTTTAGGTTATGAAATTCAGCTTGAAATGATTGCTGTTTCTTCCTCTGTGTTTTTATGTTTCCTGCCTGTAGCGCTTTAATTTTGTGTCTCTGCCTACGGATGTGTTGGAGATTGAGGTGAAGGACAAGTTCGCCAAAAGCCGTCCCATCATAAAGCGTTTCTTGGGCAAGCTGTCCATGCCAGTGCAAAGACTACTGGAGAAGCATGCTATCGG[G/A]TACGCATTACCACCACACCACATGACAACAACCTCAAAACTTTATTCATTCTGAGTGTGCCTCACACAGGTGAGTGGGCATGACAAACCACCTATAGAAACACCTTTCTCTCTTTTAAAGAAGCACTCTGCCCTCCAAACTCTAGCACTTAATTCTCTGAGCACTATTTCCCTTTGTAAGTCGCTTTGTTGCCGCCCTAGTTGTACGCCACTTTGGGACAAAAGCATCTGCTAAATGACTAAATGCAATGTAAATGCAATGAAAAGATAATCAAACTAAATCTAGCCTCTTTTTTGTAATTTAAGCAGTATTTTTTTAAACGTGACTTTGCTTTTCATGCTAATGAGGAGAATAATGTCCTAATTCTTGTCACAGTGATCGAGTGGTCAGCTATACTCTGGGTCGAAGACTTCCAACAGAGCATGTCAGCGGGCAGCTGCAGTTCAGGTTCGAGATCACCTCCTCCATTCATCCAGGTGAATACAGTTTTCATTATGTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33041
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000029412 | Essential Splice Site | 343 | 1538 | 8 | 28 |
ENSDART00000142835 | Essential Splice Site | 357 | 1552 | 9 | 29 |
Genomic Location (Zv9):
Chromosome 2 (position 50501877)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 50197409 |
GRCz11 | 2 | 49931639 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGTATGCATCGTGCCAAATATGTGTAGGTCACAGATTTCTTCTCCCCAC[A/T]GATGATGAAGACATGTCTCTCAGCACAGAGCAGCCGGTGGCAGCAGCAGA
Long Flanking Sequence:
AGTTAATTTGTTGACCCTAAACATTTGAGCAATGTTTCAAATTTGATGACTAAAGGCTTAACTTGAAGCTAGTGTAATTGGGTAAGTCATTGCACAACAGTGGTTTATTCTGTAGACAATCAAAAACAGAGGGCTAAATTATTTATTAGAGGGCTAATAATATTGACCTTAAAATGTTTTTTAAATAAATGTAAACCGATATTATTCTAGGCAAAAAACTAAACAAATAAGACTTTCTCCAAAAGAAAAAATATTATAGGAAATACTGTGAAATATTTCTTGCTCTGGTAAACATAATTTGGGAAATATTTAAAAAAGGAAATTCACAGGAGGGAGAATCATTTAGACTGTATGAAACCTGAGCTCACGTGTTTTTCCCCATGCTTGGCGAATAAAGCTCTTTCTGATTTTGATTCTGATATATTATGCATCAGATCTAGACTGTAATTCTTGTATGCATCGTGCCAAATATGTGTAGGTCACAGATTTCTTCTCCCCAC[A/T]GATGATGAAGACATGTCTCTCAGCACAGAGCAGCCGGTGGCAGCAGCAGAAGCTCAAGCTCAGCCTCAAGCTGAAGACACCATGAGTTTAGATCTCGGAGCCCCGGAGCTGCCCTTAGATGGAGATACGGCTTCAGTCGAGATGCCCATGGATGTTGAATCTGGTCAGAGTTGTGCAGCTGAAGCAGATGTCATAGAGGAAGAGTGTTTAGAGGAAGAACAGCAGGAAGGAGAAGCAGCAGCAGCAGCAGCAGCAATGGAGCAAAGTGAAACCAATGCAGAAGAAACAACACAAGTAAAAGAATTTAATTCAGTTTAAGTTTATTTGTATAACGCTTTTCACAATAATTATTGTTTCTAAGCAGCTTTACAAAAGGTCATTAAATTAAAAAGTTAATGTTATTAGTTACAATAACTTTATCAGTTACCAGTAATAACTTGAACTAGTTAACTAGTAACTAATAGCTTTAACAGTTGTTCTAAATAAGCATAATGAACCTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9016
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000029412 | Nonsense | 430 | 1538 | 8 | 28 |
ENSDART00000142835 | Nonsense | 444 | 1552 | 9 | 29 |
Genomic Location (Zv9):
Chromosome 2 (position 50501615)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 50197147 |
GRCz11 | 2 | 49931377 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGGAAGAACAGCAGGAAGGAGAAGCAGCWGCAGCAGCAGCANNNATGGAG[C/T]AAAGTGAAACCAATGCAGAAGAAACAACACAAGTAAAAGAATTTAATTCA
Long Flanking Sequence:
ATACTGTGAAATATTTCTTGCTCTGGTAAACATAATTTGGGAAATATTTAAAAAAGGAAATTCACAGGAGGGAGAATCATTTAGACTGTATGAAACCTGAGCTCACGTGTTTTTCCCCATGCTTGGCGAATAAAGCTCTTTCTGATTTTGATTCTGATATATTATGCATCAGATCTAGACTGTAATTCTTGTATGCATCGTGCCAAATATGTGTAGGTCACAGATTTCTTCTCCCCACAGATGATGAAGACATGTCTCTCAGCACAGAGCAGCCGGTGGCAGCAGCAGAAGCTCAAGCTCAGCCTCAAGCTGAAGACACCATGAGTTTAGATCTCGGAGCCCCGGAGCTGCCCTTAGATGGAGATACGGCTTCAGTCGAGATGCCCATGGATGTTGAATCTGGTCAGAGTTGTGCAGCTGAAGCAGATGTCATAGAGGAAGAGTGTTTAGAGGAAGAACAGCAGGAAGGAGAAGCAGCAGCAGCAGCAGCAGCAATGGAG[C/T]AAAGTGAAACCAATGCAGAAGAAACAACACAAGTAAAAGAATTTAATTCAGTTTAAGTTTATTTGTATAACGCTTTTCACAATAATTATTGTTTCTAAGCAGCTTTACAAAAGGTCATTAAATTAAAAAGTTAATGTTATTAGTTACAATAACTTTATCAGTTACCAGTAATAACTTGAACTAGTTAACTAGTAACTAATAGCTTTAACAGTTGTTCTAAATAAGCATAATGAACCTGCAGTTATATAATATATACAGTTGAAGTCAGAATTATTAGCCCCCCTTTGAATTTTTTTTTTAATTTCCCTAATGATGTTTAACAGAACAAAGAAATTTTCACAGTATGTCTGATAATATTTTTTCTTCTGGACAAAGTCTTTGTTTTATTTATTTATATATTTGTTTTATTTTGGCTAGAATAAAAGCAGTTATTAATTTTTTTAAAAGCCATTTTAAGGATAAAAAAATGACTAGCCCCTTTAAGCTATATATTTTTTCGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33040
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000029412 | Nonsense | 729 | 1538 | 10 | 28 |
ENSDART00000142835 | Nonsense | 743 | 1552 | 11 | 29 |
Genomic Location (Zv9):
Chromosome 2 (position 50495787)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 50191319 |
GRCz11 | 2 | 49925549 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATCTATGAAGAATGTGCTGGCTTGTGTTTGTGGTGTGTTTAGGAGAATG[T/A]CCTTTGCCTTGTAACCACCCTGCAGTGAGTCAGCTGCCTGCCCTGCGGCC
Long Flanking Sequence:
GAAAGGGTAGTCAATTTGAACAGTACACAAAGGTTAACATTACTTAAAACATTATTATTTTTAATCTACAATCTCATCAAGCAGCCCTTCATGGCAATCATATCACAAGCTTCCTGTCGCATAATTATGTATATATGTGTAAAAACTCTCAAATGAACCGACGTTTTTTATTGACAATAAAAAGCAGGGACACACAGATAATAGTTCATCAAAATAGTACTTGTGCGTATATGTACAAAGAAAAGAAAACACTTTTGTGCATGAACACAGACTGCACAGATGCTATTTGCCAAATAATATTGGACTTGCATAGATCAGATTACCTTTTTTATGTACTGATATGGAAAAAAAGGTCCTAATTTTTTCATTTGACTGTAGAACATTAACTGCAAATGTTCATTTTGGGGTGAAAATTATCAATTTGGGGTACACTGACCTGTGATAGAAATTTATCTATGAAGAATGTGCTGGCTTGTGTTTGTGGTGTGTTTAGGAGAATG[T/A]CCTTTGCCTTGTAACCACCCTGCAGTGAGTCAGCTGCCTGCCCTGCGGCCCGATCCACACCACTATCCCACCATTGATGAGCCGCTGCCGCCCAGTAAGTGCTTCTGTCTCGCACAGCATCATAATACACTCACAGTCATACAAAATGCTCCTTTTTGAGTAGGGAATACAGGTGAACGAGCTGTAGGTTCACAAAGTAATATATTCTAAATCAAAAAGTAGATCAAAGTTGTTTTGTTTTTGCATTACAATATAAAGGGGACCTATTATGTCCCCTTTTTAGAAGATGTAAATAAGTCTCTAGAGTGTTTATGTGAATCTCAAAAAAACCCCACAGATAAAGTTTTATAACTCTTTGAAACCCTTTTGATCCTAATTGTGCCGTTTTGGGGACTGTCACTTTAAATTCAAATGAGACTGGGCTCTTTTCAAAAGAGGGCGGAGCTACAAATGCCTTTGTGTCAGCATAGTGGCAGAGTCAAAAACAAGACTAACGTTCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33039
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 |
---|---|---|---|---|---|
ENSDART00000029412 | Nonsense | 804 | 1538 | 11 | 28 |
ENSDART00000142835 | Nonsense | 818 | 1552 | 12 | 29 |
Genomic Location (Zv9):
Chromosome 2 (position 50492082)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 50187614 |
GRCz11 | 2 | 49921844 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCACATCTGCAGCCACGCCGGACGGCCTACGCAGGTCTGGATCCGTCCAA[C/T]AGATGGAGCAGCTCAACAGGAGGTAAACAACACTGGGCATCAGCCATTGC
Long Flanking Sequence:
CTGCTGGAGTGTGTGTGTGTGTACATACGTATGTGTTTGTGTAATGTTCCCACAAAATGACTCAAATATCAAACCTCCTACATTTGAGGGGATTTTCGAAGTAAAAACAAATGTACAAAGGCATTAAATGATGACCTAATTAGATAAATGTAGACTCAATACCGCTTTTTGATATCATCAATGATTGGAATCAGTGATATTATTAATGTTTTTGCTAAATATTTATGTATTTATATGATATTTATTAATCATTTCTGATTAAATAAATGCAGCATTGATGAGCATAGTGGGCTTCTTTTGACCCGCAGTGTATATTAAATGCTAAGCTTAATTTTGAGCGTCAAATGTTTTGGTTTTGTTTGGCTCGTTCAGACTGGGAGGCCCGGATCGACAGTCACGGTCGTGTGTTTTATGTGGATCACATTAACCGGACCACCACTTGGCAAAGACCCACATCTGCAGCCACGCCGGACGGCCTACGCAGGTCTGGATCCGTCCAA[C/T]AGATGGAGCAGCTCAACAGGAGGTAAACAACACTGGGCATCAGCCATTGCTCTTTTTTGTTATTCTATACTTTTTTTTTTTTTTTTTTTTTTTACCTCAATTATGAGATATTTTGAAGAATGCTGGTTGTTTGACTTCAATAGTAGGAAAAGTTTACTATGGGTGCCATCTATCAGCATTCTTCAAATAATCTTTTTTTTGTGTGTTTATTACTGTAGATCAGTTGCTTAATTACTTTAGATTTATTGTTTTATTATTGCGGTATTACTACAGGCTTCTTACTGGAATTTTATGCAAGCTTGTAATTTTTATTTGTAATTGTATAGCTTTTATTGCTTTGACTTTGAGAAAAGCACATCATAAATTAAATGCATTATTATTATTATTATTGATATAATTATTATTATTGTTATTGTTGTTGTTATTATTATTATTATTATTATTATTATTGATTTTATTATTATTATTGATATTATTATTATTATTATTGATATTATTAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33038
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000029412 | Nonsense | 927 | 1538 | 14 | 28 |
ENSDART00000142835 | Nonsense | 941 | 1552 | 15 | 29 |
Genomic Location (Zv9):
Chromosome 2 (position 50485064)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 50180596 |
GRCz11 | 2 | 49914826 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAATGTTCACCAACAGCTCGTGTCTGAAACACATGGTCCTGAAAATTCGA[C/T]GAGATGCTCGAAATTTTGAGCGCTACCAGCACAATCGTGACCTGGTGACG
Long Flanking Sequence:
TGTAGGCAGAAGCCTGAAACACTTTATATACTGTAGGTCAAAGTTATTGATTTTTAATTTATTCCAAAAAGAATTTGAATATTAAATATAATGTTTCATGAAGACAATTTGTAAATTTCCTACTGCAAATATATTAACATTTAATTTTTGATTAATAATATGTATTGCTAAGCACTTCATTTAGACTGACACATTTCAAAATGATTATTTTTTCTATCTCAGATTGCAGATTTTCAAATAGTTGTATCTTGGTTAGTTGTATGTAGTTTCCCATCCTAACAAACCATACATCAATGGAAAGCTTATTTACTTGTGCTTTCATATGATGGTTACATCTCAGTTTACAAAAAAACGAACCCTTTTAGTTTAAGTTGTTATTTTATTTAGTATTTAATGTTATTTAGTTGTTTTTTTTTTTAAATATTCTTTTTTCCCCCCAGGGTGCATATCGAATGTTCACCAACAGCTCGTGTCTGAAACACATGGTCCTGAAAATTCGA[C/T]GAGATGCTCGAAATTTTGAGCGCTACCAGCACAATCGTGACCTGGTGACGTTTCTGAACAGGTTTGCAGACGCTCAGCTGGAGCTGCCGCGCGGCTGGGAGATCAAAACTGACCCGCAGGGGAAGGTAGACTACAGGACACACTTCATTACGGGAGCTCCTATCAGTTCAACCATTATTTCACGTCCACTTTCCTTTGCAGTCATTTTTTGTAGACCACAACAGTCGTGCCACAACCTTCATCGATCCCAGAATCCCCTTGCAAAACGGCAGATTACCAAACCACCTGACGCACCGCCAGCACCTGCAGAGATTACGCAGCTACAGCGCAGGAGAGGTCAGACATACTTGTGCTGTATCCAAAATCACCCTCATTCACTATTCCCTACTTAGTCCACTTATATAGTCCACTTAAAGAACTCAACGAATGACTTTGAGCACTCAATGCGCCAAAATCAATGACCGTTTTTTTGTGCTTTGAAAAAATGAACTAAATATTAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33037
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:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000029412 | Nonsense | 1192 | 1538 | 21 | 28 |
ENSDART00000142835 | Nonsense | 1206 | 1552 | 22 | 29 |
Genomic Location (Zv9):
Chromosome 2 (position 50473517)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 50169049 |
GRCz11 | 2 | 49903279 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATTTAATTTATTTTTTTTTTCAGATTGATCGTCAGAAGAGATCATCTTT[T/A]AGAAGGAACGTTTAACCAGGTCATGGCCTACTCACGTAAAGAGCTGCAGA
Long Flanking Sequence:
GCTTTAGGCACACTATAGGCGTGATTTGTCTTGAAGTGACCTGATTGGAAGAATTGATTTATTTTTATTTGAAAATAATAACAAGGTTTTAACAAGGTTTTTAAAGTTTGGATCAAGATGGGCCAAACTTAAATGGGCCAAATATCAATTATTAACATCTGGGCAAAATACTACAATTTATATCTGGCCCAGTTATTGTGTGCCACCTTAAAGACTGTCACCTCTGCCAAATCAGGGCCATGTTTGGTCCACATGCTGTTTGCCTCCACACTCAGTCACACCATCATCAAATTACACCTTTGTTTGTTGTGAATACTCACCCTCTAGTGGCGAAAATTAAACCCTGTGCATTTAATTGACAATAATGCAAAGAAGCACAAACAGGAATGTGTTGCTGCTCAATGAATATTTATTGTTATTGTCAATGTTGAAAACTATGTTGCTTGATTGTATTTAATTTATTTTTTTTTTCAGATTGATCGTCAGAAGAGATCATCTTT[T/A]AGAAGGAACGTTTAACCAGGTCATGGCCTACTCACGTAAAGAGCTGCAGAGAAACAAGCTGTACATTACCTTTGTGGGAGAGGAAGGGTGAGATAGACCACACAATGCTCAAATATAAACCAGCCATAGGAGAAGATTGCATTATTCGAAGAAAAAAACTCTGATGTCTTGTTGATGATGTATATTAAAGGCATAGTTTACCCAAAACTGAAACTGTTTTGTTAGTTTACTCATCCTCAGGTTATCTAATATGTAGCTGACTTTTTTCATCTGTGGAACATTAAAAAAAGATGATTTTGAGCTGAACTCCTCATCCTTGGGGATTCATAAAATTGCAGGGAATGTTTTTTTTTTTTTCAATTAAAAATAAACACACACAAATGTGTCCAAATCAATGGCCCAGGGTAGGGCCAGACAGAATCTGCAGACATTATTTGCTATTTCTGCTGAGATCTTTGTAAAATCTTTGAAGATTTATGCGGAATAATTTCAGGAGTATC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14857
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 |
---|---|---|---|---|---|
ENSDART00000029412 | None | 1397 | 1538 | 25 | 28 |
ENSDART00000142835 | Essential Splice Site | 1411 | 1552 | 26 | 29 |
Genomic Location (Zv9):
Chromosome 2 (position 50461695)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 50157227 |
GRCz11 | 2 | 49891457 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGCGAGGCGTTGTCCAGCAGACACAGGCTCTGGTGCGAGGATTTTATGAG[G/A]TAAACATGCTTAASATCCAATTTACTCTCTGCTGTGTACTATTAAGTCCA
Long Flanking Sequence:
TAAGTTGGCGGTTCATTCCGCTGTGGCAACCCCGGATTAATAAAGGGACTAAGCCGACAAGAAAATGAATAAATGAATGAACGTGGCTGACAATAATACATATTTAGGATAATAGGAATTAATCTGCCTGGTTTTTGAACAGTGCAGAGTTGTAGCTGCTTAATTAGGCCTACTACACTACTGTATTTCAATACTGATCATTAAGTCAAAAAGTTTAAGAACCACTGCTATAGTTCATTAAAACTGTTTTCATATGTCTTTATATGAAGCAGCTACTTTAATAAAACATGGGGCAAAGTATTTTGTTATAAATTAAACAATAATCCTCTTTTTCTGTGTTGTTTGTATGTCAGGTGACAGAGCGGGAGCTGAAGTCTGGCGGGACGAATGTGCAGGTGACGGAGAAAAATAAGAAGGAGTACATTGAGCGGATGGTGAAGTGGAGGGTGGAGCGAGGCGTTGTCCAGCAGACACAGGCTCTGGTGCGAGGATTTTATGAG[G/A]TAAACATGCTTAACATCCAATTTACTCTCTGCTGTGTACTATTAAGTCCAAGTGCCATCATTTAACCTCTGACCTGTGCATGCATGTGTGCAGGTGGTGGACTCTCGTCTGGTGTCTGTGTTTGATGCCAGAGAGCTGGAGCTGGTCATCGCAGGAACAGCAGAGATCGATTTGAACGACTGGAGAAACAACACAGAGTACAGAGGAGGTCAGAGCACACTCACAAATATATATAAATGCGTTCAAAAAATACACCAATACACTGTTACTGTGATTGGAGCATCAGCAAACTTTTGTATCATCACAAAAGCTATTAAAACACTCTTTAATGGGTTTTTTTCAAACAATTAAATTGTTAGTTTACAATAAATTGAAGATTCTGTTAATAATTACTCACCCTCATGTCATTTCAATTTAATGTGACCTTTGTTTGGAATACAAATGAAGATATTTTAGATGAAATTCAACCCTCCATACACAGCAACGGCCCTAAGACTTTC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19893
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 |
---|---|---|---|---|---|
ENSDART00000029412 | Nonsense | 1506 | 1538 | 28 | 28 |
ENSDART00000142835 | Nonsense | 1520 | 1552 | 29 | 29 |
Genomic Location (Zv9):
Chromosome 2 (position 50455033)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 50150565 |
GRCz11 | 2 | 49884795 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTCAGTCTTGCTGATGTATGTCTCTCATGTTTCTCAGGGCGCACACATG[C/A]TTTAACCGTCTGGATCTTCCACCATATCCATCCTACACGATGTTATACGA
Long Flanking Sequence:
AATCTGTTTATCAAATCTTAAGCCATCGTCAAAGATAACACCCAGATTTTTTACAAAACGCTTCACAGAAAAACCCAATTCCCCAAGACCTGCTGGTGGTGTCCTAGAATAATTTGATGAGCCGAACACAATTATTTCAATTTTACTCTCATTAAAATCTAGAAAGTTCAAAGACAACCAGGCTTTCACATCCGACAGGCATAAGAGTCTCCAGTCCACTTGAACTCGGTTTTAAAGGCAGGTAAATTTGAGTGTCATCTGCATAACACTGGAAAGACAGACTATGTTTTCTAAAAACAGAACCCAGGAGAAGCATATATGAGGAAAAGAGAATAGGGGCTAAAATAGATCCCTGAGGAACACCACATGACAAAAAGGCTGCCTCAGAGGAATTTTAGTCATAAAAAAGTCTATGAACCCTGTAGTAGTCCAAATAGGACACAGAATTGTGTTCAGTCTTGCTGATGTATGTCTCTCATGTTTCTCAGGGCGCACACATG[C/A]TTTAACCGTCTGGATCTTCCACCATATCCATCCTACACGATGTTATACGAGAAACTCCTGATCGCTGTGGAAGAGACCAGCACTTTTGGCCTTGAGTGAGGGCTTCACATGAAACACCGTCCTCTGGGAGAGCTCCACTTGTACACTGTATGTATTTCTCTACTAGCGTGGATCGTTTCTTTGGTTTGTTCAGGACACCACTGCATGCTTCTGTCGCCTGCGCAGGTGGACGGTGAGTAACGGGTACACAATAGTGATCAAAAAAAAGAGAAGCCTTCAACCTGCTTTAACACTCAGGGCCTCGACCTCCGCTGGAGTCGCTCTCAGTTCACACACACCATCATCATTTCAACGCAAAACCGCCACGGCCGGCGTCCTTCACATTTTCACATCGATGAGAATTGTAAAATGAAAAACCAAATACGCTCACAGAAAATATTGAACGAAGGTGCCGTGATTACTGTACATGTGTGCACTAGTGCTGAGTTCACATAATCTCA
Associated Phenotype:
Not determined