ZMP
LOC793671
Ensembl ID:
Human Orthologue:
CSGALNACT1
Human Description:
chondroitin sulfate N-acetylgalactosaminyltransferase 1 [Source:HGNC Symbol;Acc:24290]
Mouse Orthologue:
Csgalnact1
Mouse Description:
chondroitin sulfate N-acetylgalactosaminyltransferase 1 Gene [Source:MGI Symbol;Acc:MGI:2442354]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa44720 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa21660 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa18977 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa44720
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000059322 | Essential Splice Site | 260 | 580 | 2 | 7 |
Genomic Location (Zv9):
Chromosome 10 (position 7358549)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 8376795 |
GRCz11 | 10 | 8335495 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGAAAAGCTCTCCTTTTCTTCACTGTAGTTGATGTGTTTTCTTTATTGC[A/T]GGGCTTGCGCGCACTGAGAAGGACAAGGGCTCTCTCTATGAGTTGACCTT
Long Flanking Sequence:
TTAAAACGAATATATCTTAAAGGAGCAATCACAATACAGTGAAACAGGAAATCGTGATATTTGTATCCAAGATTATCATACCGTCAGAACTTACCGGCCGATACCTAGTTCTGAGCTCAGGGCTCTCTCCCAGGACAGCATGCCAAACATGCCTTATTATCAATCATCAGCTAAGTGTGAACTCTTCAAACATAAGTCTTGTATTATCCCCCAGTAATACTCCAGGGTTTTTCCAATGAGTATTTCAATATAGAGCTCATAAACATCTGAGATAAAGAGCTATGAAATGCTGATTTCCTCTGTATTTTTGCAGTAGGAGATTTGTGGTCTCAAGGTGTGTTTTTTTCCTTCATTCTCCTGTCTGTGCACAACTGTGTTTTTATCTTTGTTGTATTTGTCCTTGAGCTTGAAATCCTGCATTACTTTGTGTGTGTGTGTGTGTGTGCTGAAGAGAAAAGCTCTCCTTTTCTTCACTGTAGTTGATGTGTTTTCTTTATTGC[A/T]GGGCTTGCGCGCACTGAGAAGGACAAGGGCTCTCTCTATGAGTTGACCTTTCGTGGTGAACACAAACATGAGCTCCGCAGGCTGGTTCTGTTTAGACCCTTCGGCCCCCTTATGAAGGTAAAGAGCGAGTTGGTGGAGACGAGCCACATGCCCATTAACATTGTGCTGCCGCTGTCCCAAAGGGCCGACAAATTCAGACAGTTCATGCACAACTTCAGGTAACCGTTCTGCTTCTCTCTGTTATCTCATTCATTCTCTTCTCCTCATTCATCCATTCATTTTCCTTCAGCTTAGTATTTATTTATCAGGGGTCGCCCACAGCGAATAGAACCGCCAGCAACTCTAACATATGTTTTACACAACGGATGCCCTTCCAACCGCTACCAAGTACCGAGAAAGTTATCATTCTCATCTTCCTAGAAATGATGTGGTTTGGGGTTGCAGTATTTTTTAAGAATTAAAGGCACAGATAATGTATTGTGAATTAAATGATTAAATGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21660
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000059322 | Nonsense | 365 | 580 | 3 | 7 |
Genomic Location (Zv9):
Chromosome 10 (position 7350307)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 8368553 |
GRCz11 | 10 | 8327253 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTTGGAAAGGACCAGATGAATGAGGTCAAAGGAACCTTAGAGAACACAT[C/A]GAGGTATGGCACATTAATGTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGT
Long Flanking Sequence:
GAATCGAAAATGTAATCGAATCGAGGATTTGGAAGATTGTGACACCCTTAATATATATATATATATATATATAGACATTTTTTATTGAGCCTCTTATTCAGCAGCAAAATGTATTCAGCAGATGTACCTTGAAAAAAAATAGCTGTATTAGAAGGAAGATCCCAGCAGTTGATTTAGTTTGAAGCATAGCGGGGCATTAATATCTCAGCTATGAATAATGAATTGGTTTTATTAAGAGCATGCCTTGGAACTATATATTTTGCACTCATTTCTCTTTTCTTAGTTTTCAGTCAATATAAATGTTTCACAAATGTTCATTTTGAGCTGGCACAGCAGGAGATTGTCCAGCTGAGCTCTGACCTTAGCGTGTGTGTTTGTTTTTCCTGCTGTTCTTGTCTACAGAGAGGTGTGTGTGAAGCAAGATGGACGAGTGCACCTTACCGTGGTTTACTTTGGAAAGGACCAGATGAATGAGGTCAAAGGAACCTTAGAGAACACAT[C/A]GAGGTATGGCACATTAATGTTTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGCGCGTCTGTGGAAGTGTCTGTATCCACACAAATGAACTGATAACGCTGAGGTTAAGACTGAGAAATTTACAGTTGAAGAAGAAGGAACCGGTGGGGTGTCATAAGTTCCTTTCAGTAAGCTCTTTCCCAATTCATAATGGGTTTTGGCCCAACTGTGGCTCTTTAAAGTGGTCAAGTGAGCACATTCTCTGCTACCAGAAAGGTTTTGTAGACAGAAAGCAGTTTTAACCAGCATAAACATTTCCTGTAATTTATAGATCAAGCAGGATTTCTAATGCCCATCTTCATGAATATATTAATATGCTGAACAAGTTGCATTAATAAAAGATGATGACGATATACTAAGTAATAATCAGATGCACAGAGTCAGCATGAATGTTTAATGGCACACAGTATTTGCATATATTTGTAAGTAGTTCAAATATGTACAGGGTATATATTCAGACCCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18977
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000059322 | Nonsense | 428 | 580 | 5 | 7 |
Genomic Location (Zv9):
Chromosome 10 (position 7329771)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 10 | 8348017 |
GRCz11 | 10 | 8306717 |
KASP Assay ID:
2260-2874.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCACATTGTCTTCCTCCTTGTTTTCTTTTTTTTTTTTTTTTAAGGAAAG[A/T]AAGTGTTTTACCCAGTCCTCTTCAGTCAGTATAACCCGGCTGTGATTTAC
Long Flanking Sequence:
TCTGCTTCAAATCAGAATTTACAATATTTATTTTGCTAGGTTACATTTTTATTATTAGGATTATTAAATAATCAATGCAAATTGATCTGGTAAAAACAATTGTTTTGGTACTCTTCAATCTGACAATTTGCTTTTGCTTTTAGAGTGATCCTTCTGCTAACGTCAACTTAAAGGCTTCCATAGTAACTGTATATCAATATTCTAACCACAACCCCCTTACCATTAGTTCGCTATGAGAAAATGATGCAGAAAAGAAAGCCCCACCCCCTACTCAATATTCAGTTTCAGTTGTGAGTACATCAACATACTGAAACGAAGTCTCATCAACTTCCAGTTCACTCAGACTCTTATATTCAAATTAATGATTCATTGATTGATTGTTTACTTGATACAAATTTATACATTCAAATGGGGAATATATGTTCTGCTTTTAGCATATCCAGCTGTATGATCACATTGTCTTCCTCCTTGTTTTCTTTTTTTTTTTTTTTTAAGGAAAG[A/T]AAGTGTTTTACCCAGTCCTCTTCAGTCAGTATAACCCGGCTGTGATTTACGGCAGTCACGATCACGTCCCACCTGTGGACCAGCAGCTGGTAACGCAACTCATTTCATCTGGAGATTAAAATGCTTCATCAGGTTTGATGTGATTAAATGCTGCGCTGCGATGGGAAACATAATCACCACAGTCGTTTGGCATTGATATTCTGAACATGTAGATTATAAAGAGCCTGATTGAATGTGCCGATAATGCGCAAAGCTGACATGAGACATGAGGACCAAATTACTTTTTACCACAGCTGCCATACCTGATTGAATTGGGGGAAATCAATTAGTCTAAATCTTTCGTACTGTAATTACAATAATTAAGTTTTGCAACATTGAAAGGGCCATGAAACCCCCTTGTTTCAGCAGGGTGTTTTCACGCCTCTACTTTGGAAAAAGTCAGAAAAGTGAGCGTGTCCACCTCTGTATAGGGGTGAGTGTCGGAGGAAGAAAAGAGGCTT
Associated Phenotype:
Not determined