ZMP
CLN6 (2 of 2)
Ensembl ID:
Description:
ceroid-lipofuscinosis, neuronal 6, late infantile, variant [Source:HGNC Symbol;Acc:2077]
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 is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa37974 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa37974
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 |
|---|---|---|---|---|---|
| ENSDART00000127656 | Essential Splice Site | 155 | 309 | 4 | 7 |
Genomic Location (Zv9):
Chromosome 25 (position 1383984)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 1248322 |
| GRCz11 | 25 | 1328967 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GACACTCAGAGAAAACCCCATTATTAAGAGCATCTCACCACACACACTGG[T/C]AAAACACACACACACACACACACACACACGCACACACACACACACTATAC
Long Flanking Sequence:
AGCATATGTTTTACACAGCTGATGCCGTTCTCAGTCTCACACTATTTTAACCTTTTCCTAAAGTCTTAACCCTTTTCTAAATCTCTTAAAGATACGTCTGTAATAACATGATTAGTTGGACTCTTCCATTCACTGCTCTGAATTTACCAACTACGACGACTTCTGTTGCGGATAAACTCGCAAATGTGAAAAGGCTCCAATGTGTGGAACTTTAGTTTTCCTAAATGTTGTGATTTTTGCCAATCCTAAGTGAGAGTTGTTCTTGACCACACTGGACATGAGAAGTGAATGATGTTTGTGTGTGTTTGAGCTGATGGAGCGCAGCCCGAAGACACTGCCGCGCTCCGCCATGTACCTGTGCATCATCACCTTCGTCATGGGCTCCAGCATTCACCTGCTCGGGGAATCCATAAACCAGCGGCTGCTGATCAGCGGATACCAGACACACCTGACACTCAGAGAAAACCCCATTATTAAGAGCATCTCACCACACACACTGG[T/C]AAAACACACACACACACACACACACACACGCACACACACACACACTATACACTGCAGAAATAAAAAATATAGGTAAAACACACACATGAACACACACACACAGACACCAGTTAATATTAAAATATATATTTAAATTATTTTAATTTACATATTTATGCATAAACATTAAAAAATATCTGTTTGTTTTTACCCCAGTGAATATAAACAAATTTTTTCCTGTTTTCTGACAGATCGACTCATTTGAGTTACTGCAGTATTATGATGAAAGTCTGGGCCTCTGTATGTGGTAAGCCTCGAAATATTTTACAATCTGCAGATTTATTTCACACTAATTAACCAAACGGATATGAAAATCATTTATTAGAAAAATCTGTATCACAAGAATGATTAAAGATAAAATAATGTGTTCACCCAAAAAGTTTTTTTCCCCCCTGTTGAACACAAAAGAAGATAATTTGCAGAATGTTGGAGACTATTACAAACTATTATGAGAGTCAATG
Associated Phenotype:
Not determined