ZMP
cln6
Ensembl ID:
ZFIN ID:
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.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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.
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 |
---|---|---|---|---|---|
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