ZMP
LOC793448
Ensembl ID:
Human Orthologue:
TGM1
Human Description:
transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) [So
Mouse Orthologue:
Tgm1
Mouse Description:
transglutaminase 1, K polypeptide Gene [Source:MGI Symbol;Acc:MGI:98730]
Alleles
There are 4 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa19336 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa9842 | Nonsense | Available for shipment | Available now |
sa9467 | Essential Splice Site | Available for shipment | Available now |
sa19337 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa19336
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:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000041912 | Nonsense | 240 | 689 | 5 | 12 |
ENSDART00000041912 | Nonsense | 240 | 689 | 5 | 12 |
Genomic Location (Zv9):
Chromosome 23 (position 40510739)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 40284557 |
GRCz11 | 23 | 40247619 |
KASP Assay ID:
554-6203.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTCACACAGGTTAATGCCAATGATGACTCTGGTGTGTTGATGGGCAACT[G/A]GTCGAACTGCTATGCGGACGGGACTGCTCCAACAGCCTGGTGTGGCAGCA
Long Flanking Sequence:
CTACAGAACAAACCATCCTTATACAATAACTTGCCTAATTACCCTAACCTGTCTAGTTCACCTTAATAACCTAGTAAAGCCTTTAAATGTCACTTTAAGCTGTATAGAAGTGTATTGAAAAATATCATGTAAAATATTATTTACTGTCATCATGACAAAGATGAAATAAATCAGTTATTAGTAATAGGTTTCTAAAACTATTATGCTTAGAAATGTGCTGAAACAATCTTCCCTCCATTAAACAGAAATTGGGGAAAAAATTAAACAGGGGCGCTAATAATACAGGGGGGCTAATAATTCTGACTTCAACTGTATATATATATATTAGGACAATATGAGATGACTTATGTAGTGATGAGATTTTTGTCACATCGCCCAACCCTATCAGAAAGCCTGATGTATGTCTATCATGATGATGTTTGGATAGAGAACTGCTAACACTTACAACCATCTCACACAGGTTAATGCCAATGATGACTCTGGTGTGTTGATGGGCAACT[G/A]GTCGAACTGCTATGCGGACGGGACTGCTCCAACAGCCTGGTGTGGCAGCAGTGCCATCTTGAAGCAATACCACAAATGTGGAGGAGTACCTGTCAAATATGGACAGAGCTTGGCCTTTGCTGGAGTCACCAACACACGTGAGACATCTTTCAAAATGAACAAGGAGAAAAAAAATGGTCTTTCTAAATGTGATGCACTTCTATTCTTCTTATCTTCCTCTTAGTGTTGAGGTGTTTTGGTATTCCTGCTCGGCCGGTCACCAACTTCTGCTCTGCTCACGACACTGATGTGTCCATGACTGTAGACATTTATCTTGACGAGAACTATGACCTGATCGACAGCCTGAACCGGGACTCAATCTGGTAAGAGTCTGTGTAAATCTTTTTCATTCTGTTCTGTAGCATCAGCAATATATATTAATACCGTCTGTTATAGTACTATTACATTTTACATTTACATTATTAGTATATCATTATAATATATTATTAGCGACGCAGTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9842
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:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000041912 | Nonsense | 240 | 689 | 5 | 12 |
ENSDART00000041912 | Nonsense | 240 | 689 | 5 | 12 |
Genomic Location (Zv9):
Chromosome 23 (position 40510739)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 40284557 |
GRCz11 | 23 | 40247619 |
KASP Assay ID:
554-6203.1 (used for ordering genotyping assays)
KASP Sequence:
TCTCACAYAGGTTAATGCCAATGATGACTCTGGTGTGTTGATGGGCAACT[G/A]GTCGAACTGCTATGCGGACGGGACTGCTCCAACAGCCTGGTGTGGCAGCA
Long Flanking Sequence:
CTACAGAACAAACCATCCTTATACAATAACTTGCCTAATTACCCTAACCTGTCTAGTTCACCTTAATAACCTAGTAAAGCCTTTAAATGTCACTTTAAGCTGTATAGAAGTGTATTGAAAAATATCATGTAAAATATTATTTACTGTCATCATGACAAAGATGAAATAAATCAGTTATTAGTAATAGGTTTCTAAAACTATTATGCTTAGAAATGTGCTGAAACAATCTTCCCTCCATTAAACAGAAATTGGGGAAAAAATTAAACAGGGGCGCTAATAATACAGGGGGGCTAATAATTCTGACTTCAACTGTATATATATATATTAGGACAATATGAGATGACTTATGTAGTGATGAGATTTTTGTCACATCGCCCAACCCTATCAGAAAGCCTGATGTATGTCTATCATGATGATGTTTGGATAGAGAACTGCTAACACTTACAACCATCTCACACAGGTTAATGCCAATGATGACTCTGGTGTGTTGATGGGCAACT[G/A]GTCGAACTGCTATGCGGACGGGACTGCTCCAACAGCCTGGTGTGGCAGCAGTGCCATCTTGAAGCAATACCACAAATGTGGAGGAGTACCTGTCAAATATGGACAGAGCTTGGCCTTTGCTGGAGTCACCAACACACGTGAGACATCTTTCAAAATGAACAAGGAGAAAAAAAATGGTCTTTCTAAATGTGATGCACTTCTATTCTTCTTATCTTCCTCTTAGTGTTGAGGTGTTTTGGTATTCCTGCTCGGCCGGTCACCAACTTCTGCTCTGCTCACGACACTGATGTGTCCATGACTGTAGACATTTATCTTGACGAGAACTATGACCTGATCGACAGCCTGAACCGGGACTCAATCTGGTAAGAGTCTGTGTAAATCTTTTTCATTCTGTTCTGTAGCATCAGCAATATATATTAATACCGTCTGTTATAGTACTATTACATTTTACATTTACATTATTAGTATATCATTATAATATATTATTAGCGACGCAGTGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9467
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000041912 | Essential Splice Site | 642 | 689 | 11 | 12 |
ENSDART00000041912 | Essential Splice Site | 642 | 689 | 11 | 12 |
Genomic Location (Zv9):
Chromosome 23 (position 40521268)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 40295086 |
GRCz11 | 23 | 40237090 |
KASP Assay ID:
554-6204.1 (used for ordering genotyping assays)
KASP Sequence:
TTCCGCATTGARGGACTGGGTCTGAAGCACTGCAGATCCATCAACTATGG[G/A]TAGGAAATTGAGTGTTACATTATATGTGACCCTGGATCACAAAACCAAGT
Long Flanking Sequence:
TTCATGTTATAGTTGAGATTACGTCAAACACTGAATAAAAATACACATTTCAAAGCACTTCATGAAACCTTAACACTGTATTTGAATAGTTCTGATGTTGGGGTTAGGGATCAGGGTGATATTACAGACGCTCATCACAGCACTCAAAATTTACAATGGTAGAACAATCTGATAGGTAGTATATCTCATCAACAAAATGTGCTGCCTACTTTTTTAAAGGGAATGAGGGCAATCTGACAGGGTAGGGCAAAATTGACTGGCTCACGCTTAGTTTTTTATAATCTATTTAAAGCAGTGCTTATTATCTGGACTTTTGAAAGTGGTGTCTGTGGTGTAAATGTCGTTTGTGCTTTTACCTTTCAGCCTGGATGCGATTGTGTTGTGGGCAAAGAAGTGCCAGTCAAAATCACTTTCCAAAACCCACTGCCCTGCGTGCTGAAAAACGCCATCTTCCGCATTGAGGGACTGGGTCTGAAGCACTGCAGATCCATCAACTATGG[G/A]TAGGAAATTGAGTGTTACATTATATGTGACCCTGGATCACAAAACCAAGTCTTAAGTTGCACGGGTAAATTTTTGTGAATAGCCAAAAATACATTGCAGAGTGTAAAAAAAAAAAGGCAGATTCCACACAATTCCTTCATGTTGCCCCAACACAAATTGATTAAATTAACTTAATTGTTTTTACAAATTTAAGTGGATTAAACATAAACCAATTAAGTTGTCCCCCCGAAAAAACGTAAATATTGTGTTTTTAGGTCATTTTGAATAAGTAGTTTAAACAGATCTTGGCATTGTATGTTTTTGGCAGGAATAGTGTACATTAATTAGCTTTGCTGCAAATGCAACCGAGAAATAGCCAGAAGGCTATTTTCATCCTTATTATATCCTTTATACATCCTTATTATTTAAATTATTTTTCATATGTAAAGATATTTGTGTATTGCTCTACATCTTGTGTGTATTAAGCAGTGTGTAACCGAGGCGCACAACTAACGCGCTCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19337
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 |
---|---|---|---|---|---|
ENSDART00000041912 | Essential Splice Site | 642 | 689 | 11 | 12 |
ENSDART00000041912 | Essential Splice Site | 642 | 689 | 11 | 12 |
Genomic Location (Zv9):
Chromosome 23 (position 40521268)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 23 | 40295086 |
GRCz11 | 23 | 40237090 |
KASP Assay ID:
554-6204.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCCGCATTGAGGGACTGGGTCTGAAGCACTGCAGATCCATCAACTATGG[G/A]TAGGAAATTGAGTGTTACATTATATGTGACCCTGGATCACAAAACCAAGT
Long Flanking Sequence:
TTCATGTTATAGTTGAGATTACGTCAAACACTGAATAAAAATACACATTTCAAAGCACTTCATGAAACCTTAACACTGTATTTGAATAGTTCTGATGTTGGGGTTAGGGATCAGGGTGATATTACAGACGCTCATCACAGCACTCAAAATTTACAATGGTAGAACAATCTGATAGGTAGTATATCTCATCAACAAAATGTGCTGCCTACTTTTTTAAAGGGAATGAGGGCAATCTGACAGGGTAGGGCAAAATTGACTGGCTCACGCTTAGTTTTTTATAATCTATTTAAAGCAGTGCTTATTATCTGGACTTTTGAAAGTGGTGTCTGTGGTGTAAATGTCGTTTGTGCTTTTACCTTTCAGCCTGGATGCGATTGTGTTGTGGGCAAAGAAGTGCCAGTCAAAATCACTTTCCAAAACCCACTGCCCTGCGTGCTGAAAAACGCCATCTTCCGCATTGAGGGACTGGGTCTGAAGCACTGCAGATCCATCAACTATGG[G/A]TAGGAAATTGAGTGTTACATTATATGTGACCCTGGATCACAAAACCAAGTCTTAAGTTGCACGGGTAAATTTTTGTGAATAGCCAAAAATACATTGCAGAGTGTAAAAAAAAAAAGGCAGATTCCACACAATTCCTTCATGTTGCCCCAACACAAATTGATTAAATTAACTTAATTGTTTTTACAAATTTAAGTGGATTAAACATAAACCAATTAAGTTGTCCCCCCGAAAAAACGTAAATATTGTGTTTTTAGGTCATTTTGAATAAGTAGTTTAAACAGATCTTGGCATTGTATGTTTTTGGCAGGAATAGTGTACATTAATTAGCTTTGCTGCAAATGCAACCGAGAAATAGCCAGAAGGCTATTTTCATCCTTATTATATCCTTTATACATCCTTATTATTTAAATTATTTTTCATATGTAAAGATATTTGTGTATTGCTCTACATCTTGTGTGTATTAAGCAGTGTGTAACCGAGGCGCACAACTAACGCGCTCT
Associated Phenotype:
Not determined