ZMP
CSGALNACT1 (2 of 2)
Ensembl ID:
Description:
chondroitin sulfate N-acetylgalactosaminyltransferase 1 [Source:HGNC Symbol;Acc:24290]
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 |
---|---|---|---|
sa7623 | Missense | Mutation detected in F1 DNA | Not yet available |
sa11541 | Nonsense | Available for shipment | Available now |
sa8459 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa7623
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:
Missense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000130358 | Missense | 39 | 412 | 1 | 7 |
Genomic Location (Zv9):
Chromosome 8 (position 704033)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 570633 |
GRCz11 | 8 | 636299 |
KASP Assay ID:
554-4162.1 (used for ordering genotyping assays)
KASP Sequence:
CTGCAGACCGGCTGGAGGACGAGTTTATGGTTCTGCCCTTYCAGAGMTTC[A/T]GTCTCCGCAGCGTCTGTCAGYTGGAGACCGGCCTYAGCAGACGACCARAG
Long Flanking Sequence:
CATCCCAAAAGATGGAGATCTGGAGCAGGATTTGCTGGAGCTCCAGGACCAGCACTTTCTGCAGCTCTCCACCAACCTCAGCAGACTCATACAAGGTTATTATAGAGCTGCATTTTAATATGAGTTCAGTAACACTTTAGTTTAGGTCACAATTCCTATCATTTACTACCTACTGGCTTATTACCTGCCTATCATTCAGATATTAACTGTGCAGGGTGTATTAGTAGCTAAAAACAGTACTATCTTATTCTGCATCTCTATTCCTATCCTAAACCGTCTTGTCACTCAGCCATCAACTCTGTCATCCATCAACTCTATTAACCATCAACTCTTCTGTCCTGATCTCAGAGCTGCGGGGCGAGCTGCGCCGGTCTGCGTTTGCTCTTCCAGAGGATCAGCAGGAGCTGCAGGATTTCCTCCATCAGCAGATCCTCCGGGCCGAGAGCAGATCTGCAGACCGGCTGGAGGACGAGTTTATGGTTCTGCCCTTCCAGAGCTTC[A/T]GTCTCCGCAGCGTCTGTCAGCTGGAGACCGGCCTCAGCAGACGACCAGAGGAGGCAGAGCTCAGACCTGACCGCAGGAATGAGCTGAACGAGGCTCTAGAGGCGGCGCTACACCTGCTGAACCAGCCGGAGCCTGGAGACTCACAGACCAGGAGGATTTACTCTCCCAAACACTTCTCTGAAGGTCAGAGACACACAGAGATACTGATTTCTGAAGCGCTTTCAAAAATAACATACTGATGCAATGCGATATTTACTTATGTACCTATAGGACATTTTTGGCAGAGACTGATTTAGACAAAAAACGTTGACCAATACCATATATGACACCAACTTTAACCTTCAGCTGGTACCAATACCAATGTTAATGATAAAAAAAACAAAAAAACATTGACCAATATCAATGTAATGTAAATGCAAAACATTTTCCCATACAGATTTACAAAAAAAAAAGAAACTTAATCTGGTACTGATACCAATTTTAATAAAAAAAAAAAAAAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa11541
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000130358 | Nonsense | 44 | 412 | 1 | 7 |
Genomic Location (Zv9):
Chromosome 8 (position 704050)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 570650 |
GRCz11 | 8 | 636316 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GACGAGTTTATGGTTCTGCCCTTYCAGAGMTTCWGTCTCCGCAGCGTCTG[T/A]CAGYTGGAGACCGGCCTYAGCAGACGACCARAGRAGGCAGAGCTCAGACC
Long Flanking Sequence:
ATCTGGAGCAGGATTTGCTGGAGCTCCAGGACCAGCACTTTCTGCAGCTCTCCACCAACCTCAGCAGACTCATACAAGGTTATTATAGAGCTGCATTTTAATATGAGTTCAGTAACACTTTAGTTTAGGTCACAATTCCTATCATTTACTACCTACTGGCTTATTACCTGCCTATCATTCAGATATTAACTGTGCAGGGTGTATTAGTAGCTAAAAACAGTACTATCTTATTCTGCATCTCTATTCCTATCCTAAACCGTCTTGTCACTCAGCCATCAACTCTGTCATCCATCAACTCTATTAACCATCAACTCTTCTGTCCTGATCTCAGAGCTGCGGGGCGAGCTGCGCCGGTCTGCGTTTGCTCTTCCAGAGGATCAGCAGGAGCTGCAGGATTTCCTCCATCAGCAGATCCTCCGGGCCGAGAGCAGATCTGCAGACCGGCTGGAGGACGAGTTTATGGTTCTGCCCTTCCAGAGCTTCAGTCTCCGCAGCGTCTG[T/A]CAGCTGGAGACCGGCCTCAGCAGACGACCAGAGGAGGCAGAGCTCAGACCTGACCGCAGGAATGAGCTGAACGAGGCTCTAGAGGCGGCGCTACACCTGCTGAACCAGCCGGAGCCTGGAGACTCACAGACCAGGAGGATTTACTCTCCCAAACACTTCTCTGAAGGTCAGAGACACACAGAGATACTGATTTCTGAAGCGCTTTCAAAAATAACATACTGATGCAATGCGATATTTACTTATGTACCTATAGGACATTTTTGGCAGAGACTGATTTAGACAAAAAACGTTGACCAATACCATATATGACACCAACTTTAACCTTCAGCTGGTACCAATACCAATGTTAATGATAAAAAAAACAAAAAAACATTGACCAATATCAATGTAATGTAAATGCAAAACATTTTCCCATACAGATTTACAAAAAAAAAAGAAACTTAATCTGGTACTGATACCAATTTTAATAAAAAAAAAAAAAACTAACCGACAACAATACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa8459
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000130358 | Essential Splice Site | 295 | 412 | 5 | 7 |
Genomic Location (Zv9):
Chromosome 8 (position 711067)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 8 | 577667 |
GRCz11 | 8 | 643333 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATCCAGAACTCCTCTACGGCCAGCACGTTCCTCCTGCTCAACAGCAGATG[G/A]TAAGAGCTCTTAAAGTCACTGTCAGCAGCCATGCTTCCATCCAAAGATGT
Long Flanking Sequence:
TCAACTCCTGCCGCATCAACGCGCAACCAGGTAGAGAGATTTTAGAAGAGAAATTGAACCAATTTGCATGGCTTCAAAGCTTTGAATATTTGTTATAATATGAACACAATGAAGGTCAGTTGGCGTTTCTGTGTGGAGTTTGCATGTTCTCCCCGTGTTGGCGTGGGTTATCTGTAGTAAAGATGACAAATTGTTCCTCTTCCTAACAAGAATGCATGATATGCCGCCATGGCTTTGCTATCAATACATGTGATTATAATGGAAGTCAATGGGGCAAAAACAGCACCAACAGAACCAAACTTGAAAAATACACAAGGGTTATATGGGTTAAAGTCAGTGTGTTTCATGTGATCTCAGACTGTTGGAGGTCATGCACTGAACTCTTATTGGTGTGTTTGTGCGCTGTCGCAGGTCAGAAGGTTTTCTATCCAGTGATGTTCAGTCTGTATAATCCAGAACTCCTCTACGGCCAGCACGTTCCTCCTGCTCAACAGCAGATG[G/A]TAAGAGCTCTTAAAGTCACTGTCAGCAGCCATGCTTCCATCCAAAGATGTAAATTAGATGTAATATCGCATTAAACATTTGAGAATAAAGCCGAGCTTCCAAACAAGAGTAGTAAATCATCAGTTTCATGCACTGATATCGCTGAGAGGAGTGTAGTGTGCGGCACTGTTGGGATTCTCCACTGTGCTGTTTGTTCTCCCCTAATAATTGAGCTGCGCATAAAGAAGACCAAGACCAAACGCAATGAACGAGGAGGCTTCTGGAGACGTGAGACGAGAGCGCAGACTGATGATCAAGACAGCTCTGGAGGGAATAATAATAGGAGAAGAACACTGAAGCACTGTGATGACGGACTGACAGAGGGCTGAGGCCTTTTACTGCACTCTAAAATTATTGTTTTGACAAAACAAAACAAAATTAATGCAACAGCTTGCATTAATATATTCAAGTTACGACAGCATCTAACAAAATGAGGTTCAGACAACAAACTTTATTATGTT
Associated Phenotype:
Not determined