Busch Lab

ZMP

hmcn1

Ensembl ID:
ENSDARG00000016936
ZFIN ID:
ZDB-GENE-041014-322
Description:
hemicentin 1 [Source:RefSeq peptide;Acc:NP_001177233]
Human Orthologue:
HMCN1
Human Description:
hemicentin 1 [Source:HGNC Symbol;Acc:19194]
Mouse Orthologue:
Hmcn1
Mouse Description:
hemicentin 1 Gene [Source:MGI Symbol;Acc:MGI:2685047]

Alleles

There are 23 alleles of this gene:

Allele Name Consequence Status Availability
sa9806 Essential Splice Site Available for shipment Available now
sa37095 Nonsense Mutation detected in F1 DNA Not yet available
sa37094 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa23757 Nonsense Available for shipment Available now
sa32307 Nonsense Available for shipment Available now
sa39291 Nonsense Mutation detected in F1 DNA Not yet available
sa37093 Nonsense Mutation detected in F1 DNA Not yet available
sa16438 Nonsense Available for shipment Available now
sa17994 Nonsense Available for shipment Available now
sa43489 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa37092 Nonsense Mutation detected in F1 DNA Not yet available
sa11019 Essential Splice Site Available for shipment Available now
sa19239 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa23756 Essential Splice Site Available for shipment Available now
sa32306 Essential Splice Site Available for shipment Available now
sa30717 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa43488 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa9806
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000020389 Essential Splice Site 1164 5616 24 107
ENSDART00000144705 Essential Splice Site 1081 5534 23 106
ENSDART00000148185 None None 289 None 5
Genomic Location (Zv9):
Chromosome 20 (position 34244512)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 34317025
GRCz11 20 34219904
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTTTTCRGCTTTCKCAMTTTTATTAATACTCCTTTCTCTTTWTTTTGCA[G/A]TTCSTCCCAGCATCMGTGCAGGTCCCCGAGCCATRAAAGTGCAGATCGGT
Long Flanking Sequence:
CGTGATGTTGGAGAGATCAGCTTTGCCTCAGCTGCTCTGAGCAAAATGTGATAATAATTATAGAGTCTTATAAACACAAGAGCACATGCAGACACATCTGTAAGTGAAGTTATTTATAATGACTACAATTAAACCCTTAGTCGTTTTAATCTTGGATTATAGTTTTCCATAAGACTCAGACGCAGATGCTTCGGCAGTCTGAGAAATGAGAGCTACAGCAAAGCGGGAATGTGCTGTTTGATTTATCACAGCTACCAAATGTCTCATCAGGAAGATTAACATCCAGAAAAAAAGATGTGAGAACATCATCTATAACCTCCGAGGGCGAATAAGGACAGGTTGCTGTTTCTGTGCACAGCCGATGCTTTATGAGCAACAAATCAAACCTAATGACGTGCTATGAAAGAATGCGTTACTACCACATATGTTTAACACTTATGCAAGAGCACATGTTTTCAGCTTTCTCACTTTTATTAATACTCCTTTCTCTTTTTTTTGCA[G/A]TTCCTCCCAGCATCAGTGCAGGTCCCCGAGCCATGAAAGTGCAGATCGGTCACGCCATAGACCTGCCCTGTGTCACACAGGGAGTCCCAGAGCCCTCGGTGTCCTGGCTAAAGGATGGTACTGTTCTGCAGGACGGGTCTCGGTACAGGATCTCAGATGGAGCTCTGACTCTAAACCAGGTGGCGCTTACAGATGAAGGCATCTATGTCTGCAGGGCCGTCAACATTGCTGGAAAAGAAGAAACTGCTATTCAACTACATGTGCAGGGTTAGATGTTAAATGTTGACATCTACAACTGTGCTTTTTAGCTTTAAGTAGACTTTAAATCCAACGCATTGCCTTTTGCTCCTTACAGTCCCTCCTGTCGTAGAGGTTTCTGAGCCCCCTTTCAACAGCCCCTTACAGGAGAGAGTGGCTAACCAGCAGATCGCCTTCCCCTGTCCTGCCAAAGGTGAACCTGCACTTTGAGAAATCCAACTTTTTTTTTTTTTGGTTTAGCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37095
Status:
Mutation detected in F1 DNA
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
ENSDART00000020389 Nonsense 1232 5616 24 107
ENSDART00000144705 Nonsense 1149 5534 23 106
ENSDART00000148185 None None 289 None 5
Genomic Location (Zv9):
Chromosome 20 (position 34244306)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 34316819
GRCz11 20 34219698
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATGGAGCTCTGACTCTAAACCAGGTGGCGCTTACAGATGAAGGCATCTA[T/A]GTCTGCAGGGCCGTCAACATTGCTGGAAAAGAAGAAACTGCTATTCAACT
Long Flanking Sequence:
TGAGAGCTACAGCAAAGCGGGAATGTGCTGTTTGATTTATCACAGCTACCAAATGTCTCATCAGGAAGATTAACATCCAGAAAAAAAGATGTGAGAACATCATCTATAACCTCCGAGGGCGAATAAGGACAGGTTGCTGTTTCTGTGCACAGCCGATGCTTTATGAGCAACAAATCAAACCTAATGACGTGCTATGAAAGAATGCGTTACTACCACATATGTTTAACACTTATGCAAGAGCACATGTTTTCAGCTTTCTCACTTTTATTAATACTCCTTTCTCTTTTTTTTGCAGTTCCTCCCAGCATCAGTGCAGGTCCCCGAGCCATGAAAGTGCAGATCGGTCACGCCATAGACCTGCCCTGTGTCACACAGGGAGTCCCAGAGCCCTCGGTGTCCTGGCTAAAGGATGGTACTGTTCTGCAGGACGGGTCTCGGTACAGGATCTCAGATGGAGCTCTGACTCTAAACCAGGTGGCGCTTACAGATGAAGGCATCTA[T/A]GTCTGCAGGGCCGTCAACATTGCTGGAAAAGAAGAAACTGCTATTCAACTACATGTGCAGGGTTAGATGTTAAATGTTGACATCTACAACTGTGCTTTTTAGCTTTAAGTAGACTTTAAATCCAACGCATTGCCTTTTGCTCCTTACAGTCCCTCCTGTCGTAGAGGTTTCTGAGCCCCCTTTCAACAGCCCCTTACAGGAGAGAGTGGCTAACCAGCAGATCGCCTTCCCCTGTCCTGCCAAAGGTGAACCTGCACTTTGAGAAATCCAACTTTTTTTTTTTTTGGTTTAGCAATAATTGGTCTGTCTGTAAAGTCTGTACAACTACATTTAACACATTTACTTAACCTAATTAAAAATCTTCTTCATTAAGTTAAAAAGATCAGTTTTGTGAGCAAAACTTTTCAAGTTCACCCAAAAAAAATCTTCTTGCAGCTTATTACTTTTGAATTAATCTCAGACCTCCTCCCTTGAAAAAAATAAAAGTTGCATTATTTCTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37094
Status:
Mutation detected in F1 DNA
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
ENSDART00000020389 Essential Splice Site 1252 5616 24 107
ENSDART00000144705 Essential Splice Site 1169 5534 23 106
ENSDART00000148185 None None 289 None 5
Genomic Location (Zv9):
Chromosome 20 (position 34244244)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 34316757
GRCz11 20 34219636
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGTCAACATTGCTGGAAAAGAAGAAACTGCTATTCAACTACATGTGCAGG[G/A]TTAGATGTTAAATGTTGACATCTACAACTGTGCTTTTTAGCTTTAAGTAG
Long Flanking Sequence:
AGGAAGATTAACATCCAGAAAAAAAGATGTGAGAACATCATCTATAACCTCCGAGGGCGAATAAGGACAGGTTGCTGTTTCTGTGCACAGCCGATGCTTTATGAGCAACAAATCAAACCTAATGACGTGCTATGAAAGAATGCGTTACTACCACATATGTTTAACACTTATGCAAGAGCACATGTTTTCAGCTTTCTCACTTTTATTAATACTCCTTTCTCTTTTTTTTGCAGTTCCTCCCAGCATCAGTGCAGGTCCCCGAGCCATGAAAGTGCAGATCGGTCACGCCATAGACCTGCCCTGTGTCACACAGGGAGTCCCAGAGCCCTCGGTGTCCTGGCTAAAGGATGGTACTGTTCTGCAGGACGGGTCTCGGTACAGGATCTCAGATGGAGCTCTGACTCTAAACCAGGTGGCGCTTACAGATGAAGGCATCTATGTCTGCAGGGCCGTCAACATTGCTGGAAAAGAAGAAACTGCTATTCAACTACATGTGCAGG[G/A]TTAGATGTTAAATGTTGACATCTACAACTGTGCTTTTTAGCTTTAAGTAGACTTTAAATCCAACGCATTGCCTTTTGCTCCTTACAGTCCCTCCTGTCGTAGAGGTTTCTGAGCCCCCTTTCAACAGCCCCTTACAGGAGAGAGTGGCTAACCAGCAGATCGCCTTCCCCTGTCCTGCCAAAGGTGAACCTGCACTTTGAGAAATCCAACTTTTTTTTTTTTTGGTTTAGCAATAATTGGTCTGTCTGTAAAGTCTGTACAACTACATTTAACACATTTACTTAACCTAATTAAAAATCTTCTTCATTAAGTTAAAAAGATCAGTTTTGTGAGCAAAACTTTTCAAGTTCACCCAAAAAAAATCTTCTTGCAGCTTATTACTTTTGAATTAATCTCAGACCTCCTCCCTTGAAAAAAATAAAAGTTGCATTATTTCTAACCCTAACAACAATGACAAACATAATAGTGACACTAATAATAATATTCATGTCATAATTATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23757
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000020389 Nonsense 1608 5616 31 107
ENSDART00000144705 Nonsense 1525 5534 30 106
ENSDART00000148185 None None 289 None 5
Genomic Location (Zv9):
Chromosome 20 (position 34237266)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 34309779
GRCz11 20 34212658
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACCGAGGGCAGTTCCTCAAGATCTTAAGAGCTCAAGTTTCTGATGCTGGA[C/T]AGTACACATGTAGAGTCACCAGTGTGGCTGGCACTGCTGAAAAAGTTGTC
Long Flanking Sequence:
TTAGTGTAATCTGTCTCCTTTTCACTGTGTGTTTTAGGCCAGTGTTTCTGGGTGACCCCAACATTGAAGTTTTAAACAGAGGACAGCAGTTGAAGATAAAGAGCGCTCGCTTGGGGGACCAGGCACGATACCAGTGCAGCGCTACCAACGCAGCAGGAAAGCAGTCCAAAGATTTTAACCTCAGTATATTTGGTAATTTTGCTCTTATTATTGATTTTGCATCAACAGAATAGAAAAAAATTCTAAATGCTAAATGTCCTGTCTGTCTTTTCATTCGGCATCCCTAAGTGCCACCCAGTATTAAAGGAGGAAACGTGTCTTCTGAGGTGACCGTTCTGCTGGGTAACCTGGTGACTCTGGAGTGTGAGGTGCGTGGTGTGCCACTGCCTGCCGTCACATGGTACAAAAATGGAGAGGTCATTCTGTCTAGCAGACAGGCCCAGTATGTGGACCGAGGGCAGTTCCTCAAGATCTTAAGAGCTCAAGTTTCTGATGCTGGA[C/T]AGTACACATGTAGAGTCACCAGTGTGGCTGGCACTGCTGAAAAAGTTGTCGAGTTGGATGTGTATGGTGAGGGCTAACAAGTTTTATTGTTATTTTTTTTGTTAATTGTTATTAAAAGTGAAATATGTAAGTTTGACACCTAGTGGTTGAACTAGGTATTGCACGCCTGGTTCGAAACACACACAACAGCAGGTTGCCAGATTGACAACATTAACAGCAGTGTGCCTGACTGTTATTATACCTTCAGAATCTTATAAAGTCCCATGCCTATTGAGTACTTTCATAATAATTCATTTATTTGTAATTATTTGCATCATTACGTACAGTATGGTTTCATTCTACACCTTGACTTCTTCATATATTTATCCTTTATTCAGTTCCACCCTCCATCACTGCCGGTTCGGATGGTCCCACAGACATGAAAGTTGTGCTCAATAAATCTCTGATTTTGGAGTGTGAGGCTGAAGGTCACCCTCCACCCTCACTGACCTGGCTCAAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32307
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000020389 Nonsense 1901 5616 36 107
ENSDART00000144705 Nonsense 1818 5534 35 106
ENSDART00000148185 None None 289 None 5
Genomic Location (Zv9):
Chromosome 20 (position 34232555)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 34305068
GRCz11 20 34207947
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGATGCTGGGAAATATACATGTGTGGCAACTAATGCAGCAGGCGAGGCA[C/T]AACAGCATATTCGCCTAAGTGTGCACGGTATGAGGTTTATGACAATTAAA
Long Flanking Sequence:
CTTTACCCATCTAGTTTTGCTTCATGTTTTCTTTTTCTGCTCTCAGAAAGGAAAGTATAAGGTGACTTTCAGGCTCCTTCTAAGTTATAAAAACATTTCAGTTAGTTTTTATGGCCAACGTCCATTGTTAATTTCTATAATATTTGTTTTTTAGTCCCCCCAGCTATACGCTCTACTGGTCCAGCTGAGAGGTCAGTGGTGCTTCACACATCCATCAGCCTCCAGTGTGTGGTTAGTGGAATCCCACCTCCCAGCACCACGTGGCTCAAAGATGGTCGTCCTGTGGACACCACACAAGAATTTCTGAAGGTCAGACTTTACGTAAAGCAGGAGCTCTCCAAAGAAAATCAAGTGTTTGATAGGGTTTGTGTGACCACATTATACTGTCTCCTCTCTGCATGTAGCTGGAATCCGCAGGCAGGGTGTTGCACATAAAGAAGGCCAGGCTGGAGGATGCTGGGAAATATACATGTGTGGCAACTAATGCAGCAGGCGAGGCA[C/T]AACAGCATATTCGCCTAAGTGTGCACGGTATGAGGTTTATGACAATTAAAAATTACTCTTTTACTCTATAATCTGATTAGGCAATGTTTTTATTGAATATGTGATAACTATAACATAATTTCTGAAGTGTGATAAGAGCTGTACATCATCTTTATGCACTGAAATGTTGATTTTACCAAATATTTATATTTAAAATCCACATGAACTGAAAGCTTCGACCATTTTGTTTTTGTATTGTGCCTCTAGTTCCTAGTGAAATGGATTATCATGTGAAAACCTGTGGCCCGGCTTGTTTTTTTTCTACAATGAGCTTATTGGATGTAATAAAGTAGGCATTTCATTCAGAAAGACCGGGAAAAGGGTTTGGGGAGAGTTATTACAACCTAATAGACTTTTCCTCCTCACCATTTCTGTTTGTTTTCATGGCTCTGTCAAAGTTGGAGGGGCATGGTTGAGTATGTAAACTATGCCCAATACTTCAGACAGACGTAATATGAGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39291
Status:
Mutation detected in F1 DNA
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
ENSDART00000020389 Nonsense 2012 5616 39 107
ENSDART00000144705 Nonsense 1929 5534 38 106
ENSDART00000148185 None None 289 None 5
Genomic Location (Zv9):
Chromosome 20 (position 34230257)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 34302770
GRCz11 20 34205649
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCTGATGTATTCTGTTGTTTTAGTTCCTCCCACTATCTCCAGTAAAGGA[G/T]GAATGGTAACAGTGGTGGTGAATGATCCAGTCAGGTTAGAGTGTGAAGCC
Long Flanking Sequence:
CCAAGTATTCAGTATGCTGGAGAGATGCTCAATGAAACCATCCTTGCTGGTTTTCAAATTCAGCTGAAGTGTAAAGCAACAGGAAGTCCATTGCCGGGTGAGACATGCTGCATTTCCACTTTTTAGGATACTAAAAATTATACTTGAACAGGCTAGTAACAGCAGCGGTATAGTTCAAACTGTTTTTCTAAAATTAGCCTATCTCTGCTGTAGCTGTGACGTGGTATAAAGATGGACGCCCATTAACAAGTGCTGCAGGGGTTAATATTCTGAGCAGAGGTCATGTACTGGAGATCGACCGTGCGCAGGTGTCAGATGCAGGATTCTACAAGTGTGTGGCCATCAATGTGGCCGGCAGCACTGAGCTCACATACAGTCTACAGGTGTATGGTGAGTGTGTGTGTCTCTCACCAAAACAATTCAGTTGTAACTTCTCTCTTGGTTTTAATCATCTGATGTATTCTGTTGTTTTAGTTCCTCCCACTATCTCCAGTAAAGGA[G/T]GAATGGTAACAGTGGTGGTGAATGATCCAGTCAGGTTAGAGTGTGAAGCCTCTGGAGTTCCTGTGCCCAGCCTCACCTGGCTAAAAGAGGGCAGTCCTGTCTCCAGCTTCTCAGATGGCATCCAGGTCTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGGAAGGGAAATTTGAGTGTTCTCATTCTTAAATTATGTATCCATGTTTGTTTGGACTAGTGATGAAAAGTCTTTAAATTTCTGTCTTACTAGGTGCTGTCAGGTGGCAGAGTGTTGTCTTTCATAAGTGCACAGGTCAGTGATGCTGGCCATTACACCTGTGTGGCTGTGAATGCAGGTGGAGAACAGCACAGAGAATATGAGCTACGTGTGTACGGTGAGCTAAGAAAGCACTCGCACTCTAAACCCAGTCAAATCTGGGTTAACAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37093
Status:
Mutation detected in F1 DNA
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
ENSDART00000020389 Nonsense 2482 5616 48 107
ENSDART00000144705 Nonsense 2401 5534 47 106
ENSDART00000148185 None None 289 None 5
Genomic Location (Zv9):
Chromosome 20 (position 34220031)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 34292544
GRCz11 20 34195423
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCCACCCAGCATTGTGAACGAGGGCACAGTAGAGGATGTGAAAGTGAAA[G/T]AGAGACAGAATGCCATTTTGGCCTGTGAGGTCACTGGTAAGTGACACGAA
Long Flanking Sequence:
AGCAATGTGTTTACTAGTTGTAAAATCTGTAATCCCCTTTACCCTTTCTTTGATCCATTCATAATAATGACAAAACTTTGATTGCAGAAATGCCTCTCTGCCATCTTGATTTCTGTCTGTCCCTGCATTCCCTTACTGAGTGTGGGATTCTTTAAGTTCATTTTAATTCAGCTCTTTATTTTTTATAAGCCAATTAATTGAACTAAAAATAACACACTTTACATTTTTTTTAAAAAGTAAATCAAATAGCATTACTTCATTTTTAAAAGTAGTACATTACTTTACTCGTTACTTAGAAAAGTAATACTATTACTCGCATTAAACCAACACTGGAGGTTAGCATAGTTTGGAGGAGCTTCCATTTGTCAGGAGCACAAGTGTTATGCACAGATTGTTGTATGGGAAGTTTAGTAAACTTATTTAATTTCACCTTCATTATGTCTACCTCAGTGCCACCCAGCATTGTGAACGAGGGCACAGTAGAGGATGTGAAAGTGAAA[G/T]AGAGACAGAATGCCATTTTGGCCTGTGAGGTCACTGGTAAGTGACACGAACCACAAGATTACTTGTTTATCCCTTATCTGGTGTTGATCTCATATCTTTGGTTAACCAGTTGCTTGTGATGCCTAGGTAATCCAGTGCCGGAGATCACATGGTTGAAGGACGGCCAGCCATTGGCTAGTGACACAAGGCTTCAGGTGATGTCAAACGGACGCTTCCTGCAGATCAGTGCATCACAGGTGGCCGACACAGGCAGGTATAGCTGTCTGGCCTCTAACAGCGCTGGAGACAGGAGCAGACACTTCAACCTCAATGTTTTAGGTATGTTTTTGGAATTATAGGGCTCTTATTTTACCCCTTTTACAAGCTGTAAGATACATCTTTGGTGTCTCCAGTGTATGTTTTCAAAGTTTCAGCTCAAAATACCCATAAGATGAGTCAAATATAGCAAGACCAGTAAGTTTATTTGATATATTTGTGGCAGAGTTCATTCAAGCAAACAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16438
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000020389 Nonsense 2698 5616 52 107
ENSDART00000144705 Nonsense 2617 5534 51 106
ENSDART00000148185 None None 289 None 5
Genomic Location (Zv9):
Chromosome 20 (position 34218338)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 34290851
GRCz11 20 34193730
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AYGCYGGAGTGTGAAGCTCAAGCTATCCCAAYACCGACACTAGTGTGGTA[C/A]AAGGATGGTCAGGTGAGAAWTGCACAAAACTCWRAATATTTTNCTCCTATG
Long Flanking Sequence:
TGCTTCCAGGTCAGACCTCAGACTTCCTCTTGGTGTAAATGAAAGATGTAAAGCTATATGCATTGTTTTTTTGGAATGTTTATTTTATTTTTTTCTCATTGCTGCTTCAAGTCGCTTTTTTATTTATATGGATTATGTTTAACACTGCTAGCTTATTGGTGTATCTTGTGACAGGTGGTCGCACTTTACAGATCTTGAATGCTAAGGAAGAGGATGCTGGGAGATATACATGTGTGGCGACTAATGAAGCTGGGGAGACACTGAAGAACTATGAGGTCAAAGTTTTCGGTGAGTGTTAGAACTGAGCTATATCGCCACCTTTTGATTTAGAGGAATCTAACATTTTTTTTCCTTCTGAAACTTGCAGTTCCTCCAGTTATCAATAAAAATGACATCCCAGGAGAAAGTCTTGCCCCCAAAGAGGTGAAAATCAAAGTTAACAACACCCTTACGCTGGAGTGTGAAGCTCAAGCTATCCCAACACCGACACTAGTGTGGTA[C/A]AAGGATGGTCAGGTGAGAAATGCACAAAACTCTAAATATTTTCTCCTATGAGCATTTTTGAGTTTTCACTCCAATGTGGTTCTTTCTTTCTGTAGATCCTGAAAGCGGATGGTCATCTCACTATCACAGCCAATGGTCGAATAGTTCAGATTAAACACACTCAGGTGTCCGATACTGGTCGATATACCTGTGTAGCCACCAACATTGCTGGAGAGGATGAGAAGGACTTTGATGTAAATATACAAGGTGAACAGGGTTTTACAAATTCAAAATGAAAAATTAAGAAGTCTCTGGATGCATATAGGCTATAAAGTTGCAAAGTTTAAGAGTTACAACAACATTTAAAAGGCTATAAAATTGGGAAAAGTTAGGAACTGACATCTGAATTTATCTGCAGTGTGTACATTTCCATTTAATTTTTTTTTACTTTCTTTCTTGTTTTGTTTTTTAGACATAAAATAAAAATAATCTTCTGTTTTAATCTAAATGAGTCTAATCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17994
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000020389 Nonsense 2846 5616 55 107
ENSDART00000144705 Nonsense 2765 5534 54 106
ENSDART00000148185 None None 289 None 5
Genomic Location (Zv9):
Chromosome 20 (position 34216299)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 34288812
GRCz11 20 34191691
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGATACACATGTGTRGCTGTGAATGAGGCTGGTGAAGACTCAATCCAGTA[T/A]GATGTCAGAGTGTTGTGTGAGTATATTGTTTTGTACATGCTAAACATSAC
Long Flanking Sequence:
CTTGGGAGATTATCCTTTTCATTTTTTTCTATCTGTGGATTTTGTGCCATTATCTACAGGCTTTATCTTTGTCCATAATCCTAAAATCCTATCTGTGTCTCAGTTCCCCCTAGTTTTCGAGGCTTTGGAGACTCTGGCCCTGGTAATAATGGAGAGGTGAAGGATGTGATTCTTAATAATCCCATCTCCCTGTACTGTGAGACCAATGCCGTCCCTCCTCCTGTCCTCACCTGGTACAAAGACGGACACCTGCTGACCTCTAATGATAAAGTACTCATTCTGCCAGGTAATAAAAACATTTGAATTAAGTATCATGGCAAAATAATTTGTCAAATGTGTTCTGTATGTTAATGATCAGTGTATAAGACCTTAAAATATTTTGTTTCATATTTTTCTCACACAGGTGGCCGAGTCCTCCAGATTCCTCGAGCCCAGGTAGACGATACTGGGAGATACACATGTGTGGCTGTGAATGAGGCTGGTGAAGACTCAATCCAGTA[T/A]GATGTCAGAGTGTTGTGTGAGTATATTGTTTTGTACATGCTAAACATGACTAAAGCAACAACTTAAAGTGTTGCTCGTGTTTTTTGATAGTGCCGCCCTCAATTCGGGGAGCCGATGGTGAATTGCCTGATGAAGTCACAGTTCTGGTAAATAAGACTATGTTACTGGAGTGTCAGGTGGATGGAAGTCCCACTCCTAAAATCAGCTGGGTCAAGGACAGTCAGCCTCTCACCCAAGACAACACCCACAGGCTTCTGTCCAATGGCAGGACATTACAGGTAAATCATCTGTGATGTAACAGTAACTAGATTTTTATGTATGTATTATATATAAATATCAGGCTGCATGGTGGCTTAGTGATTAGCACTGTCGCCTCACAACAAGAAAGTTGCTCGTTTGAGTCCCAGATGGGCAAGTTGGCATTTCTGTGTGGAGTTTGCATGTTCTCCCGGTGTTGCCGTGGGTTTCCTCCGGGTTCTCCGGTTTCCCACACAGTCCAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43489
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000020389 Essential Splice Site 2947 5616 57 107
ENSDART00000144705 Essential Splice Site 2866 5534 56 106
ENSDART00000148185 None None 289 None 5
Genomic Location (Zv9):
Chromosome 20 (position 34215362)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 34287875
GRCz11 20 34190754
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAAAACTTAGCTGGGACAGCAGAGAAATCCTTCAACTTGCATGTGCATGG[T/G]GAGTATATTTAGATTTTTCCCTTGCATTGCATTTTAAGTTATCCATTTTA
Long Flanking Sequence:
TTGCATGTTCTCCCGGTGTTGCCGTGGGTTTCCTCCGGGTTCTCCGGTTTCCCACACAGTCCAAAGACAGTACAGGTGAATTGGATAAACTAAATTGCCCAAAGTGTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGCGTGTGTGCGTGTGTGAGTGAATGAATGAGTTGTTTCCTAGTGAAAGGGCATGCGCAGCATAAAACATATGCCGGAATAGTTGGCAGTTCATTCCGCTGTGCCGACTTCTGAAATAGAGACTAAGCCTAAGGAATGTATGAATGTATAAATGATAGTAATTAAAATATATATAAATATGTTGTTGAATGTTTGTATATAATAATATAATCATTTTATTTATAATAAATAATGAAATATAGTGTGTGTGTTGTAGATTTTAAATGCACAGGTGACAGATACAGGACGTTATGTATGTGTGGCTCAAAACTTAGCTGGGACAGCAGAGAAATCCTTCAACTTGCATGTGCATGG[T/G]GAGTATATTTAGATTTTTCCCTTGCATTGCATTTTAAGTTATCCATTTTATCAATTAATGCATTCCCTATGTATTAAACCATCATGACCTTGAGTTAATATCAAGCTTTATTGTCTGAAGTAATTAATCATATATGATGACCTTTTATAACTAATAATGTCATATTTGTTTGGGTTTTTCATAAGTATCTCCCACTATTGTGGGCATCAGAGAGGAGAATGTGACCGTGGTGTTGAATAACTTTGTATCTCTAAACTGTGAGGCCACTGGACTCCCGCCACCAACCCTCAGATGGTTCAAAGACAGGAGACCTGTACAGGCTAGCACCAACGCACTCATAATGCCTGGTACACACACACACACATACACACTCACACACAAAAGCTAATTACACAATTTAGGCTATTATTAGGGTGTGTTTTAGTTGATCAGATCACAAGTAGACAAGTGAGACACATCTCTGTTTACACCTGGTGTTTTAATCCATGGCTACTTTAAAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37092
Status:
Mutation detected in F1 DNA
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
ENSDART00000020389 Nonsense 3207 5616 63 107
ENSDART00000144705 Nonsense 3126 5534 62 106
ENSDART00000148185 None None 289 None 5
Genomic Location (Zv9):
Chromosome 20 (position 34211111)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 34283624
GRCz11 20 34186503
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCAGTAAGCTGCAGATTTCCCGCTCACAGTTATCTGACAGTGGCACTTA[C/A]ACCTGTGTTGCATCCAATGTGGAGGGCAAGGCCCAGAAAAACTACCATCT
Long Flanking Sequence:
GTTACAGTCAGTGTTTTATCAAACTTTGTCTAGTTCCCCCCAGGCTGGACGGCCCAGCAGAAGAACGTGTTGTCGAAACCATTAGTAATCCTGTCACCTTCGCCTGCGATGCTACCGGGATCCCTCCTCCCTCCCTCACCTGGTTGAAGAATGGCAGAGTAATAGGTGAGATAGACAAGTTACAGGTGTCTTAAAGAGAACTAAAAAATAAAAATAGTCATAAATTGCTCACCCTCACCTTGATCCAAAACTGTAGCTTTTTTCGTCTGCAGAACATAAAATGGTGATAGTAAAAGTTTAGGTTCCCATTAACTTCCTTGACTTTTTTTTGGCAAAAATTACAATAAAGGTCAGCAGGATTTAAAACTCTTAATCAAAATATGTCTAATGCTTGTTTTGATTGTCTTTGTAGAAAACTCAGAGTCTCTAGAGATGCATATCCTGTCTGGGGGCAGTAAGCTGCAGATTTCCCGCTCACAGTTATCTGACAGTGGCACTTA[C/A]ACCTGTGTTGCATCCAATGTGGAGGGCAAGGCCCAGAAAAACTACCATCTTGTAATACATGGTACAGAATATTTACCAAAAAAACATGCATTCAGCAGTGTTCTTGTTAGACCAATTTACCGTCCATATTGTGTTCTTCAGTCCCGCCAAACATTATAGGATCTGAGTTACCCAGTGAGATGAGCGTCCTGCTGAACGACAGCGTCCAGCTGGTGTGCCGCGCTGAAGGAACTCCTACCCCTGAGATCCAGTGGCTGAAGGATGGTATGACAATTAGCAGAACTGCACAGAAGAACATTAAGTGAGTGTCATTATGTCGCTATTCAGTGCGCATACTGTTTTTCCATAATGTTTTTGTGTAATGATACAACACAAGTTGAGCATGATTCTTTTCTTCAGAATCAGCCCTGATGGCAGCACACTGACTGTGACAGCTGTCCACACATCTGATAGTGGAAAATACACATGTGTGGCCACCAATCAGGCTGGAGAGGAGGACC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11019
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000020389 Essential Splice Site 4061 5616 80 107
ENSDART00000144705 Essential Splice Site 3980 5534 79 106
ENSDART00000148185 None None 289 None 5
ENSDART00000020389 Essential Splice Site 4061 5616 80 107
ENSDART00000144705 Essential Splice Site 3980 5534 79 106
ENSDART00000148185 None None 289 None 5
Genomic Location (Zv9):
Chromosome 20 (position 34202334)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 34274847
GRCz11 20 34177726
KASP Assay ID:
2261-4626.1 (used for ordering genotyping assays)
KASP Sequence:
TCAGAATCCAGCAGGCACTGCCCWGGGGAAAACYAAACTCAGAGTTCAAG[G/A]TTAGGCTCMCTCATAGGCTGGGATGATTAAACATCTGTGRAARAGGTTAT
Long Flanking Sequence:
CAACGGGCTCGCCTCGCCCAACTATTACCTGGCAGAAAGAGGGCATCAACATCTTTACCACAGGTGGAAAATAATTCTACCACTCTGGAGATCAACACCAAGCTTTACATCTAGCATCTTAATCAATGCATTTTATTACAATATTGTATAATATAACATTGTATTGTTTTCTGTACATTAATATTCAGACAATAGCTTGCTGTTTTTTATTCACCAAGGCTTTATTTATTTATTTATTTGTTTATTTATTTAGATCAAAAAATTGTTATACAATTAAATCTGTTTTATTAAATTTTAAAATGCCTATGTTGGTAAAGTACGTTCTATTACCAATGCTGGCAAAATGCAAACCCTTTCATTCTCAGGAGGTGGTTTTACGGTGCTCCCCAATGGTGGTCTGCAGATCTCTAAAGCCAAAGTGGAGGATTCTGGGACCTACATGTGTGTAGCTCAGAATCCAGCAGGCACTGCCCTGGGGAAAACCAAACTCAGAGTTCAAG[G/A]TTAGGCTCCCTCATAGGCTGGGATGATTAAACATCTGTGAAAAAGGTTATAAGTTTCACTTCTCTTGCAGTTCCCCCAGTCATAACATCTGACATCAGGGCCTACACTGTGGCATTAGATGTTTCGGTAACTCTGCAGTGCAACTCGGAGGGTTTCCCCACTCCCTCTGTCTCCTGGCATAAAGACGGGCAGCTGCTGAGTGAGTCAGTGCGTCAACGAGTCCTTAGCACAGGCGCACTGCAGATCGCATTTGCTCAACCTGGAGACACTGGCAGATACACCTGCACTGTTGCTAATGTAGCTGGAAGCAGCAGTCTGGATATCAGCCTTACTGTACAGAGTGAGTCACAAGGATTTCGAGATTGATTGAATTATTAATGTGAATGAAATTACAATTGATTTATTATATTTTTAGTATAGTTTAATTAAATGTTATTAGAGATTGGTTGTTTAAATGAATATTAGGTTTAATTTTGAAACAGTATTTTATACATATATAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19239
Status:
Mutation detected in F1 DNA
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
ENSDART00000020389 Essential Splice Site 4061 5616 80 107
ENSDART00000144705 Essential Splice Site 3980 5534 79 106
ENSDART00000148185 None None 289 None 5
ENSDART00000020389 Essential Splice Site 4061 5616 80 107
ENSDART00000144705 Essential Splice Site 3980 5534 79 106
ENSDART00000148185 None None 289 None 5
Genomic Location (Zv9):
Chromosome 20 (position 34202334)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 34274847
GRCz11 20 34177726
KASP Assay ID:
2261-4626.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCAGAATCCAGCAGGCACTGCCCTGGGGAAAACCAAACTCAGAGTTCAAG[G/A]TTAGGCTCCCTCATAGGCTGGGATGATTAAACATCTGTGAAAAAGGTTAT
Long Flanking Sequence:
CAACGGGCTCGCCTCGCCCAACTATTACCTGGCAGAAAGAGGGCATCAACATCTTTACCACAGGTGGAAAATAATTCTACCACTCTGGAGATCAACACCAAGCTTTACATCTAGCATCTTAATCAATGCATTTTATTACAATATTGTATAATATAACATTGTATTGTTTTCTGTACATTAATATTCAGACAATAGCTTGCTGTTTTTTATTCACCAAGGCTTTATTTATTTATTTATTTGTTTATTTATTTAGATCAAAAAATTGTTATACAATTAAATCTGTTTTATTAAATTTTAAAATGCCTATGTTGGTAAAGTACGTTCTATTACCAATGCTGGCAAAATGCAAACCCTTTCATTCTCAGGAGGTGGTTTTACGGTGCTCCCCAATGGTGGTCTGCAGATCTCTAAAGCCAAAGTGGAGGATTCTGGGACCTACATGTGTGTAGCTCAGAATCCAGCAGGCACTGCCCTGGGGAAAACCAAACTCAGAGTTCAAG[G/A]TTAGGCTCCCTCATAGGCTGGGATGATTAAACATCTGTGAAAAAGGTTATAAGTTTCACTTCTCTTGCAGTTCCCCCAGTCATAACATCTGACATCAGGGCCTACACTGTGGCATTAGATGTTTCGGTAACTCTGCAGTGCAACTCGGAGGGTTTCCCCACTCCCTCTGTCTCCTGGCATAAAGACGGGCAGCTGCTGAGTGAGTCAGTGCGTCAACGAGTCCTTAGCACAGGCGCACTGCAGATCGCATTTGCTCAACCTGGAGACACTGGCAGATACACCTGCACTGTTGCTAATGTAGCTGGAAGCAGCAGTCTGGATATCAGCCTTACTGTACAGAGTGAGTCACAAGGATTTCGAGATTGATTGAATTATTAATGTGAATGAAATTACAATTGATTTATTATATTTTTAGTATAGTTTAATTAAATGTTATTAGAGATTGGTTGTTTAAATGAATATTAGGTTTAATTTTGAAACAGTATTTTATACATATATAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23756
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000020389 Essential Splice Site 4620 5616 89 107
ENSDART00000144705 Essential Splice Site 4538 5534 88 106
ENSDART00000148185 None None 289 None 5
Genomic Location (Zv9):
Chromosome 20 (position 34196538)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 34269051
GRCz11 20 34171930
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGGGCAAAGCGGTGGAGGCCATCATGTGTAGCATAAGACCATGCCCAGG[T/C]GAGTGGATAAACATATCTTCTTCTGCATATGCATATCAGCCTTTATCACT
Long Flanking Sequence:
CCTTTTTCTTTACAATAATAAATACAATACAAAAAGTAATTCATTTATTATTTCACTCATATTTTAAGGTATTTTTATTTTATTTATTTTTTATTTGTAATTTGTGTTTTTCACATTTTTATTAGCTTTTGAGGTTTTCTATTTTCTCTTTAGTTTTAATTTTTTTTAGGATTTGATATTTTAGTGTTAATACCTTAACTTATTTATTATTGTATCATTTGTTTTATTTTTCTGTACCCTAAGGAGTTCTTCTAAACAAAAAAAGCAATAATGTAGAGGCTCATTTACTCCGTTTTCTATTATTGTAATCATCTCTTTGTCTAAATAGTGGATGGTAGTTGGTCAGAGTGGTCTTCCTGGGAGGAGTGCTCTCGTACCTGCGGTCAGGGTAACAGAACAAGGGTGCGGACATGTAGTAATCCTCCTGCCCAGCATGGAGGGAGAGCTTGCGAGGGCAAAGCGGTGGAGGCCATCATGTGTAGCATAAGACCATGCCCAGG[T/C]GAGTGGATAAACATATCTTCTTCTGCATATGCATATCAGCCTTTATCACTCTGACTGGTTTCTTATCTATCAGTGGCGGGAAACTGGGGTGCCTGGTTGCCTTGGAGCCCTTGTAGTGAAACTTGTGGCAAAGGGATGCAGACAAGACTCAGACTCTGCAACAATCCTCCACCTTCATTTGAAGGGCCGTCGTGTGAAGGACCAGACACACAGACACAAGTGTGCAATGAAAGGAATTGCCCTGGTGAATGAATAGCGATAGAATTGACATTTACTTCTTATACAGATTTTTAAAGCACTGGCTTATCTTCTCTTCTCTTCTTCGACAGTGGATGGTAAGTGGTCATCCTGGGTAAGTTGGGGGGCTTGTAGTGTTTCTTGTGGAGGCGGTACAAGGCAAAGGACACGCATCTGTGCAAATCCCACACCCCAACATGGTGGACGGCAGTGTGAGGGAAATGACATCCACATTGACTTCTGCAACAATGAACCCTGCCCCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32306
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000020389 Essential Splice Site 4734 5616 92 107
ENSDART00000144705 Essential Splice Site 4652 5534 91 106
ENSDART00000148185 None None 289 None 5
Genomic Location (Zv9):
Chromosome 20 (position 34195968)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 34268481
GRCz11 20 34171360
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACGCAATGGTATAATGAACCAAGCAAAAACTACAAATGATCTCTCTTCAT[A/T]GTTCATGGAAACTGGGGCCCATGGAACAGCTGGGGCAGTTGTAGCAGAAC
Long Flanking Sequence:
TCAGTGGCGGGAAACTGGGGTGCCTGGTTGCCTTGGAGCCCTTGTAGTGAAACTTGTGGCAAAGGGATGCAGACAAGACTCAGACTCTGCAACAATCCTCCACCTTCATTTGAAGGGCCGTCGTGTGAAGGACCAGACACACAGACACAAGTGTGCAATGAAAGGAATTGCCCTGGTGAATGAATAGCGATAGAATTGACATTTACTTCTTATACAGATTTTTAAAGCACTGGCTTATCTTCTCTTCTCTTCTTCGACAGTGGATGGTAAGTGGTCATCCTGGGTAAGTTGGGGGGCTTGTAGTGTTTCTTGTGGAGGCGGTACAAGGCAAAGGACACGCATCTGTGCAAATCCCACACCCCAACATGGTGGACGGCAGTGTGAGGGAAATGACATCCACATTGACTTCTGCAACAATGAACCCTGCCCCAGTGAGTAAACAGATTTCAGACGCAATGGTATAATGAACCAAGCAAAAACTACAAATGATCTCTCTTCAT[A/T]GTTCATGGAAACTGGGGCCCATGGAACAGCTGGGGCAGTTGTAGCAGAACCTGCAATGGTGGTCAAATGAGACGGTACAGAACATGTGACAATCCTCGACCAGCGAATGGAGGCAGAGCGTGTACTGGATCAGACTCACAAATCCAGAAGTGTAACACAGCCAACTGCCCTGGTAAAGCAGTCATGCTGTACAAACAATACCTTTTAAAAGTTTGAAGGGATTTGTGGGATTTTAAAAGCTCTTTTAAAGTTATGTCATATAGTTCTCTTAAGTTAGATGTTTTAAAGTTGTCTCCAATACTCACAAACAAGTTTTAATGTAAGAAACAAAGTTTTTTAAGATAAAACAACAAAAAAACAATTGCTTCCCAAACTAATAAACTGTTTCATAGTGTTTGAAATACCACATGCTAGGGTTAAACAACGTAAATGCAGGAACGGCATAGATTAAAATTGGCTTTTTCAAACTGTAACTATATATGTACTGTAACTTACCAATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30717
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000020389 Essential Splice Site 4791 5616 92 107
ENSDART00000144705 Essential Splice Site 4709 5534 91 106
ENSDART00000148185 None None 289 None 5
Genomic Location (Zv9):
Chromosome 20 (position 34195794)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 34268307
GRCz11 20 34171186
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTGGATCAGACTCACAAATCCAGAAGTGTAACACAGCCAACTGCCCTGG[T/C]AAAGCAGTCATGCTGTACAAACAATACCTTTTAAAAGTTTGAAGGGATTT
Long Flanking Sequence:
GGTGAATGAATAGCGATAGAATTGACATTTACTTCTTATACAGATTTTTAAAGCACTGGCTTATCTTCTCTTCTCTTCTTCGACAGTGGATGGTAAGTGGTCATCCTGGGTAAGTTGGGGGGCTTGTAGTGTTTCTTGTGGAGGCGGTACAAGGCAAAGGACACGCATCTGTGCAAATCCCACACCCCAACATGGTGGACGGCAGTGTGAGGGAAATGACATCCACATTGACTTCTGCAACAATGAACCCTGCCCCAGTGAGTAAACAGATTTCAGACGCAATGGTATAATGAACCAAGCAAAAACTACAAATGATCTCTCTTCATAGTTCATGGAAACTGGGGCCCATGGAACAGCTGGGGCAGTTGTAGCAGAACCTGCAATGGTGGTCAAATGAGACGGTACAGAACATGTGACAATCCTCGACCAGCGAATGGAGGCAGAGCGTGTACTGGATCAGACTCACAAATCCAGAAGTGTAACACAGCCAACTGCCCTGG[T/C]AAAGCAGTCATGCTGTACAAACAATACCTTTTAAAAGTTTGAAGGGATTTGTGGGATTTTAAAAGCTCTTTTAAAGTTATGTCATATAGTTCTCTTAAGTTAGATGTTTTAAAGTTGTCTCCAATACTCACAAACAAGTTTTAATGTAAGAAACAAAGTTTTTTAAGATAAAACAACAAAAAAACAATTGCTTCCCAAACTAATAAACTGTTTCATAGTGTTTGAAATACCACATGCTAGGGTTAAACAACGTAAATGCAGGAACGGCATAGATTAAAATTGGCTTTTTCAAACTGTAACTATATATGTACTGTAACTTACCAATTGCACTTATGTTATTACCAAATACAGGGTGTCCACAGGGTGTTAAGAATTATTAAAAGTTGATAAATCAATGTAGAGAAATTTAAGGCCCTTAAAAAGTATTAAAAAGTCTTAAATGCTGTTTTGCAAGGTGTTAAATTTTATATCATTTTTTATTATGCATTGTGTGATTGGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43488
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000020389 Nonsense 5569 5616 107 107
ENSDART00000144705 Nonsense 5487 5534 106 106
ENSDART00000148185 Nonsense 242 289 5 5
Genomic Location (Zv9):
Chromosome 20 (position 34183386)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 34255899
GRCz11 20 34158778
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGTCGACGAAGACACGACTCTGCCCTTCGCCCTCCGGGATGAAAACCTC[A/T]AAGGTGTTCTGTTCACCACCCGGCCACTGCGCGAGCCTCACACATACCGC
Long Flanking Sequence:
CCAGAGTGTGACCTGTAACAAACAAAAATAAGGAAAATCATTTTGCATTGCTCACTTTTGCCTATGGACAGACATAGATGAATGCCTAGAGCAGAACATTCAGTGTGGTGCAAACAGGATGTGTTTCAACATGAGAGGGAGTTACCAGTGTATCGACACACCTTGCCCACCCAATTATCAGAGAGATCCTGCCACAGGGTGAGACGGACACTCCATTCTTTCAAATTGCCTACTTTTAGTTAGCTGATTGTTCAAAATCAAGATCTCAACTTCGTTGTAGGTTCTGCTTGAAGAATTGCCCGCCTAATGACCTGGAGTGTGCCCTGAGCCCATATGCACTGGAGTACAAGCTGCTGTCCTTGCCCTTCGGCATCGCCGCCAATCAGGACCTGATCCGATTGGTTGCCTACACCCAGGATGGAGTCGTCCACCCGCGCACTTCCTTTTTAGTGGTCGACGAAGACACGACTCTGCCCTTCGCCCTCCGGGATGAAAACCTC[A/T]AAGGTGTTCTGTTCACCACCCGGCCACTGCGCGAGCCTCACACATACCGCATGAAAGTGCGAGCTCTGTCTTACAGCGCCGACGGAGGAATAGAGTACCAGACCACCTTCATCGTCTACATCGCTGTCTCAGCCTATCCCTACTGAGCACTTTATTACGCCCACAGCCTAAGAAGAGAGGGACTGCTCAGAGGTTGCGCTATGAATCCATCATTTAATGGTTTACGAACACTTTCAGACATGTTAATGGTGGTGTCCTAAAAGTCAAACTAAAAAATTCAACTACATCTGTTAATATGAACCAGGAAAGAGATGCAAGAGATGATTTGGATAGAAAAACAACAGATTGCAAATGTATGCTAGCGGAATCATGTTGATCATTAAATCATGTGACTAGTTTGTGTGTATCTTTCACATTATGAACAGTAAAGGCCAAAAAAGTAAGACTTAAAGCCCTAAACTTTAGCGTGACCGTCCATTTAATTTCCAATGTGATTTTCA
Associated Phenotype:
Not determined