ZMP
shank3a
Ensembl ID:
ZFIN ID:
Description:
Novel protein similar to vertebrate SH3 and multiple ankyrin repeat domains 3 (SHANK3) [Source:UniPr
Human Orthologue:
SHANK3
Human Description:
SH3 and multiple ankyrin repeat domains 3 [Source:HGNC Symbol;Acc:14294]
Mouse Orthologue:
Shank3
Mouse Description:
SH3/ankyrin domain gene 3 Gene [Source:MGI Symbol;Acc:MGI:1930016]
Alleles
There are 10 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa16683 | Essential Splice Site | Available for shipment | Available now |
sa17971 | Nonsense | Available for shipment | Available now |
sa8619 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa8445 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa25052 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa16870 | Nonsense | Available for shipment | Available now |
sa43043 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa23228 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa16683
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 |
---|---|---|---|---|---|
ENSDART00000092456 | Essential Splice Site | 214 | 1467 | 4 | 12 |
ENSDART00000139188 | Essential Splice Site | 101 | 185 | 3 | 4 |
ENSDART00000139505 | Essential Splice Site | 101 | 1353 | 3 | 11 |
Genomic Location (Zv9):
Chromosome 18 (position 7168902)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 18 | 7746592 |
GRCz11 | 18 | 7705527 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCTATTACGACGATGCATGTTAATGTGTGTGATGTTGTGTTTTTTCTKTC[A/T]GAGACRAGAGAGGATCGAAACAAGAGGCTRTTCAGACATTACACTGTGGG
Long Flanking Sequence:
CAAATTAATGTATTTTACGTTTCTCCCATATTTTAATGGTTACATTCCAGCAACCATATCTTACGCTTATTTTACCATCAATTTTACAGATTTTTCTTTTTTTTTTTTACAGTGTAGGTGTGTGAATGTGTGTGTGTACGTGTGTCAGCAGATCGGCTTTCTGTAGGGGAAGCAGTGCATTGATTTCCAGCTGAAAGTCCAATCACATAAATCTGGTCTGGCTTGAGACACCAGGCCTATTAGCCAGACCTTCTCACTGGATTAACAACACACACACACACACACACACACACACACACACAAATATATACAATTGACCTTGCCTCTGCATTTAATTAAGCCTGTCTTAGTTTCTGCACACACATTTCTGCATAAGGCTGATGAGAGACATGCGGTCGGCTCGGAAATGTAATGCAAATATGATAAGCAGCTTGAAAATGATAAATGTGGTCTATTACGACGATGCATGTTAATGTGTGTGATGTTGTGTTTTTTCTTTC[A/T]GAGACGAGAGAGGATCGAAACAAGAGGCTGTTCAGACATTACACTGTGGGCTCCTACGACAACTTTACCTCATATAGGTAAGGTATACATATTTATGGATGCATGCATTGATAAATATAAGGGCATTTTTGTTATCAGCAGCTCAAGGTTAGCCTGAAGACATCGCAGGTTGTTCTGACTCATTTATCAAAGCTGGTGTTTGTAGTGTTGAGTCTCTACTGCCATCTAGAGGATAGATGTTGTCAGCACACATTCGCAGACGTCACACACATGCTTTCTTTTTTTATCGTTCACCTTTTTTATTGCATCCTACAATCTATTTTGTTTGTTAAAAAAAACAGTTACATGATTTACTTGAATCCTCAGCATTTAATTTAATAAGATTTTAGAGCCTGTATAATATTAAAATGCATTCTTCTCAATGTTGCAGTGTAATTTGCATATGTAAATTTACTTATGTATGATAGCCACTGTGTCCGCTTACACTAGATTGGCTATGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17971
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000092456 | Nonsense | 553 | 1467 | 11 | 12 |
ENSDART00000139188 | None | None | 185 | None | 4 |
ENSDART00000139505 | Nonsense | 439 | 1353 | 10 | 11 |
Genomic Location (Zv9):
Chromosome 18 (position 7138269)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 18 | 7715959 |
GRCz11 | 18 | 7674894 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCTGAGCCGAGACTACATGCATTGCCTCAGACAATGTCTGCTGAGCTGTA[T/G]GAGCCGCCTCGCCATGCCTCCCACATGGAGAGGCAGAAGAAAGCCCGCTC
Long Flanking Sequence:
AAACAAGCTCCACAGTTTGAAACAGCTGAAAAATATTATTCTCTGGTTTCTTCTATCTGTCTGTGCTTTCTTAAATATCAGCGTATTGAAATGCAGGACTTTGACACACAATAACGATCAGAATTTAAAGGAAAGTTTAGATGTGAATTATGTGAATTATTGTTATCATTCAAGCTCCACCAAACCCAAATACATTTCTATCTGTCTAAATGTGCAGGAGCCACCGAAGAGGATCGACTGTCTGCCCTGGCAGCGGAGCACAGATTTCCACGAAGCTCCTCCATGACGGACAGCCTGAGAGACAGCCATAGTATCCCTCCACCTCCTCAGATGGCTCCCCCACCTCCTCCATCGCTTTACTATCTAGATACTGGACCCCCTCCTTCATTCTGCCCACCCCCTCCCCCTGGCCGCCTTCACGACCCCAGCCGTTCCAGTTTTAAACCAGGCTCTGAGCCGAGACTACATGCATTGCCTCAGACAATGTCTGCTGAGCTGTA[T/G]GAGCCGCCTCGCCATGCCTCCCACATGGAGAGGCAGAAGAAAGCCCGCTCCATGATCATCCTGCAGGATTCCTCCCACCTCCCTGTGGAGCCTACTGACATCCCCAGGCCAGGTCCTGTCTCAACTCCGCCTGAGAGAATCAAGCGGAAAGGCAGAATCATAGATAACCCCTACGCCAATGTGGGTCAGTTCAGCGTGGGTATGTTCACGCCAACTCCCAGCAAGCCACAACGGAGGAAGAGCCCACTTGTTAAGCAACTGCAGGTGGAAGATGCTCAGGAAAGAGCCTCACTAGCATTGGCATCCATCCATGCGAGGGAGCACTCTCCTTCTGGGCGCCTTGCTGCCCAGCACACCAGCAGGTCTGACTTCTTTCATCAGCAGCAGCAGCTGTTGCATGAACGCAGTCAAGCTCATGCTGAAGGACTGTTGCAAGGAAAAGGACCTTTTGCTGCTGCCATTGCTGATGCTGTGAAGGACAGAGAACGTCGTCTGGAGGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa8619
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000092456 | Nonsense | 611 | 1467 | 11 | 12 |
ENSDART00000139188 | None | None | 185 | None | 4 |
ENSDART00000139505 | Nonsense | 497 | 1353 | 10 | 11 |
ENSDART00000092456 | Nonsense | 611 | 1467 | 11 | 12 |
ENSDART00000139188 | None | None | 185 | None | 4 |
ENSDART00000139505 | Nonsense | 497 | 1353 | 10 | 11 |
Genomic Location (Zv9):
Chromosome 18 (position 7138095)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 18 | 7715785 |
GRCz11 | 18 | 7674720 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACTCCRCCTGAGAGAATCAAGCGGAAAGGCAGAATCATAGATAACCCCTA[C/A]GCCAATGTGGGTCAGTTCAGCGTGGGTATGTTCACGCCAACTCCCAGCAA
Long Flanking Sequence:
CTCCACCAAACCCAAATACATTTCTATCTGTCTAAATGTGCAGGAGCCACCGAAGAGGATCGACTGTCTGCCCTGGCAGCGGAGCACAGATTTCCACGAAGCTCCTCCATGACGGACAGCCTGAGAGACAGCCATAGTATCCCTCCACCTCCTCAGATGGCTCCCCCACCTCCTCCATCGCTTTACTATCTAGATACTGGACCCCCTCCTTCATTCTGCCCACCCCCTCCCCCTGGCCGCCTTCACGACCCCAGCCGTTCCAGTTTTAAACCAGGCTCTGAGCCGAGACTACATGCATTGCCTCAGACAATGTCTGCTGAGCTGTATGAGCCGCCTCGCCATGCCTCCCACATGGAGAGGCAGAAGAAAGCCCGCTCCATGATCATCCTGCAGGATTCCTCCCACCTCCCTGTGGAGCCTACTGACATCCCCAGGCCAGGTCCTGTCTCAACTCCGCCTGAGAGAATCAAGCGGAAAGGCAGAATCATAGATAACCCCTA[C/A]GCCAATGTGGGTCAGTTCAGCGTGGGTATGTTCACGCCAACTCCCAGCAAGCCACAACGGAGGAAGAGCCCACTTGTTAAGCAACTGCAGGTGGAAGATGCTCAGGAAAGAGCCTCACTAGCATTGGCATCCATCCATGCGAGGGAGCACTCTCCTTCTGGGCGCCTTGCTGCCCAGCACACCAGCAGGTCTGACTTCTTTCATCAGCAGCAGCAGCTGTTGCATGAACGCAGTCAAGCTCATGCTGAAGGACTGTTGCAAGGAAAAGGACCTTTTGCTGCTGCCATTGCTGATGCTGTGAAGGACAGAGAACGTCGTCTGGAGGAGAGGCGGAAATCTACAGTCTTCCTATCAGTGGGAACTATGGAGGGCAGTTCAGCACCACCCCCCGAGGCCCCCTCGCTCACACCATCCCGTTCTGTTGATGAACGAATGCTCACTCGTGAACTCGGTCAATTGCCTCCTCCCGCCTTGGCGTTACGTCCCTCACCTGGGGGCAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa8445
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000092456 | Nonsense | 611 | 1467 | 11 | 12 |
ENSDART00000139188 | None | None | 185 | None | 4 |
ENSDART00000139505 | Nonsense | 497 | 1353 | 10 | 11 |
ENSDART00000092456 | Nonsense | 611 | 1467 | 11 | 12 |
ENSDART00000139188 | None | None | 185 | None | 4 |
ENSDART00000139505 | Nonsense | 497 | 1353 | 10 | 11 |
Genomic Location (Zv9):
Chromosome 18 (position 7138095)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 18 | 7715785 |
GRCz11 | 18 | 7674720 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ACTCCRCCTGAGAGAATCAAGCGGAAAGGCAGAATCATAGATAACCCCTA[C/A]GCCAATGTGGGTCAGTTCAGCGTGGGTATGTTCACGCCAACTCCCAGCAA
Long Flanking Sequence:
CTCCACCAAACCCAAATACATTTCTATCTGTCTAAATGTGCAGGAGCCACCGAAGAGGATCGACTGTCTGCCCTGGCAGCGGAGCACAGATTTCCACGAAGCTCCTCCATGACGGACAGCCTGAGAGACAGCCATAGTATCCCTCCACCTCCTCAGATGGCTCCCCCACCTCCTCCATCGCTTTACTATCTAGATACTGGACCCCCTCCTTCATTCTGCCCACCCCCTCCCCCTGGCCGCCTTCACGACCCCAGCCGTTCCAGTTTTAAACCAGGCTCTGAGCCGAGACTACATGCATTGCCTCAGACAATGTCTGCTGAGCTGTATGAGCCGCCTCGCCATGCCTCCCACATGGAGAGGCAGAAGAAAGCCCGCTCCATGATCATCCTGCAGGATTCCTCCCACCTCCCTGTGGAGCCTACTGACATCCCCAGGCCAGGTCCTGTCTCAACTCCGCCTGAGAGAATCAAGCGGAAAGGCAGAATCATAGATAACCCCTA[C/A]GCCAATGTGGGTCAGTTCAGCGTGGGTATGTTCACGCCAACTCCCAGCAAGCCACAACGGAGGAAGAGCCCACTTGTTAAGCAACTGCAGGTGGAAGATGCTCAGGAAAGAGCCTCACTAGCATTGGCATCCATCCATGCGAGGGAGCACTCTCCTTCTGGGCGCCTTGCTGCCCAGCACACCAGCAGGTCTGACTTCTTTCATCAGCAGCAGCAGCTGTTGCATGAACGCAGTCAAGCTCATGCTGAAGGACTGTTGCAAGGAAAAGGACCTTTTGCTGCTGCCATTGCTGATGCTGTGAAGGACAGAGAACGTCGTCTGGAGGAGAGGCGGAAATCTACAGTCTTCCTATCAGTGGGAACTATGGAGGGCAGTTCAGCACCACCCCCCGAGGCCCCCTCGCTCACACCATCCCGTTCTGTTGATGAACGAATGCTCACTCGTGAACTCGGTCAATTGCCTCCTCCCGCCTTGGCGTTACGTCCCTCACCTGGGGGCAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa25052
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:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000092456 | Nonsense | 952 | 1467 | 11 | 12 |
ENSDART00000139188 | None | None | 185 | None | 4 |
ENSDART00000139505 | Nonsense | 838 | 1353 | 10 | 11 |
Genomic Location (Zv9):
Chromosome 18 (position 7137074)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 18 | 7714764 |
GRCz11 | 18 | 7673699 |
KASP Assay ID:
554-7631.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCCTTCCCCTAAGGGGATATTGTCAGAAAGCCCCAAACCCATGTTGGCC[G/T]AAATTAAACGTGCAAAGTCCCCTGGTCCCGAAGCTCCTTCGATATCCACC
Long Flanking Sequence:
CAGGTAAGCCCCTGGACCCCAACTCTCCATTGGCACTTGCGCTGGCCGCAAGAGAACGGGCATTAACTTCCCAGAGTCAGTCCCCCTCAAGCAGCCCTGAGCCCAGAACTAAACATGAAACTGCTGGAGGGGTACTGTATATGGAGACCCAGACCAAAGAGGCTGAGCGGTCAGAGGGTGAGGGTGGGTTTGCTTCACCTCCCTTTTCTCCTGCAACAAAAAGAATTTACGAGACCTCCGTCCCCACTAGCAAGATTCAGTGGGGAAGTCCCATATCTACCAGGAAAGAGTTAGAAACAAGGACAGAAAGGAAGGAGGAGAGGAAAATTGAGGACAAAAAGAGTATGATCATCAGCATCATGGACACGTCTCAGCAGAAAACTGCTGGGCTTATCATGGTTCATGCAACGAGTAATGGGCAGGCTGTAGGGCCCAGTCCAGAGCGCAGTGTCCCTTCCCCTAAGGGGATATTGTCAGAAAGCCCCAAACCCATGTTGGCC[G/T]AAATTAAACGTGCAAAGTCCCCTGGTCCCGAAGCTCCTTCGATATCCACCCCACCACCCACCGCAGCTCCAACTTCCCAGCCCCCTCCCAGCCCATCCTCAGACAAAACCTTGGCTCAGGGTAGTTCTGAGGAGGATGCCGAACCCTATACAGTCACCTTGCCACCTGCCATGCTATCCTCCAGTGACGAGGAGACAAGAGAGGAGCTTCGTAAAATCGGTGTGGTTCCTCCGCCGGACGAATTTTCAAATGGCCTTCTTGCTAAGACTCCTGAAACTGCAGTACCTCCTGCTCCCACGTTGACGCAGACAACTCCTTCTACCTTGCCCTCAGCTCCACCCGCTCCACCACCCCCTGCTCCTTCAGCAGCGGTCGCTGCAGCAGCACAGGTCCCTGCTAGCAGTGGCCTGCAAGCAGCCTCAGGGAAGCCATCTGAGTCCCACCTGGGCCCAGAGTCTGCTGCTGACTCCGGGGTGGAAGAGGTAGACACTCGTAGCTCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16870
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 |
---|---|---|---|---|---|
ENSDART00000092456 | Nonsense | 1189 | 1467 | 11 | 12 |
ENSDART00000139188 | None | None | 185 | None | 4 |
ENSDART00000139505 | Nonsense | 1075 | 1353 | 10 | 11 |
Genomic Location (Zv9):
Chromosome 18 (position 7136363)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 18 | 7714053 |
GRCz11 | 18 | 7672988 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGTCCCAGCTCAGCAAGGGCCCGGTGACGTTCAGGGACCCCCTGCTCAAG[C/T]AGTCATCTGATAGCGAACTGCTCTCAMAGCAGCATGCGGCTGCACTGGCT
Long Flanking Sequence:
GTAAAATCGGTGTGGTTCCTCCGCCGGACGAATTTTCAAATGGCCTTCTTGCTAAGACTCCTGAAACTGCAGTACCTCCTGCTCCCACGTTGACGCAGACAACTCCTTCTACCTTGCCCTCAGCTCCACCCGCTCCACCACCCCCTGCTCCTTCAGCAGCGGTCGCTGCAGCAGCACAGGTCCCTGCTAGCAGTGGCCTGCAAGCAGCCTCAGGGAAGCCATCTGAGTCCCACCTGGGCCCAGAGTCTGCTGCTGACTCCGGGGTGGAAGAGGTAGACACTCGTAGCTCCAGCGATCACCACCTGGAGACCACGAGCACCATCTCTACTGTCTCCAGCATGTCCACACTGTCCTCGGAAAGCGGCGAGCCAACAGACACTTACACCACCCACGCAGATGGCCAGACGTTCATTCTTGATAAGCCGCCAGTGCCTCCAAAGCCAAAGCTCAAGTCCCAGCTCAGCAAGGGCCCGGTGACGTTCAGGGACCCCCTGCTCAAG[C/T]AGTCATCTGATAGCGAACTGCTCTCACAGCAGCATGCGGCTGCACTGGCTGCTGCTGCGGGAGCCTCAGGCCCGGCCAGACCCCGCTACCTCTTCCAGAGACGCTCTAAGTTGTGGGGGGACACAGTAGAACCCCGTCCGCTTTCGGGGGCAGAGGAAGGCAAGCCCACTGTGATCAGCGAGCTCAGCTCCCGGCTGCAGCAGCTGAACAAGGACACACGCTCACTTGGGGAAGAGCCACTTGGAGCTTCACTTGACCCCGGACGAAAATCCCCCGTGGTCGGTCCAAGGTAAAGTGCGAATCTTACAGGAGAGCATTCAATCAGCAATTTTTCAAAATTTCTATGAAAAATGCTGATTTTGTCTGTTTATGATCCAAATGCAGTTTTCTATTGGTTAAATGGCACTGAGAATATTTACCCTGTGCAGTTATTTTTATCAAATATGATTAACAGTGATTAATTGAAACTAATAAATCTGTAATCGTTAATATGGAATAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43043
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000092456 | Essential Splice Site | 1285 | 1467 | 11 | 12 |
ENSDART00000139188 | None | None | 185 | None | 4 |
ENSDART00000139505 | Essential Splice Site | 1171 | 1353 | 10 | 11 |
Genomic Location (Zv9):
Chromosome 18 (position 7136073)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 18 | 7713763 |
GRCz11 | 18 | 7672698 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTGGAGCTTCACTTGACCCCGGACGAAAATCCCCCGTGGTCGGTCCAAG[G/A]TAAAGTGCGAATCTTACAGGAGAGCATTCAATCAGCAATTTTTCAAAATT
Long Flanking Sequence:
AGCGATCACCACCTGGAGACCACGAGCACCATCTCTACTGTCTCCAGCATGTCCACACTGTCCTCGGAAAGCGGCGAGCCAACAGACACTTACACCACCCACGCAGATGGCCAGACGTTCATTCTTGATAAGCCGCCAGTGCCTCCAAAGCCAAAGCTCAAGTCCCAGCTCAGCAAGGGCCCGGTGACGTTCAGGGACCCCCTGCTCAAGCAGTCATCTGATAGCGAACTGCTCTCACAGCAGCATGCGGCTGCACTGGCTGCTGCTGCGGGAGCCTCAGGCCCGGCCAGACCCCGCTACCTCTTCCAGAGACGCTCTAAGTTGTGGGGGGACACAGTAGAACCCCGTCCGCTTTCGGGGGCAGAGGAAGGCAAGCCCACTGTGATCAGCGAGCTCAGCTCCCGGCTGCAGCAGCTGAACAAGGACACACGCTCACTTGGGGAAGAGCCACTTGGAGCTTCACTTGACCCCGGACGAAAATCCCCCGTGGTCGGTCCAAG[G/A]TAAAGTGCGAATCTTACAGGAGAGCATTCAATCAGCAATTTTTCAAAATTTCTATGAAAAATGCTGATTTTGTCTGTTTATGATCCAAATGCAGTTTTCTATTGGTTAAATGGCACTGAGAATATTTACCCTGTGCAGTTATTTTTATCAAATATGATTAACAGTGATTAATTGAAACTAATAAATCTGTAATCGTTAATATGGAATAAAAAGAACATAAACAAGATCCATTAAACATTCTCATAAACATCATAAAGAATGCCAAAGAATGTAATGCAGACATGATTAAATGGGCAGACTTTTATCTTAAATAAAGCAAATTAACATCTTTAACCTTTGGAACGTGTTTAGAAGAAATGAAGTGGTAATGTCTAACATGCTTTCTTCATTGAGATGTTTGGAGCCCAAGAACAATCTCAGCATTCGATTTCCAATGGTAAGTAACATAGGATACCCTGATTTTACCAACCAACCATAGACTATGCGGATGCAAAAATACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23228
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 |
---|---|---|---|---|---|
ENSDART00000092456 | Nonsense | 1407 | 1467 | 12 | 12 |
ENSDART00000139188 | None | None | 185 | None | 4 |
ENSDART00000139505 | Nonsense | 1293 | 1353 | 11 | 11 |
Genomic Location (Zv9):
Chromosome 18 (position 7127360)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 18 | 7705050 |
GRCz11 | 18 | 7663985 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCACCCTGCGGCCGTTCCACCAGAAACCCCTTCATCTGTGGAACAAGTA[C/A]GACGTGGGAGACTGGCTGGCCAGCATTAACCTGGCCGAACACCGGGATCG
Long Flanking Sequence:
GTAGACTCCTAACATAGCTGATGCTATTACTAAAATTGGGTTACAGAGAGACCATTTCTCTAAAAACATTTTAATTTGACTTTCACTCTCTGCCCCCTTCCATTTCTCTTTCTCCCCATGTTTTCAACTTTTAGACTCTTCAGCAGTTTGGGAGAGCTCCATACTATCTCTCAGAGAGGCTACGGCACCACCTACACCATCAGACCAGGCAGCCGCTACCCAGTAACCCGCAGGACTCCCAGTCCCGGATCCCCGGACCGCTCAGATCCTCTAGGACCCATCCGGGGTTTCGGCCTGGCCACGTCACCGATCACACCGCCCACCATCCTTAAGTCGTCCAGCCTCAGTCTCCCTCACGAACCGAAAGAAGTGCGTTTCGTCATGAGGAGCTCCAGTGCACGGAGTCGCTCACCCTCGCCGGCCCCTTCGCCAGGCATGACCTCCCCGCTTCTCACCCTGCGGCCGTTCCACCAGAAACCCCTTCATCTGTGGAACAAGTA[C/A]GACGTGGGAGACTGGCTGGCCAGCATTAACCTGGCCGAACACCGGGATCGTTTCCAGGAGCACGAGATCGAGGGCTCCCATCTGCCTGCTCTGACCAAGGAGGACTACGCTGAGCTGGGTGTGACACGTGTCGGTCACCGCATGAACATTGAGCGCGCCCTTAAACAGCTGCTGGAGAGTTGACCACGCGCCTCCCTCTGCCTGTAGCTAGTCTCAACACGGTTTACTTTTAAATTCCTACTTTATTTCATTTGGGGGGGGGGTTCTTGTGATTTCAGAGCTTTCAAGAAACACTCTATGTTTTTTTTTTGGAAGTGACCTGAAGTTAACAGTTGGGGTTTACCATTTTTGAAGCCTTTTAGCTGATCTCTGGGTCTGGCAGGAGCACTTTTAGTTTAGCTTAGCATAGATCATTGAATTGGATTAGACCATTACCATCTTACTCAATAAAAAAAACTGAAAATTATTTTTAATAAGCTTAATATTTTAAGCTTCTCGCT
Associated Phenotype:
Not determined