Busch Lab

ZMP

cln6

Ensembl ID:
ENSDARG00000077584
ZFIN ID:
ZDB-GENE-041010-57
Description:
ceroid-lipofuscinosis, neuronal 6, late infantile, variant [Source:RefSeq peptide;Acc:NP_001005982]
Human Orthologue:
CLN6
Human Description:
ceroid-lipofuscinosis, neuronal 6, late infantile, variant [Source:HGNC Symbol;Acc:2077]
Mouse Orthologue:
Cln6
Mouse Description:
ceroid-lipofuscinosis, neuronal 6 Gene [Source:MGI Symbol;Acc:MGI:2159324]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa10876 Nonsense Available for shipment Available now
sa904 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa10876
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109872 Nonsense 6 298 1 7
Genomic Location (Zv9):
Chromosome 7 (position 35942679)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 34216659
GRCz11 7 34488136
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATAATAAATAGCTATAAAGAAGATATCGATTAACCATGCGGAGAAGACCA[C/T]AGTCTGCAACTTTCACATCGGCATTTCTGAGGTAACGTTAACGTTATGGT
Long Flanking Sequence:
ATTAAATTAACAGAAAAATTATAGTAAAAACATTTTAAAGAGTAATTGCTCAAGTAATTCAAAATTTATGCAATTTTATTGCACATGGTTTATAAAAAAATAAATATGTAAATATATTAATTAAAGTAAATATTATATGATTTTATCTATTTTGCAAGCTGGTGAACAGTCCGAAAGATGGCAGTAAGAGCACTACACGTTACGCTTCGCCAGTAACTGAAGAAGAACCGGTCAAAACATCACGTGATTCAAATAAACAAGGATAAAAACATTTAAGGAAGTGCAGAAATATCTATATTTTGAAGGAAATATTTTGCAGAAATATTTTGTATATTGGGGTATAGTCGAACACAAATGTATTTAGCCTTTTCCTGCTTCTGTGCTGTAACGTTATCTGGCATGTGACTGATGGATGAATGAGCTGGCTACTAAACTATAGTAAAGCCTCCGATAATAAATAGCTATAAAGAAGATATCGATTAACCATGCGGAGAAGACCA[C/T]AGTCTGCAACTTTCACATCGGCATTTCTGAGGTAACGTTAACGTTATGGTTATGGCTATTTCCTATGGCTATTTCCTGTGTTATTATCAATGTCGTTATTTGCAGACGAATGCGTAAACTTAAGATTTGAATGTTGTATATAATGTAACATATAGAGTTGTATATATTGCAACAATTTAATAATGTAGCCTTATATTATTACTCGAAAACCCTATCAGTCAGGATGTTTGCTGGGCTATCAAAGTTGTCATTTGGCTAACAGCTCGAAAGCCAAGAATAATATTTAATACACAAATTATAATTCAATATTCATGATGAAAAAACAAGATTTGTATAAAAGCAGGGCAGGAAGTGAGAAGACTACAGCAGCAGCCACACCACGCTCCCAGTTTCACACAGATCTATGGCTCTGTTTCACTGTGCAAAACTGGATACTGGACTTTGGAAGGCCAATCGCTATGGTATAAGTTAAAACAAGGTGTTATATACATTTAAGAGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa904
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
ENSDART00000109872 Essential Splice Site 210 298 6 7
Genomic Location (Zv9):
Chromosome 7 (position 35945460)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 34219440
GRCz11 7 34490917
KASP Assay ID:
554-0811.1 (used for ordering genotyping assays)
KASP Sequence:
TGAGCACCTCAGGTTGGCTGCTGCTTGGCCCCAGCGCTGTGTATTATTGG[T/C]AAGTCAGCTATTCACATCAGTTGGTAGCATTTTCTTTAAGAGATAGAATT
Long Flanking Sequence:
TTGAACATTAACTTTCAAATGATTCGTTATGTAAACATCTGAGGAGAGAAATGCAGAAATATGGATGTGCAACAGTGTTCATTAAGTACACTGACAAAGAGAGCTCCAACATGCTGGTAGTTAAGAAAACACATGCAAATATAAAAAAAACTCTAACAAATTGAGGAAACCTCTTCATCAGTTTGACAATACATGCAAGTCAATTCTCACAACACTTGCTAATTTAGTAATACACTGCAATTAGCACAGACCACAAATAGATATGTATCAGGGGACCCTCAAAAGCTGTTTAGAGTCAGCAGTAATTAAAATTTAAATAGATTTTTGTCAATTCTTTTATTATTCTGAGGTTTAAACATCTCCTTCTTCACCATTCTAGGTATATCCCATTCTTCCTCATCATCTTCTTGTATTTCACTGGCTGCTTTACACAAGTTAAAGATGAGAAGATGAGCACCTCAGGTTGGCTGCTGCTTGGCCCCAGCGCTGTGTATTATTGG[T/C]AAGTCAGCTATTCACATCAGTTGGTAGCATTTTCTTTAAGAGATAGAATTTCAAGTTCATGTGAATGAACACAATCAATATAAAAATACAATATGATTTGAATCTTGAAAACTTGAAACTGTATTTTTACAAACCCAATCTTTGCAGTCTGAATTCAGAACAAAAATAAGTTTAAAAATATGTCTATAAAAATCTGACAATTTAAATGTTAAAAAATTCAAAACATTTTTATCGGCGAATAATATTCTGTTTTATGAAATTACTATTGGTAATATTTTACATTAACACAATTCAAATTCAGACTGTTTCAGCGTATTTTAAGCTCCATAAATCAAGTCCTTATGTTTCTGCAGTGTGAAATATTTCCAAGTGAAAGCAAATATTCTACAATACATCAGACTCATAGGTTAAAACATTAAAGGTGCTGTGAAGTGCTTTGAAATGTGCATTTTTATCAACCGCAACACAAAGAGAGGGTTGGACATAGAGTAGCTCCTCCC
Associated Phenotype:
Not determined