Busch Lab

ZMP

si:dkey-119f1.1

Ensembl ID:
ENSDARG00000058719
ZFIN ID:
ZDB-GENE-070705-287
Description:
structural maintenance of chromosomes protein 6 [Source:RefSeq peptide;Acc:NP_001121806]
Human Orthologue:
SMC6
Human Description:
structural maintenance of chromosomes 6 [Source:HGNC Symbol;Acc:20466]
Mouse Orthologue:
Smc6
Mouse Description:
structural maintenance of chromosomes 6 Gene [Source:MGI Symbol;Acc:MGI:1914491]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa19667 Essential Splice Site Available for shipment Available now
sa14490 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa19667
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
ENSDART00000081633 Essential Splice Site 165 1090 4 26
Genomic Location (Zv9):
Chromosome 2 (position 6010893)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 6456621
GRCz11 2 6368503
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGAATTTCCAGTGAGGGAATCCGAACGTACAAACTTAAAAGCCACACCGG[T/C]ATGCCTACAATTACACTAACGGTTTATTTTTGGGTAGCTTTAAGGGATAG
Long Flanking Sequence:
TTGTTGTTCCTAAAACTTGGATAGGCGACAAGACTTTAGTCAGGTAGTGATATGAAAACAAGCTATTATGTGTTTTGTAGAAGCTGGCATGCATGACCACAAATTATTTCTTTTGAATTTTGTGTATAATTGTTTGGTGTGTATTTGTGTGTTAGGTGGGAAAAGTGCCGTGCTGACAGCTCTGATTGTAGCCCTGGGCGGTAAAGCTCTCACCACCAACCGAGGCTCCTCTCTCAAAGGATTTGTTAAGGAAGGAGAGAGGTACAAACACACCCATCCTGTTTTTCCCTGCATGTAACCACAGTCTGTATTTAGTCTCTCACACTGTTTAATTTGTGTGTGTGTGTGTGTTTAATAATCAGCTCTGCAGATGTGTCCATCACGCTGAGAAACAGGGGTCGTGATGCGTACAAACCGGAAAAGTTTGGCCAGTCCATTGTGGTTGATCTTCGAATTTCCAGTGAGGGAATCCGAACGTACAAACTTAAAAGCCACACCGG[T/C]ATGCCTACAATTACACTAACGGTTTATTTTTGGGTAGCTTTAAGGGATAGTTCACCCAAATAGCAACATTTTCTCTATTTTTACTCGCCCTCTTGGGGTTTCAAACCTTTATGAGTTTCCTTTTTCTGTTGAACCCAAAGGAGATTTTTTTAAGAAAGCTAGAAACCTGTAACTAGGGGGCTAATAATTCAGGAGTGCTAATAATTCTGACTTCACTTCTATATTCATGTGTATACAATAATAATAATAATAGTAATAATTCCTTACATTTATATAGTGCTTTTCTGGGCACTCAAAGTGCTTTACATAAAGGGGGTAATCTCCTCATCCACCACCAGTGTGCAGCATCCACCTGGATGATGCGACGGCAGCCATTTTGCGCCAGACCGTACACCACACACCAGCTGATTGGTGGAGAGGAGACAGAGTGATGAAGCCAATTATGATATGGGGAGGGTTAGGAGGCCAGTGGGCAGATTTGGCCAGGATGCCAGGGTTAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14490
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
ENSDART00000081633 Nonsense 1019 1090 24 26
Genomic Location (Zv9):
Chromosome 2 (position 5968554)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 6414282
GRCz11 2 6326164
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGCTTCGTCCTGTCACTGTGGGAAATTGCTGAAGTTCCTTTCCGTGCCT[T/A]GGATGAGTTTGAKGTCTATATGGTACAAAAAAACAAAAATAACCTGGTTA
Long Flanking Sequence:
GTGTGCGCCATCACATGCAAGGTTTTTGTATTTATAACCACCTCAGAGGATATTGGGGGTCATTTTGGGGGTCGCAGGCAGAAAAGCTTGGGAACCCCTGCTTTAAATAAAGTTTATTCAGCAATAATTCTCCAGAACTGATAGCAGATCCTTAAAATGGCTTGAGCCCTTAAAATCATCCCAAATTCTCAAATTTGAAACTTAAATATATTTTGAGAAAATGAAGGGTGAGTAAATGATGACAGATTTTAAATTTTTGGGTGAATTTACAATCATATTTTATAATTATAAATTGTGGTCTTTTTGCACCCTTGACACAATGCTTTTTTTTTTTTTTCGTGATGATGATTATGTGTTTTTTTCCCTTCAGGTTCAGCCAGGAGAGGGTGGGAAGGCTGATCTGAGTGACATGCGTTCGCTATCTGGAGGAGAGCGTTCGTTTTCCACCGTGTGCTTCGTCCTGTCACTGTGGGAAATTGCTGAAGTTCCTTTCCGTGCCT[T/A]GGATGAGTTTGATGTCTATATGGTACAAAAAAACAAAAATAACCTGGTTAGACTGTATCTCGCACAGCAAGTGTGTATTGTGTGAAGACTTGTATTCTTTAGAACAGTGGTTCTCAATTCCAGACCCCCCATCCTGCACATTTTGTATGTCTCACTTACTCGACACACAAGGATCAGTTCAGGAATCTCTCCTTTAACGAGCTGATGATCTGAATCAGGTGTGTTAAAGAGCCATGACACCCCCCACTTTCAGTTCAGGTTCACCTTAGATTTTTTTCAAAAGATGCATCATTATGGGCGTGGAGCTCCGAGCAAAGGGCAGGGGTGGGCGTGGCCAGTGGAGGAGGCGAGGAGGGGAGCGAACAACTGGTTGTCAGTCGGCTCACAAAATTGATGACCCATGATTTAATAGTTTACAAAGTTAAAATGCAAAGAAATAAACAGTAATTTAAATGCTACATTTGTTATTCGTAATTTGATATACAGATAACCACAATTTA
Associated Phenotype:
Not determined