ZMP
si:dkey-22f5.10
Ensembl ID:
ZFIN ID:
Human Orthologue:
PHKA1
Human Description:
phosphorylase kinase, alpha 1 (muscle) [Source:HGNC Symbol;Acc:8925]
Mouse Orthologue:
Phka1
Mouse Description:
phosphorylase kinase alpha 1 Gene [Source:MGI Symbol;Acc:MGI:97576]
Alleles
There are 11 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa43674 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa37345 | Essential Splice Site | Available for shipment | Available now |
sa43673 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa31061 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa29628 | Essential Splice Site, Missense | Mutation detected in F1 DNA | Not yet available |
sa23976 | Nonsense | Available for shipment | Available now |
sa23975 | Essential Splice Site | Available for shipment | Available now |
sa11407 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa43674
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 |
---|---|---|---|---|---|
ENSDART00000048211 | Nonsense | 173 | 1230 | 5 | 35 |
ENSDART00000140003 | Nonsense | 173 | 1173 | 5 | 32 |
The following transcripts of ENSDARG00000030749 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 29397911)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 30598162 |
GRCz11 | 21 | 30634857 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTATACTCGTGATGAAGTCGATGTTGTCCAGAATCTGATTTTTTACATC[G/T]AATCTGCATACAAAGTAGCGGTAAGCACCATTAAGCTGTTCTGATATGTA
Long Flanking Sequence:
ACAGTTTCTTCTCTCAGGCAATTCATCACATAAACCAGTCCCAGCACCATTATGTAATAACCGAGGGGGCATTTGAATCTCATTGGGGGGCACTAGACCTGATGATTGATTTTGGTCTCACTTGTTAATTTTTTGTATATTTGTATTTACTACTTCTATTTTTAAAATATATTTATTATCTGTTTTTTTTTTTTGTCCTGTCTCTGTAATTCTGTTGCACAAATGTCTTGTATGTGTGCACACACCTGGCAAAAAAAAGAAAGAAAAGGTCTTTCTGATTTTGATTCTGAAAAAAAAGTGATGTTGCAAACTGCAGTACACTTGTTTGTCACCGGTGGTGCTAATAACAACAATTCCTGAATTCTACATGAGTCCAATTAAACCAATTAATTTTTGTGTCCCATAAAATCATAGATTTTCACCACTTTTTATTTGCAGGGCTGAATATCGTCTATACTCGTGATGAAGTCGATGTTGTCCAGAATCTGATTTTTTACATC[G/T]AATCTGCATACAAAGTAGCGGTAAGCACCATTAAGCTGTTCTGATATGTATGGATTTTACATACTTTCCATGGATATTAAGGCTGGAAATGACCCTCAGGATTTTGGAATGTGGGAACGAGGAGACAAGACCAACAAAGGGATCCCTGAGATAAATGCCAGCTCTATCGGGATGGCAAAGGTAAAATGATTTCACATGTCTAACAAGTGTCAAATAATGATCTCTTCATGATACAATAACATGACCTCTCGCTGCATGTTTATTTAGGCAGCTTTGGAGGCCTTGGACGGACTGAACCTGTTTGGTGCCAAAGGAGGCCCAGAGTCCGTTGTTCACGCTTTAGCTGACGACATTCAGCACTGCAATGTAATAAACTTACCTTACGGGGATCACATAAATGTTTCCTGAAAGTAACAAATTGCTTCTTCTCTGTTCAAATGTTTTTACATTAGTCTATTCTCAACTCCATGCTGCCGAGGGCATCAACATCTAAAGAGGTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37345
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 |
---|---|---|---|---|---|
ENSDART00000048211 | Essential Splice Site | 206 | 1230 | 6 | 35 |
ENSDART00000140003 | Essential Splice Site | 206 | 1173 | 6 | 32 |
The following transcripts of ENSDARG00000030749 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 29397730)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 30597981 |
GRCz11 | 21 | 30634676 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCAACAAAGGGATCCCTGAGATAAATGCCAGCTCTATCGGGATGGCAAAG[G/A]TAAAATGATTTCACATGTCTAACAAGTGTCAAATAATGATCTCTTCATGA
Long Flanking Sequence:
GTTTTTTTTTTTTGTCCTGTCTCTGTAATTCTGTTGCACAAATGTCTTGTATGTGTGCACACACCTGGCAAAAAAAAGAAAGAAAAGGTCTTTCTGATTTTGATTCTGAAAAAAAAGTGATGTTGCAAACTGCAGTACACTTGTTTGTCACCGGTGGTGCTAATAACAACAATTCCTGAATTCTACATGAGTCCAATTAAACCAATTAATTTTTGTGTCCCATAAAATCATAGATTTTCACCACTTTTTATTTGCAGGGCTGAATATCGTCTATACTCGTGATGAAGTCGATGTTGTCCAGAATCTGATTTTTTACATCGAATCTGCATACAAAGTAGCGGTAAGCACCATTAAGCTGTTCTGATATGTATGGATTTTACATACTTTCCATGGATATTAAGGCTGGAAATGACCCTCAGGATTTTGGAATGTGGGAACGAGGAGACAAGACCAACAAAGGGATCCCTGAGATAAATGCCAGCTCTATCGGGATGGCAAAG[G/A]TAAAATGATTTCACATGTCTAACAAGTGTCAAATAATGATCTCTTCATGATACAATAACATGACCTCTCGCTGCATGTTTATTTAGGCAGCTTTGGAGGCCTTGGACGGACTGAACCTGTTTGGTGCCAAAGGAGGCCCAGAGTCCGTTGTTCACGCTTTAGCTGACGACATTCAGCACTGCAATGTAATAAACTTACCTTACGGGGATCACATAAATGTTTCCTGAAAGTAACAAATTGCTTCTTCTCTGTTCAAATGTTTTTACATTAGTCTATTCTCAACTCCATGCTGCCGAGGGCATCAACATCTAAAGAGGTGGACGCTGGAGTTCTCTCCATCATCTCTTATCCAGCGTTCGCAGTTGAAGACATTGATGTTGTTAATATCACCAAAGAAGAAATCATTTCAAAGCTTCAGGTGAATGCTGATCAGATATAGTTATCAGTTAGAGTTATCGTCTTTGATTTTGCTTTAGTTTTGTTTTATGCACCGACTATTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa43673
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 |
---|---|---|---|---|---|
ENSDART00000048211 | Essential Splice Site | 207 | 1230 | 7 | 35 |
ENSDART00000140003 | Essential Splice Site | 207 | 1173 | 7 | 32 |
ENSDART00000048211 | Essential Splice Site | 207 | 1230 | 7 | 35 |
ENSDART00000140003 | Essential Splice Site | 207 | 1173 | 7 | 32 |
The following transcripts of ENSDARG00000030749 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 29397645)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 30597896 |
GRCz11 | 21 | 30634591 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATGATCTCTTCATGATACAATAACATGACCTCTCGCTGCATGTTTATTT[A/T]GGCAGCTTTGGAGGCCTTGGACGGACTGAACCTGTTTGGTGCCAAAGGAG
Long Flanking Sequence:
AGGTCTTTCTGATTTTGATTCTGAAAAAAAAGTGATGTTGCAAACTGCAGTACACTTGTTTGTCACCGGTGGTGCTAATAACAACAATTCCTGAATTCTACATGAGTCCAATTAAACCAATTAATTTTTGTGTCCCATAAAATCATAGATTTTCACCACTTTTTATTTGCAGGGCTGAATATCGTCTATACTCGTGATGAAGTCGATGTTGTCCAGAATCTGATTTTTTACATCGAATCTGCATACAAAGTAGCGGTAAGCACCATTAAGCTGTTCTGATATGTATGGATTTTACATACTTTCCATGGATATTAAGGCTGGAAATGACCCTCAGGATTTTGGAATGTGGGAACGAGGAGACAAGACCAACAAAGGGATCCCTGAGATAAATGCCAGCTCTATCGGGATGGCAAAGGTAAAATGATTTCACATGTCTAACAAGTGTCAAATAATGATCTCTTCATGATACAATAACATGACCTCTCGCTGCATGTTTATTT[A/T]GGCAGCTTTGGAGGCCTTGGACGGACTGAACCTGTTTGGTGCCAAAGGAGGCCCAGAGTCCGTTGTTCACGCTTTAGCTGACGACATTCAGCACTGCAATGTAATAAACTTACCTTACGGGGATCACATAAATGTTTCCTGAAAGTAACAAATTGCTTCTTCTCTGTTCAAATGTTTTTACATTAGTCTATTCTCAACTCCATGCTGCCGAGGGCATCAACATCTAAAGAGGTGGACGCTGGAGTTCTCTCCATCATCTCTTATCCAGCGTTCGCAGTTGAAGACATTGATGTTGTTAATATCACCAAAGAAGAAATCATTTCAAAGCTTCAGGTGAATGCTGATCAGATATAGTTATCAGTTAGAGTTATCGTCTTTGATTTTGCTTTAGTTTTGTTTTATGCACCGACTATTGAGATCTGTGTGTGGCATTTAAACATTTTGGGGGATTTTGGTCGCATAGAATTTCTACAGCAGGGATTCCCAAACTTTTGAGCCTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31061
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 |
---|---|---|---|---|---|
ENSDART00000048211 | Essential Splice Site | 207 | 1230 | 7 | 35 |
ENSDART00000140003 | Essential Splice Site | 207 | 1173 | 7 | 32 |
ENSDART00000048211 | Essential Splice Site | 207 | 1230 | 7 | 35 |
ENSDART00000140003 | Essential Splice Site | 207 | 1173 | 7 | 32 |
The following transcripts of ENSDARG00000030749 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 29397645)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 30597896 |
GRCz11 | 21 | 30634591 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATGATCTCTTCATGATACAATAACATGACCTCTCGCTGCATGTTTATTT[A/T]GGCAGCTTTGGAGGCCTTGGACGGACTGAACCTGTTTGGTGCCAAAGGAG
Long Flanking Sequence:
AGGTCTTTCTGATTTTGATTCTGAAAAAAAAGTGATGTTGCAAACTGCAGTACACTTGTTTGTCACCGGTGGTGCTAATAACAACAATTCCTGAATTCTACATGAGTCCAATTAAACCAATTAATTTTTGTGTCCCATAAAATCATAGATTTTCACCACTTTTTATTTGCAGGGCTGAATATCGTCTATACTCGTGATGAAGTCGATGTTGTCCAGAATCTGATTTTTTACATCGAATCTGCATACAAAGTAGCGGTAAGCACCATTAAGCTGTTCTGATATGTATGGATTTTACATACTTTCCATGGATATTAAGGCTGGAAATGACCCTCAGGATTTTGGAATGTGGGAACGAGGAGACAAGACCAACAAAGGGATCCCTGAGATAAATGCCAGCTCTATCGGGATGGCAAAGGTAAAATGATTTCACATGTCTAACAAGTGTCAAATAATGATCTCTTCATGATACAATAACATGACCTCTCGCTGCATGTTTATTT[A/T]GGCAGCTTTGGAGGCCTTGGACGGACTGAACCTGTTTGGTGCCAAAGGAGGCCCAGAGTCCGTTGTTCACGCTTTAGCTGACGACATTCAGCACTGCAATGTAATAAACTTACCTTACGGGGATCACATAAATGTTTCCTGAAAGTAACAAATTGCTTCTTCTCTGTTCAAATGTTTTTACATTAGTCTATTCTCAACTCCATGCTGCCGAGGGCATCAACATCTAAAGAGGTGGACGCTGGAGTTCTCTCCATCATCTCTTATCCAGCGTTCGCAGTTGAAGACATTGATGTTGTTAATATCACCAAAGAAGAAATCATTTCAAAGCTTCAGGTGAATGCTGATCAGATATAGTTATCAGTTAGAGTTATCGTCTTTGATTTTGCTTTAGTTTTGTTTTATGCACCGACTATTGAGATCTGTGTGTGGCATTTAAACATTTTGGGGGATTTTGGTCGCATAGAATTTCTACAGCAGGGATTCCCAAACTTTTGAGCCTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa29628
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:
Essential Splice Site, Missense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000048211 | Missense | 488 | 1230 | 15 | 35 |
ENSDART00000140003 | Essential Splice Site | 487 | 1173 | 15 | 32 |
The following transcripts of ENSDARG00000030749 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 29388814)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 30589065 |
GRCz11 | 21 | 30625760 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAAAAGCATTTACAAACTGAACAAATTGTTGTCAATTTGTTTTTTTTTCA[G/T]GGCGAAACCAAAGGCTGGGACTGACTGGACGACCGTATAGGCGAATTGGT
Long Flanking Sequence:
TCAGCAGCTAATCAGCCGGAATCAGCTGAGGTGACGAGACAGCGAGCAGCAAGACTTAGCTGTCTCTCAAGTGGCCACGCCCTTAATTATGCAGACTTAATAAAACTTAATAAAAATGAAACGGATGAGTGATAAAAAAATTCACCCCCTCACAGTTGTCATGAATAGTAATATCAGCTATATGAACCAAAACCAGCTATTGTTCCAGGCTGTAAACAAGTTTTTATCAGTTGTAAAATTGGCCAGTTTACTATTGCAGTCAGAAAATATCTAAATTCACTGGAGCCAGCCCTCAAAGGCGAGTCGATGAATTGCAGTTTTAGTTAATTCAACAGTCCAGGTTTTTTTTTTTGTATGAAAGTGTCATTTTGCATATAAAATTATGTTATACAACAGAAAAATATTCAGACTCATAGCAAGTTACTACACGTAACAACAAAAAACAGCGATAAAAAGCATTTACAAACTGAACAAATTGTTGTCAATTTGTTTTTTTTTCA[G/T]GGCGAAACCAAAGGCTGGGACTGACTGGACGACCGTATAGGCGAATTGGTGTGTTGGGAACGTCTAAATTCTACATTATTCGCGACACCATCTTTACCTTCACACCTCAAGTATGTAAACATGAAAATTTGAATTTCTTGATAATTATTTTAATAACCCTGAACCACAAAACCAATTATAAATGTAAATTATTTGATATTGACATTTATACATCACCTGAAAGCTAAACAAGCTTTCCATTAATGTTAAAAAACAACAACATTTGATTCAGCTACTGGAATCTGAGGCTTCAAAAATAATCTAAATACTGAGAAAATCACATTTAAAAGTGTCTAAATGAAATGCTTAGTAATGCATCCTACTAGTCAAAATTTTTGTTTTGATATATTTATAATTGGGAATATATAAGATATATGCATGAAATGTGATCTTTAATTTAATATTTTTAATAATAAAGAAAAAAATCAATAATTCTGACCCGCACAATGTATTTTTGACAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23976
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 |
---|---|---|---|---|---|
ENSDART00000048211 | Nonsense | 577 | 1230 | 17 | 35 |
ENSDART00000140003 | Nonsense | 576 | 1173 | 17 | 32 |
The following transcripts of ENSDARG00000030749 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 29385342)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 30585593 |
GRCz11 | 21 | 30622288 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCATTCTGAGAGACTCATTTGGTTTTTGTCCTTTGCAGGCGATGATTAC[A/T]AACAAGTTAATCCTACGGTTTTGGCAACCCTCAAAAAATTACAAGATGGT
Long Flanking Sequence:
GAGGTGATGTCGAAAAAAATCTTTGATCCATTTAGGTGGAAGTAGCGAACTGCAAGCTTTGGATGTTTATATCTTTTTAAACAAATTTTGTCACTGTTTTGGAGCACACTAGCTTACATATTTTACTTAAGATTAAACATACTGATACTAACATCTAAAATACTTTATTTTAATTTCACTGGGACTTTAAGTACATTTTTATATCAAAAATGGTTTGACAATCTCAGCTTATCTACTGGTTTTGATCCTGATTCAATGTCCAGTTTGTTGACCATCAAGAGTTTTATCTGGCCCTGGACAATCACATGATCGTGGAGATGCTGCGTGTCGACCTCTCCTACCTGTGCTCTCACTGGAGGATGACAGGACGACCCACTGTCACCTTCCCCATTTCACACGGCATGCTCAGTGAGTGACCTCAACACACCGGACATATGCAGGAAACAGCTGTTCATTCTGAGAGACTCATTTGGTTTTTGTCCTTTGCAGGCGATGATTAC[A/T]AACAAGTTAATCCTACGGTTTTGGCAACCCTCAAAAAATTACAAGATGGTTATTTTGGAGGAGCAAGGTAATGTATTTAAACAGATCAGAACAAATCTGATCATTATCACTCACCCGAAGCAGCCTGAAGACCAATCCTTTTTTACAATTCAAGGGTTAAGACTGGAAAACTGACTGATTTTCTTGACACCTCCTGTTGTGCTCATCTTACTTTTATGGACTGTGGTGAGTGAGCCACCAGAAGCACGTCTGATGCTCATTTTTAGAGACTAATACCACAGCCGCTAGTTCATCCAAAATTGAGAACAATTACTTTCTTTCTTCTGTGAGCACAAAAGGTTTTCTAATTTATTTCTTTTTTTGAAAAATTGCCACTCGCCGCTTTTTGTCTTCATGATGAAAGCCAGCTGAGTCCACGATTATTTAAAAATATCCTTTTGTGTTCCAAGAAAGAAAGAAAAGTACAGGTTTTTGGAAAGAAATCATGGGGAACAAATGAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa23975
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 |
---|---|---|---|---|---|
ENSDART00000048211 | Essential Splice Site | 738 | 1230 | 23 | 35 |
ENSDART00000140003 | Essential Splice Site | 701 | 1173 | 20 | 32 |
The following transcripts of ENSDARG00000030749 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 29379865)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 30580116 |
GRCz11 | 21 | 30616811 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTTCCATTCTCCGGCACCAGACCTTAATCTGCTGGTTGACAAAGAGAAG[G/A]TAGATAACATGAAATTAGCGGATTTTGCTGTGATTGTTGGAGTATTAATT
Long Flanking Sequence:
TGTGTGTTTGTGTGTGTGTGTGTGTTGTTTGTGTGTGTGTTTGTGTGGTTGTATGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGCAGAAGTGGATGACCTGGCTGTTTATCTGGACCAGCTGCTGGCAGTTCCTCAACAGCATCCCATTAGTGCCACTAAAGGAGGCCTGAGCCGCTTCAGGGCAGCAGCCAGAAAGGTTCGAGAGATGGTGTCTCTAGTGCACAAAGCCAGAGAGCTCAATATACACAGTGAGTTCACTACTTGGCCTGCTGTCATTTTTCATGCTATGCCGTGAATATAATCATCATTTTATTTTGACCTCTTCACAGATGTGCATATGTACCTTCCAACTAAACTCTTCCATTCTCCGGCACCAGACCTTAATCTGCTGGTTGACAAAGAGAAG[G/A]TAGATAACATGAAATTAGCGGATTTTGCTGTGATTGTTGGAGTATTAATTAGAATAATTGCTTGGCTTTCTTTGCTTTCTATTAAATGTGTGCTTGGTTTTCTTTCATTCAATTAGGATTATATGTATTTATACTGTAACAGTTTTTACTGACTATGCACAAACCTTTAATCAAGACACCTGGAAATTTAGTGGTTGTTCTGCGATTATTCTGTACTTGTCAAAAGTCACATTAGGATTTTTTATTTTTACTTTTTTTGTTATTTGAGTTCTACTTTTTGATGTGAATTGAAAATAATTAAAAAATATATATATTTTCATAATAATAATAATTACTTATATTTATATATCACTTTGGTCCAGACACTCAAATTGCTTTACCCATTTTGGGGGGGATCTCCTTGTCACAATAACCAGCAATCTAATGCCTACAGATCGCTGGTAAATTCACAGATCTGCTGGTATATGGACTACAAGAATCAGTCATGCACCACACACTCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11407
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 |
---|---|---|---|---|---|
ENSDART00000048211 | Essential Splice Site | 892 | 1230 | 27 | 35 |
ENSDART00000140003 | Essential Splice Site | 854 | 1173 | 24 | 32 |
The following transcripts of ENSDARG00000030749 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 21 (position 29374849)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 21 | 30575100 |
GRCz11 | 21 | 30611795 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GATCGATGAKGCCAGTGAGAACAACCTCACCATCGCCATYCTCACTCAGG[T/C]TAGAGCTCAGGCCAGATCCACATCTCAGTCTTAWRTGTTTTAATTTCACT
Long Flanking Sequence:
TGGTTTCAGGATCATCTTTAAAGTTTTTTTAAAGTTCTCCAGAGTTTTTAACTTGATTTTGTCTTTTGGTAGTTGATTGGATCATTAAATCATTGTGTTTTGCCATTGGGGGATCTCATATGATTGACAGGTCGTCGCCAGAAAGTAGAAGTCATTTGCAAATGATTACAGAGGCATATGAATTAAAAGGAAAAAAAATGTATAATAAATACTGCAATCATTTTGATTTCCTGCTGATTTTAAATGAAATTCTATTTTTCCATTAACAGGCTTGCTCATACTTATTAATCCATCAGAAACATCTAACAGTCGGCCTTCCTCCTGAACCAAGAGAGAAAACTATTTCAGCGTAAATACACACACAAACTGGATGTTCACATTCACTTTACATGTGCATACTACAGTGTTTGTCTCCTTCAGGCCGATGCCTCCAGATAAGCTGGCGAGGCTGATCGATGATGCCAGTGAGAACAACCTCACCATCGCCATCCTCACTCAGG[T/C]TAGAGCTCAGGCCAGATCCACATCTCAGTCTTATGTGTTTTAATTTCACTGACTCTCCCGTATGCTCTCGGCAGGAGATCATGGTGTTTCTGGGTATGATCATTCGCACCCAGCCCAAGATCTTTAGCGAAATGTTTCGTCTGCGCATTGGTCTCATTCTTCAGGTCATGGTGACTGAACTGGCCCAGTCTCTCCAATGTTCAGGTATCTCTTAGTTCCTGTTTCAATGTACTATTTTCTCTTACATTACAGTGTGTCTTGTTAAATCTTACTACAGAGCAAAAAATAACGATCATTGATTTTTACATTGATATACTTCCACTAAATTGTCATTCGGTGAAGAAGTGGTTATATAGGTAAAACTTCTTTTCCGGCATATTTTAATCAAGAATCATTTAAAAAACAGGGAGGGTTGGGAAATGCGAGGGATGATGCTTAGAAGTGGGTAGAAAAGCTTAGGTTTGATTTGAGAGTTCTGCAGGTTTTCTTTTTGTTGTTGT
Associated Phenotype:
Not determined