ZMP
sort1b
Ensembl ID:
ZFIN ID:
Description:
sortilin 1b [Source:RefSeq peptide;Acc:NP_001119937]
Human Orthologue:
SORT1
Human Description:
sortilin 1 [Source:HGNC Symbol;Acc:11186]
Mouse Orthologue:
Sort1
Mouse Description:
sortilin 1 Gene [Source:MGI Symbol;Acc:MGI:1338015]
Alleles
There are 10 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa15116 | Essential Splice Site, Missense | Available for shipment | Available now |
sa21294 | Nonsense | Available for shipment | Available now |
sa31655 | Essential Splice Site | Available for shipment | Available now |
sa15853 | Essential Splice Site | Available for shipment | Available now |
sa14450 | Essential Splice Site | Available for shipment | Available now |
sa21293 | Nonsense | Available for shipment | Available now |
sa14735 | Essential Splice Site | Available for shipment | Available now |
sa15785 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa15116
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:
Essential Splice Site, Missense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000078710 | Essential Splice Site | 10 | 817 | 2 | 21 |
ENSDART00000134190 | Missense | 10 | 828 | 1 | 20 |
The following transcripts of ENSDARG00000056252 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 25927140)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 25055058 |
GRCz11 | 8 | 25074197 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGGAAATATTCCGAAGACGAAAAATGAGAGGCCTAGGACACTTTATTGCA[C/T]TTTTATTTTTTCCAATGGCATTTGGTGTGGATTTCCATGTGGATCCCGGA
Long Flanking Sequence:
GCACAATGCTGTCCGCTGAAGTGTGACGTGTCACACTAACTTGTCCACAAGGACTGAGGGAATCACAGAAACATGAATCCGCCTCCACTGACCAATCAGAAAAACGCCCCAGCCGCAGCAGCCAATCATGCAGGCTCTGCAAGGTGCATTCTATTCATCGTTATTTTTTTCGGGTTGCATGTATTTGAAGTGTTTTACACGAAAAACAGTCAAGGATACAATCCATTAGAGCAACTTGTCTGGTCTATGATTTTTCTGCTATTTTTGGAAATTGTCTAGATGAAGTAAAAAGGGCGTTGATTGTGCTCTCTGAGGAGGCAGCACTAATAATATAAGCAGCAGGGACCTTTCGCTGTCACAGGCAGTCTGTTTATGTTGAGAACGTCAGCAACCGCTCAGGAGCGAGACACTGAGGAATTAATGCGCATTTAACCAGCAACACAGTCCTGTTGGAAATATTCCGAAGACGAAAAATGAGAGGCCTAGGACACTTTATTGCA[C/T]TTTTATTTTTTCCAATGGCATTTGGTGTGGATTTCCATGTGGATCCCGGATCCTCTAACGCGCACCCGCTGTATGCGAAGTCTCCGGTATCCGTCAGAAGTCTGCTCGGGACGGGATCGGATGCAGATTTTTCTCGGGTTCACCATCGCATCCATAAAAGAAGCACCGACCGTGGCTCAGACTCATGTAATGGGTTAACGTTAGAAGGATATGAGAGCAAGTTAACTAGCAATACGCACAACGTAAGTTCACTTGCACCAATGAGCGCAACCCTAAAACCTAGAGGGTCTTTCTCTAACTTAGACAGCACCCTAACTTGACATTTTTGCGAGATAACTGATAAATCTATATATGCATTCCTTGAAAATAGAACAAGTTATTTGATTTACGAACGGCTATTAACTCTAAACAGTAAACACTTATAGTGAGTAATTCAATATTGACAAGCTAGATTGTATAAATAGCATACAATCAATCACTATACTGGGCTGTATTAACTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21294
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 |
---|---|---|---|---|---|
ENSDART00000078710 | Nonsense | 26 | 817 | 2 | 21 |
ENSDART00000134190 | Nonsense | 26 | 828 | 1 | 20 |
The following transcripts of ENSDARG00000056252 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 25927092)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 25055010 |
GRCz11 | 8 | 25074149 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACTTTTATTTTTTCCAATGGCATTTGGTGTGGATTTCCATGTGGATCCC[G/T]GATCCTCTAACGCGCACCCGCTGTATGCGAAGTCTCCGGTATCCGTCAGA
Long Flanking Sequence:
AAGGACTGAGGGAATCACAGAAACATGAATCCGCCTCCACTGACCAATCAGAAAAACGCCCCAGCCGCAGCAGCCAATCATGCAGGCTCTGCAAGGTGCATTCTATTCATCGTTATTTTTTTCGGGTTGCATGTATTTGAAGTGTTTTACACGAAAAACAGTCAAGGATACAATCCATTAGAGCAACTTGTCTGGTCTATGATTTTTCTGCTATTTTTGGAAATTGTCTAGATGAAGTAAAAAGGGCGTTGATTGTGCTCTCTGAGGAGGCAGCACTAATAATATAAGCAGCAGGGACCTTTCGCTGTCACAGGCAGTCTGTTTATGTTGAGAACGTCAGCAACCGCTCAGGAGCGAGACACTGAGGAATTAATGCGCATTTAACCAGCAACACAGTCCTGTTGGAAATATTCCGAAGACGAAAAATGAGAGGCCTAGGACACTTTATTGCACTTTTATTTTTTCCAATGGCATTTGGTGTGGATTTCCATGTGGATCCC[G/T]GATCCTCTAACGCGCACCCGCTGTATGCGAAGTCTCCGGTATCCGTCAGAAGTCTGCTCGGGACGGGATCGGATGCAGATTTTTCTCGGGTTCACCATCGCATCCATAAAAGAAGCACCGACCGTGGCTCAGACTCATGTAATGGGTTAACGTTAGAAGGATATGAGAGCAAGTTAACTAGCAATACGCACAACGTAAGTTCACTTGCACCAATGAGCGCAACCCTAAAACCTAGAGGGTCTTTCTCTAACTTAGACAGCACCCTAACTTGACATTTTTGCGAGATAACTGATAAATCTATATATGCATTCCTTGAAAATAGAACAAGTTATTTGATTTACGAACGGCTATTAACTCTAAACAGTAAACACTTATAGTGAGTAATTCAATATTGACAAGCTAGATTGTATAAATAGCATACAATCAATCACTATACTGGGCTGTATTAACTTCCTAATAAAGAAATAACAAAACAGAGCTTGCTATTGTTTTAGGAAGAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31655
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000078710 | Essential Splice Site | 224 | 817 | 7 | 21 |
ENSDART00000134190 | Essential Splice Site | 224 | 828 | 6 | 20 |
The following transcripts of ENSDARG00000056252 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 25915777)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 25043695 |
GRCz11 | 8 | 25062834 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCATTTCTGCTTTTGAACATTTGCATAATTTCTAATTTTACTGCCGTTTC[A/G]GCATGACCTCTGGATCTCGAAAGACTTTGGCACAACATGGACAAAAATTC
Long Flanking Sequence:
TCCCGTCTTGAGGTCCTTTGCCGATCCTTTCCCTCTCTCTGCTCCCAGTGCTTTCCTGTCTGAATTCTCTACTGTCCTATCAAATAAATGTGAAAAAACCCTAAAATATAATAAAAAAAAAATTATGTTGTTCTCAAACGCTGGCTAGGTCACCTAACGTCTTGATCTAAATCTAACCTAAAATTAACGTCTTATGATGTTATGTGCCTGCTGGGTTGATGTGACACAAAAATGTGGCCAAGAAATAACTAATTAAAATTAGTTTCTTGATGGTAAATTATTTATTTTTCTGCTGGGGCATTATAGCGTTTAGCCCTGTTTAAGTCTGAAAATTTAATTCTCGATGGTTTTAAAAGGTCTTTAAAAGTCTTACATTTGACTTGGTGAAGCCCTGCTTTTACATTTTTACATATACATAAAAATACAATATTATTATGCATTTCAACTGGTGCATTTCTGCTTTTGAACATTTGCATAATTTCTAATTTTACTGCCGTTTC[A/G]GCATGACCTCTGGATCTCGAAAGACTTTGGCACAACATGGACAAAAATTCATGAGATGGTGTGCGTGGTGAAATGGTAAGATCTTTCAATGATTGTCAAAATACCTAGAAGTGAGCGAGTTAGTTATTTAGGAGCTTTGTGTTTGTGAAGACACAGGGTGGAGCACAGCCTCTTTTCTTTTTACATTTGACCAGCCTGTTTGGGAAGTTCTGGCTTGTCTTGTCACGGGTGTATATCCAGGACACAACAACACAAACATGCAAATATGGCCACCATGGCAGCAACACGAGACATTCTCTGCTGAGTCATCCTGTTTTTCCACAAGGCTCAGCTTTCAATGTCCGAAGACGCTCAGCTGCCCCAGATAAACGCCTGCATCAAACTTCACTTTAAATCTACTGTTAAAGTCTTGTGTTTTTACACTTCAACACAAAAGTAGTTATCTTTAAAAGCAAATTCATCCAGACTATCCATTTACAGGTTTAATGTTTAACCAAGAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15853
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 |
---|---|---|---|---|---|
ENSDART00000078710 | Essential Splice Site | 407 | 817 | 11 | 21 |
ENSDART00000134190 | Essential Splice Site | 414 | 828 | 10 | 20 |
The following transcripts of ENSDARG00000056252 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 25905929)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 25033847 |
GRCz11 | 8 | 25052986 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAYGTCACTTCMCTCAGAGGAGTCTACACTACTAGTGTGCTARCTGAGGG[T/C]AGGGTATATTCTAGAAAACATGCACATATATTTAAYGTRTGWGTGTTTGT
Long Flanking Sequence:
AGGCTTTGTCACAAAGTGAATGCTTTTGGGCTCTCAAGTTGCTTGGGGTTTTCACAAAGCGAGTGACATACTTAATAATGTTATCTTGCACCTCTGTAAAGTGAGAATTTCACACAAACCCCCCATTTTTCACTAGCGTTTTCCTGTTTTATACAACATCTTGAAATCAGCCACACTGGTATATAGATGCATTGTTTTTAATATGAAAATCTTGTACTGGTCAACCACAGGCATTTAGCAATACAAAAGAGTGGAACTGCCCAAAGAAACAACTGTTATTTTTTAATAAACTTGATAGACCTTCTACTGTGTCTTTTTTAACTGCCTTCTGCCTTTGTTTATTTTCCAGACACAGGCATTGGCACCATCTATGTGTCAGATGACAGAGGCACAGTCTATTCCAAGTCTCTAGAACGCCATCTGTACACTGGAGGAGAGACAGACTTCACCAACGTCACTTCCCTCAGAGGAGTCTACACTACTAGTGTGCTAGCTGAGGG[T/C]AGGGTATATTCTAGAAAACATGCACATATATTTAACGTATGTGTGTTTGTGTCAGATTTAAATTGTATGCTTTAAATCAGGGGTGTCAAACTCAGTTCCTGGAGGGCTGCGGTCCTACACAGCTTAGCTCCAACCCTGCTTCAACACACTTACATGTAGGTTTCAAATTGCCCGTTTCCACTGAGTGGTACAGTACAGTACGGTACAGGTCGGTACGGGTCACCTTTATAAGAATTGCATTTCCACTGCCAAAAGGGCACCAATAGTACCCTCTTGATGGGTGTGGTGTACGACAGAAAGTTTCAGTTGACGTCATTCTCGCTCAAGGAAATGTCAAAGTAAAGCTGTAGCGGTCATTCACAAATCATACATGAAGCATGTTCCGAACTAAACCGTACCGTACCGTACTGCTCAGTGGAAAGGGACCAAAACTGTGCAAAACTGTGGCCCACCACGAACTGAGTTTGACACCTGGTCTTTAAATGAACATGGATAAAAGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14450
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000078710 | Essential Splice Site | 444 | 817 | None | 21 |
ENSDART00000134190 | Essential Splice Site | 449 | 828 | None | 20 |
The following transcripts of ENSDARG00000056252 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 25904782)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 25032700 |
GRCz11 | 8 | 25051839 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GAAACCAGAAAACACYAAGTGTGATTCCACAGCCAAAGATGCAGAAATGG[T/A]AAGAACCKTGTAAGCAAAGGWGTGATGATKGGACAGATTGGACAGAAGTT
Long Flanking Sequence:
TATTTAACCAGTAATATTGTATAAAATTCTTTCAATTTAGAAGAACTATCAATCTAATAACATGAGATTAATTCCCGCAATGGCATAACTGTTGTTTTAAAAATGTTTTTATGGTATTATATTTAGATTATAAAAGCTGACTTTTTTTACTCCTTGATGTTACATGATACTTATAAGTTGCAGACAGTATTCTGATATGCTCATTTGGTGTTCAAGAAAACATTTTATTCTGTTTAAATACTTTGTTGTGCTTTTTAATTTAATGCATCATTTTAAATGGAAAATATTACATAAACAAGCACACGCACATACATTAGTTGACATGACCAAAGATGCCCTTATTAAAGATAATTATAGAATGGTAGTGTAATTATTTTTTATTTCTGCTAAAGATAACTCTGTACAGACAGTAATAACGTTTGACCAGGGAGGAGAGTGGGTTCCTTTGAAGAAACCAGAAAACACCAAGTGTGATTCCACAGCCAAAGATGCAGAAATGG[T/A]AAGAACCTTGTAAGCAAAGGTGTGATGATTGGACAGATTGGACAGAAGTTTTTGTTGTTTAGTGTGTTTACTTACTAGTGTTGTCTTTCTTTTGTACAGTGTAGTCTGCATATTCATGCTTCATACAGTACCTCCATGAAGGTCAACGTACCCATGCCACCTCTCAGTGAACCCAATGCTGTTGGACTTATCTTGGCTCATGGTAATAATGCAAACACACTATTAAGACCAGTGCACTGTACTTGTTTTGTTTTGTTATGGTTTGTTTTATTTCATTTTATTTTATCTGTAGTAACCTGTAATGACCTTACTCTTTTACGTGCAGGGGGACTTATTGACTCACAAATCCTAAAACAATCACAGAAAATAGGTTCTTATAGACGAATTGAAGAAAATACAAACATATATATAAATAATTAAAGTCCCCTTAAAATCAGAATTAAAGTTTTGTTGGATATTAGTGACTTTATTAGTTTAACTGCTTCAAAACAAAGACATTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21293
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 |
---|---|---|---|---|---|
ENSDART00000078710 | Nonsense | 592 | 817 | 15 | 21 |
ENSDART00000134190 | Nonsense | 597 | 828 | 14 | 20 |
The following transcripts of ENSDARG00000056252 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 25900895)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 25028813 |
GRCz11 | 8 | 25047952 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTATGAAGACGCTATGATCAGCCACTGGGTCACCTACACTATTGACTTT[A/T]AAGACCTGCTAAAACGAAATTGTAAGTGACCAGTTCAGTTTCAACCACAT
Long Flanking Sequence:
TTTTTTTGTGTTAATACATGATAAAAATTCTAAAACCTTTTCTGGTTTCACTTTGTCAAAAGTGTCCTGAAAAGAGTTAATTTCATAAAAAGTCCTTCTGGAATCAGTAAAAGCAGGACAGTCCAGTAAAATATGTTTTATAGTAAGAGGAGTTTTGCAGCACAAACACTGAGTAGGGTTTTCACCTTGGAGCAAAAAACCATGTGTGTATCTGGCTACCATAACTGGCTTTTAGATACCAGTTTTCTTTGTAATTCTTAAAAAATGAAGCTAATTTTCTTCAATGCATAATGTCTGTACATCCCACACAACTCATTGTTTATGTGCCGCACAGGTTCTCCACCGATGAGGGCCAATGCTGGCATGTTCACACGTTCACCCAGACGCCGATGTACTTCACAGGCTTGGCCTCTGAGCCTGGTGCCCGCTCAGTGAACGTCAGTCTCTGGGGTTATGAAGACGCTATGATCAGCCACTGGGTCACCTACACTATTGACTTT[A/T]AAGACCTGCTAAAACGAAATTGTAAGTGACCAGTTCAGTTTCAACCACATCTTGTTGCACTTTATAGTTTAGTTGACACAAACCATTTTTTGTTTGGTTTTCAGGCGAGAGTGATGATTATGTTCAATGGCTGGCACACTCTGATGACATCAGCGACCCAGAAGACGGTTGCATGCTGGGCTACAAAGAGCGTTTCCTGCGGGTGAGGAAGGACTCTGTTTGCTGGATTGGACGGGAATATGTAGTTAACAAACAGCCCACGCCGTGTGTCTGCACACTTGATGACTTCCTGTGGTGAGTGGAAAACTAATCCTTAAAAAATTAAAATATCAAACAAAAACGCAGTATCAGGTGAAAAAGACATACATTTTTTGAAAACTTTGGCCAGGTGTGGTTGTGTGGCCATTAAACTGCATTTTTTGCCTCATAGTGTTGATTTGCGTGCTTTTTTCTTGTTTCTAATTGGCCAACGTGCCTTTATTGTAAGGCTTTTATGCATC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14735
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000078710 | Essential Splice Site | 599 | 817 | 16 | 21 |
ENSDART00000134190 | Essential Splice Site | 604 | 828 | 15 | 20 |
The following transcripts of ENSDARG00000056252 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 25900792)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 25028710 |
GRCz11 | 8 | 25047849 |
KASP Assay ID:
2260-0598.1 (used for ordering genotyping assays)
KASP Sequence:
TGTTGCACTTTATAGTTTAGTTGACACAAACCANTTTTTTGTTTGGTTTTC[A/C]GGCGAGAGTGATGATTATGTTCAATGGCTGGCACACTCTGATGACATCAG
Long Flanking Sequence:
TCAGTAAAAGCAGGACAGTCCAGTAAAATATGTTTTATAGTAAGAGGAGTTTTGCAGCACAAACACTGAGTAGGGTTTTCACCTTGGAGCAAAAAACCATGTGTGTATCTGGCTACCATAACTGGCTTTTAGATACCAGTTTTCTTTGTAATTCTTAAAAAATGAAGCTAATTTTCTTCAATGCATAATGTCTGTACATCCCACACAACTCATTGTTTATGTGCCGCACAGGTTCTCCACCGATGAGGGCCAATGCTGGCATGTTCACACGTTCACCCAGACGCCGATGTACTTCACAGGCTTGGCCTCTGAGCCTGGTGCCCGCTCAGTGAACGTCAGTCTCTGGGGTTATGAAGACGCTATGATCAGCCACTGGGTCACCTACACTATTGACTTTAAAGACCTGCTAAAACGAAATTGTAAGTGACCAGTTCAGTTTCAACCACATCTTGTTGCACTTTATAGTTTAGTTGACACAAACCATTTTTTGTTTGGTTTTC[A/C]GGCGAGAGTGATGATTATGTTCAATGGCTGGCACACTCTGATGACATCAGCGACCCAGAAGACGGTTGCATGCTGGGCTACAAAGAGCGTTTCCTGCGGGTGAGGAAGGACTCTGTTTGCTGGATTGGACGGGAATATGTAGTTAACAAACAGCCCACGCCGTGTGTCTGCACACTTGATGACTTCCTGTGGTGAGTGGAAAACTAATCCTTAAAAAATTAAAATATCAAACAAAAACGCAGTATCAGGTGAAAAAGACATACATTTTTTGAAAACTTTGGCCAGGTGTGGTTGTGTGGCCATTAAACTGCATTTTTTGCCTCATAGTGTTGATTTGCGTGCTTTTTTCTTGTTTCTAATTGGCCAACGTGCCTTTATTGTAAGGCTTTTATGCATCATAGGCTCATTCTGAAAACGTAGCGAAATATACATTTCTGGAGATCCTGAACTATGCAGGTTTAGGGAAATGGGTTTTTGGGTCAATCAGTGCTATTGAAAAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15785
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 |
---|---|---|---|---|---|
ENSDART00000078710 | Essential Splice Site | 735 | 817 | None | 21 |
ENSDART00000134190 | Essential Splice Site | 742 | 828 | None | 20 |
The following transcripts of ENSDARG00000056252 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 8 (position 25898111)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 25026029 |
GRCz11 | 8 | 25045168 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CGACCTGAGCAAGAGATGCGTCAGTGACCTGCTTGACCCCCAGCCGCTGG[T/C]GAGACTGCATTTATATATCACAGTTCTGCATTTCTGTATTTATAAAAACA
Long Flanking Sequence:
AAATTACATTTCTATAATCATTTACTCTCCTTCAAATGGAAAAAAAAGATTCATGAGTATATTTAATCTCTTAAAACACAAAATAAGATATTTTGAAGAATGTTGGACACAGCTAGCCACTGATGTCCATAGTAGAGAAAAAATACCATGGAAGTCAATGGCAAGTGTTTTCCAACGTACTTCAAAATATTGTGTGTTCAGCAGAAGAACAGAACAGGTTTTGAATCACTTGAGGGTGAGTAAATGATGAAAGGTTTTTAATTTGTGTGAACTGTCGCTTTAAGAAACATATTAATTATTTATTAGTGGTTCATTCCGCTGTGGTGACCACTGATAAATAAGAGACTAAGCTGAAGGAAAATGAATGAATAGTTATTTTGAATTTGGCAGATACCGAAAGATTCCAGGTGATAAGTGTGAAGGAGGGAAACAACCAGAAAGAAAGGTGATCGACCTGAGCAAGAGATGCGTCAGTGACCTGCTTGACCCCCAGCCGCTGG[T/C]GAGACTGCATTTATATATCACAGTTCTGCATTTCTGTATTTATAAAAACATCAGTCACATGTACTGTAGGCTTGTTTTATGTACATAAGTGTTGAATGAACAGTTCACTCTACTATCTTTAAAAAGTGTACATTTTTAAAAGAATGCAGAAATGTGGTTGACCATAAGTGCGTTACAAAGTGACATCACCATCTACTGGCCTGATCTAGGTGAATGGGGGATCTTTTTAACAGTAGCGTTTAAACCTCATACTCACGCAGCTGTTTATCTTCTATCAGAATAATCCACAGTCAGAGCAATCCACCTCTCACACGGCTCCTATCATTGCCATGGTCATCGCCATCCTGCTGACCGGTCTAGTGTTTGGGGCACTGTTCGTAAAGAAATACGTCTGCGGTGGAAGGTCAGTCTGTTCCCCAAACATTTTAAGGTTTATATATTAAATACATATCGTTTTTTTTAAATACAAAAAGATAGTTCTGTCGGTAAACTGTCCTGCC
Associated Phenotype:
Not determined