ZMP
CHL1 (1 of 2)
Ensembl ID:
Description:
cell adhesion molecule with homology to L1CAM (close homolog of L1) [Source:HGNC Symbol;Acc:1939]
Human Orthologue:
CHL1
Human Description:
cell adhesion molecule with homology to L1CAM (close homolog of L1) [Source:HGNC Symbol;Acc:1939]
Mouse Orthologue:
Chl1
Mouse Description:
cell adhesion molecule with homology to L1CAM Gene [Source:MGI Symbol;Acc:MGI:1098266]
Alleles
There are 6 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa11246 | Nonsense | Available for shipment | Available now |
sa15944 | Essential Splice Site | Available for shipment | Available now |
sa10607 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa11246
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 |
---|---|---|---|---|---|
ENSDART00000111855 | Nonsense | 22 | 1253 | 1 | 28 |
Genomic Location (Zv9):
Chromosome 6 (position 44851051)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 44919291 |
GRCz11 | 6 | 44914926 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGAAAACCCTGCTTCTTTTGGCTGCTTGCCTYAATATGAKCAGCAGGTAT[C/T]AAACTAACGCCCTGGAAATTCCACTTGATGGTAAGTAGAAGAAATGGCTT
Long Flanking Sequence:
CTGCCACACATGCACTGACAAACAGTTTACAGAAATACAATTCACGTCTCCGGGGACTCGGTGATAGGGCGCTTTAATATGGAGATTCCTCTCACAGATGCATTTCAAGTAACTACAAGTTGGGTTAGACATTGAGGCGAGTTGCTCAGCAGGAGACATGCAGAATATGCAAGTCTTTGTGTCTGCGCAGGTGACAGGGTTGTTTTTTTCATATGAGATACCGCGGGCCGACTGTTAGCATATGGTTGCTGGGAAGTCTGGGTGTGCATGGCAGTGATTCTTGTTTGCCGTTGATGTCTGGTTGCCAATAAGATCTGTGTTGTGTTTGGTGCAGGTAGCGAGACCACAGCCTGGGTTGGAGTGAGATGCACTGACTCCTGGCAGACTGCAGATTTCCCTGTCATCCTCCGCTCTCGCCTCTGAAACTGTGGCCAGTCATGCGGTTGTTACGGAAAACCCTGCTTCTTTTGGCTGCTTGCCTTAATATGAGCAGCAGGTAT[C/T]AAACTAACGCCCTGGAAATTCCACTTGATGGTAAGTAGAAGAAATGGCTTCCTGTTTTATGCAGTATTAATCTTGCAATATATCTTAACTTTACATATCTGACCATTTTTAATGCTGTTTCAGTTTAATTGTTTCCCATGTGTTCAATTGTATGCTCTCTGGAATAACAATGAATTACAGAAGCCTGTTTTCACCTCTAGCCCATTTTTATAGTAAAGAAAAAATATTTTAAATAAGTCTCTGATATTCTTAAAGTGTGTATGAGAAGTTTCTGCTCAAAATATGACACAAATAATATTTTATAACACTTTGAATCTGCCCCTTTTAGGCTTTAATCCTAATCGTGCCATTTTGTGGGCTGTTGCATTAAATTAAAATTAGATTGTCTTATTTTCAAAAGAGGGCGGAGCTACAACTGCCTGTGCATCAGCATAGTAGCAGATTCAACAACAAGACTAATGTCCTATGCTAATGAGGGAGAGATCGTCACTAATAGGCGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa15944
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111855 | Essential Splice Site | 32 | 1253 | 1 | 28 |
Genomic Location (Zv9):
Chromosome 6 (position 44851083)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 44919323 |
GRCz11 | 6 | 44914958 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AATRTGAKCAGCAGGTATYAAACTAACGCCCTGGAAATTCCACTTGATGG[T/G]AAGTAGAAGAAATGGCTTCCTGTTTYAWGCAGTATTAATCTWGCAATWTA
Long Flanking Sequence:
AAATACAATTCACGTCTCCGGGGACTCGGTGATAGGGCGCTTTAATATGGAGATTCCTCTCACAGATGCATTTCAAGTAACTACAAGTTGGGTTAGACATTGAGGCGAGTTGCTCAGCAGGAGACATGCAGAATATGCAAGTCTTTGTGTCTGCGCAGGTGACAGGGTTGTTTTTTTCATATGAGATACCGCGGGCCGACTGTTAGCATATGGTTGCTGGGAAGTCTGGGTGTGCATGGCAGTGATTCTTGTTTGCCGTTGATGTCTGGTTGCCAATAAGATCTGTGTTGTGTTTGGTGCAGGTAGCGAGACCACAGCCTGGGTTGGAGTGAGATGCACTGACTCCTGGCAGACTGCAGATTTCCCTGTCATCCTCCGCTCTCGCCTCTGAAACTGTGGCCAGTCATGCGGTTGTTACGGAAAACCCTGCTTCTTTTGGCTGCTTGCCTTAATATGAGCAGCAGGTATCAAACTAACGCCCTGGAAATTCCACTTGATGG[T/G]AAGTAGAAGAAATGGCTTCCTGTTTTATGCAGTATTAATCTTGCAATATATCTTAACTTTACATATCTGACCATTTTTAATGCTGTTTCAGTTTAATTGTTTCCCATGTGTTCAATTGTATGCTCTCTGGAATAACAATGAATTACAGAAGCCTGTTTTCACCTCTAGCCCATTTTTATAGTAAAGAAAAAATATTTTAAATAAGTCTCTGATATTCTTAAAGTGTGTATGAGAAGTTTCTGCTCAAAATATGACACAAATAATATTTTATAACACTTTGAATCTGCCCCTTTTAGGCTTTAATCCTAATCGTGCCATTTTGTGGGCTGTTGCATTAAATTAAAATTAGATTGTCTTATTTTCAAAAGAGGGCGGAGCTACAACTGCCTGTGCATCAGCATAGTAGCAGATTCAACAACAAGACTAATGTCCTATGCTAATGAGGGAGAGATCGTCACTAATAGGCGGAGTTTTCCCTCTGATGACACATACAAATGGAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa10607
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000111855 | Nonsense | 795 | 1253 | 18 | 28 |
Genomic Location (Zv9):
Chromosome 6 (position 44884385)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 45042770 |
GRCz11 | 6 | 44947776 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGAAGAGGCACTCATTTCTGGTCAAAAACACCCCGACGTTCGTCCTTTA[C/A]GARATCAAAATTCAGGCCAAGAACCACGCGGGCTGGGGTCCGGACCCTAA
Long Flanking Sequence:
TTAATATTTTTACATATTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAAAATTTAATATAATTTTTATTTTGTTTTAATAATTTTTTGCAATATGTATGTTGTTGTTTTTTTTACAAAATTATTCTTACTCTTATACATACATACAAAATCAGCCAGCCTAATTATAAATGTTTTAATGATTTAAAATCAGGCTAATAGATTTATAATCTATTAATACATTTTACCCAAAGTATTAGTATTTAGAACAAGAAAACAACTAAATGTTATTTTCTTTTGATTTACTCTTTCCTGTCTTCTAACCAAGCTCTTGTTTTTCCTGTCACAGCCGTTGTCACCTATTGAACACAACGGGCCTGGTCTGGAGTACAAAGTGAGCTACAGGAGACATGGCAGCGATGAAGACTGGACGGAGCGCATGGTGAAGAGGCACTCATTTCTGGTCAAAAACACCCCGACGTTCGTCCTTTA[C/A]GAGATCAAAATTCAGGCCAAGAACCACGCGGGCTGGGGTCCGGACCCTAAAATAATAACAGCGTACTCGGGAGAGGATTGTAAGTAGAAACAACCTCCATTGTGCCTGAGCCGTGAAGATGAGTGTGCATTCAAATAAGCCAATACCGTTGACATTTCACTCACTGTCAAGCATCGCGCGTCGTGCCTGTGAGAGCATACAAAGTAGCACATTCTGAAAGATGCATTGTGGTTTCTAACCTTTTCTTCATCTGTAAAGGCTCTTGTTACGCCGCAAATAAGCAATGGCTGTAAATGGAAACACACCCACCCCTCCCTGTAGCGAAAGTGCAGTACATGTGTGATGAGAATATCAACAAACCTGGAGGGCAGAGAACAATGATGAAATAGCATCTTTGCTTTAATACACAATCTCCAAACGGCAGCGACTTGTTTAGCCTTATTGAGAATATTAAATGGAACAAAGTGGGAATGATTCTCCTCACTCTGAGTTTTCGTACA
Associated Phenotype:
Not determined