ZMP
LOC571108
Ensembl ID:
Human Orthologue:
TULP1
Human Description:
tubby like protein 1 [Source:HGNC Symbol;Acc:12423]
Mouse Orthologue:
Tulp1
Mouse Description:
tubby like protein 1 Gene [Source:MGI Symbol;Acc:MGI:109571]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa40800 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa16810 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa40800
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 |
---|---|---|---|---|---|
ENSDART00000112344 | Essential Splice Site | 33 | 409 | 3 | 11 |
Genomic Location (Zv9):
Chromosome 6 (position 54503100)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 54539834 |
GRCz11 | 6 | 54547942 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTGACCTATCAAATTGATTTATTGTTTGTTGACTGTATTTGATTATGAA[G/A]ATGCCAAAGAGGATGCAGACAGTAAAGGAAAATCTAAAACCAAGAAGAAG
Long Flanking Sequence:
CCTACTAATGTGATTCCATTACTTTGTGATTTTTTTTCTTCTGTTGAACACAAAAGAGGATATTTTAAAGAAAGTTGAAAACCTGTAACCATTTACATTTAGTCATTTAGCAGACGCTTTTATCCAAAGCGACTTACAAATGAGGACAAGGAAGCAATTTACACAACTAAGAGCAACAATGAATAAGTACTAAAGGCAAGTTTCAGGTCTGTAAAGTCTAAGAAGGGAAGTATTAGTAGTATTAAATTTTAATTTTTTTTTGACTTCCATAGAAAAACCATTGACCATTGACTTCCATAGAAAAAACAACTACTATGGAAGTCAATGGACAGGTGTCCAGCATTCTTCAAAATATCTTCTTTTGTGTTTAACAGTAGACAGAATCTCATGAAGGTTGAAACAAGTAAAGGGTGAATAAACAATGACAGAATTGATAGTTTTGGTTCAACAGTTGACCTATCAAATTGATTTATTGTTTGTTGACTGTATTTGATTATGAA[G/A]ATGCCAAAGAGGATGCAGACAGTAAAGGAAAATCTAAAACCAAGAAGAAGGAACCCGCCTCCATGTTTCAGATAAATGGAGAAAAGCCTGAAACCAAGAGTAAAAAGAAAGGTAATGTTTGAGAACTTTTCTCTATGCGTGTCTGTTTTATGATTCAGAATATTATTTGCGTTTGATAATGTGGCTTGACGCAGCGGCCAAATCCGAGAGTGAAGAAGAGAGCGAACCCGAAACCAAAACTAGCAAGACCAAGAAGAAGAGCAGCTCAAACACAGCCTCCATGTTTCAGACCGGAGGAGACAAAGACAAGGACAAAAAGACAAAAAAGACCAAAAGTAAGGCCTGGTCCTTTATTAACCCGTAATGGACTCTTTTCATAACATAACGATAATGAATTTAATGGACACCAAAATCTTTAATCCTTGAAAGTTTTTAAGATTTAGATTTTTTTTATGCATGTACATTTATAAAGTTATACTTCCTATTATATCATCTATTCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16810
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 |
---|---|---|---|---|---|
ENSDART00000112344 | Essential Splice Site | 69 | 409 | 3 | 11 |
Genomic Location (Zv9):
Chromosome 6 (position 54503212)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 6 | 54539946 |
GRCz11 | 6 | 54548054 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CATRTTTCAGATAAATGGAGAAAAGCCTGAAACCAAGAGTAAAAAGAAAG[G/A]TAATGTWTGARAACTTTTCYCTATGCGTGTCTGTTTTAWGATTCAGAATA
Long Flanking Sequence:
GACGCTTTTATCCAAAGCGACTTACAAATGAGGACAAGGAAGCAATTTACACAACTAAGAGCAACAATGAATAAGTACTAAAGGCAAGTTTCAGGTCTGTAAAGTCTAAGAAGGGAAGTATTAGTAGTATTAAATTTTAATTTTTTTTTGACTTCCATAGAAAAACCATTGACCATTGACTTCCATAGAAAAAACAACTACTATGGAAGTCAATGGACAGGTGTCCAGCATTCTTCAAAATATCTTCTTTTGTGTTTAACAGTAGACAGAATCTCATGAAGGTTGAAACAAGTAAAGGGTGAATAAACAATGACAGAATTGATAGTTTTGGTTCAACAGTTGACCTATCAAATTGATTTATTGTTTGTTGACTGTATTTGATTATGAAGATGCCAAAGAGGATGCAGACAGTAAAGGAAAATCTAAAACCAAGAAGAAGGAACCCGCCTCCATGTTTCAGATAAATGGAGAAAAGCCTGAAACCAAGAGTAAAAAGAAAG[G/A]TAATGTTTGAGAACTTTTCTCTATGCGTGTCTGTTTTATGATTCAGAATATTATTTGCGTTTGATAATGTGGCTTGACGCAGCGGCCAAATCCGAGAGTGAAGAAGAGAGCGAACCCGAAACCAAAACTAGCAAGACCAAGAAGAAGAGCAGCTCAAACACAGCCTCCATGTTTCAGACCGGAGGAGACAAAGACAAGGACAAAAAGACAAAAAAGACCAAAAGTAAGGCCTGGTCCTTTATTAACCCGTAATGGACTCTTTTCATAACATAACGATAATGAATTTAATGGACACCAAAATCTTTAATCCTTGAAAGTTTTTAAGATTTAGATTTTTTTTATGCATGTACATTTATAAAGTTATACTTCCTATTATATCATCTATTCATCAAATTACAAAAAACGAAATATGTGAGGTGTTTGTGATGCCGCAGTCACACTAGAGTTTAAGCATTTGAAATTCTGTCGTATGCTGCTGCGAAAGGGGGCGGGTTTAACAA
Associated Phenotype:
Not determined