ZMP
LOC571725
Ensembl ID:
Human Orthologue:
MCTP1
Human Description:
multiple C2 domains, transmembrane 1 [Source:HGNC Symbol;Acc:26183]
Mouse Orthologue:
Mctp1
Mouse Description:
multiple C2 domains, transmembrane 1 Gene [Source:MGI Symbol;Acc:MGI:1926021]
Alleles
There are 6 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa10830 | Nonsense | Available for shipment | Available now |
sa18034 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa10830
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 |
---|---|---|---|---|---|
ENSDART00000113985 | Nonsense | 41 | 726 | 2 | 21 |
Genomic Location (Zv9):
Chromosome 5 (position 52322239)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 49989435 |
GRCz11 | 5 | 50636028 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CRAACTTCCTCCRTTGCCWAAGCCAAGGATGTATCAGCTGGACATTRTGT[T/A]GAAGAAGGGCAATAATCTGGCCAWYAGGGACAGAGGAGGTATGTGCTCCA
Long Flanking Sequence:
CTATAACTGCTTAAAGTATCTTAAATGAAATGTTATTATTGAAGTCATACTTTATTTTGTGGTGCTTCGCATTTTATGTAGTTTTAATGTGGTTCCCTTGGCCTCTGAACATGAGTACTCCGGCCTTAGAAGAATCATAATCAGTTCTTAAAATCATTATTTAAGGAAATTTTAATGATCTGAAAACTCTTTTCCTTTGTAAGGAGAAATACAAAAAAAATCTATGGATGTTAAAGGTTATTTATGAGCCATTGATGTCAACAAAGAGCTTTTTTTTTAAAGAGTGTTAATGTACCAAAGTGTAATAACTAGAGTTTTCCTAAAAATACACACTGAACTGGTTTGCTAGAATGAGCTTGATATTGTATCGCATGCTCATAGCCCTGTCTGACCACTTGATTGTTTTCCTCTGTTCCTGTAGGGCATCAATATTGTGGAGCCAAGTAATGACGAACTTCCTCCGTTGCCTAAGCCAAGGATGTATCAGCTGGACATTGTGT[T/A]GAAGAAGGGCAATAATCTGGCCATCAGGGACAGAGGAGGTATGTGCTCCATTTACAGTATCTAACCTGTTGTTGCTCAATGTTCTTAATTGTATTTTTTATATATATTTATATATATAATTCTAAAATGCATGGCGCTGCGTGGCACTACGCGGTGCCGAGTGGCGCTTCTGGTGTGCGACCTGCTTAAGGCTCTCTGCCTGCGGCCTCGTGCCAACGCATGCCTCCCACCAGTGCCGATATACAGCCATATCGCACTGCGACTCGTGTGATATTGCTCATATATATATATATATATATATATATATATATATATATATACAACAAATATTTACAATTTCTGAGAGAGCTCGTCGGCGGCCAAAGACGGTTGACGTTGTCTATCCACAAGATGGCGCCAGGTCCGCATAATAAGCCCTTGCTTAGTGTTTTTTCTTGAGCGCAAATAAAAAGCTGAAAAACGGAAGCCTCGTTGTTTTTGAGGTGGACCGGATAGAATTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18034
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:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000113985 | Essential Splice Site | 233 | 726 | 7 | 21 |
Genomic Location (Zv9):
Chromosome 5 (position 52268665)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 49935861 |
GRCz11 | 5 | 50582454 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGACCCTTATGTCAAATTCAGAMWGGGACATCAAAAGTACAAAAGTAAGG[T/A]ATGGGYCATGAGCTGTATTCCAGTTACTTGTTCTATAGAGAATTGCTCTT
Long Flanking Sequence:
TTTCTGGTCCTAAAATATTGACAGTATGATAAATTAATGGACGCTCTGGTTTTATAGATGGAAGGATACCGTCGGCACACTTTTTTCTGTGTTTGCCGTTGTCTGTGTCTGTTTTTTGCAGTGCTGTGCATTCTCTGTATGTATATTTTCCTCACCTTTAATGCCCCCAAGTTGTTCCATGTTGCTGAACTTGACGCATATCACATTTTTGGCAACAAATGCATCCTTTGCCATTCACTGGATCTCCTGAGTCATTTTACCGTCTTTCTCTTTACGTTGGATTGTTTTCCTGATACGAGTTTGTGTCTGGGTGTTTGTTTGTGTCACATTGCAGCATCAGAGTCTGAGGTTATCAGACGTTCACAGAAAATCTCAGCTGTGGAGAGGCATTGTTAGCATCAGTCTCATCGAGGCACATGACCTCCAGCCAATGGACAACAATGGCCTTAGTGACCCTTATGTCAAATTCAGAATGGGACATCAAAAGTACAAAAGTAAGG[T/A]ATGGGCCATGAGCTGTATTCCAGTTACTTGTTCTATAGAGAATTGCTCTTTTGTTTGAGGTAAAATGCTGATCAAATGTGCACATTTTATGTCGTGCAGACGATACCAAAAACACTAAACCCCCAGTGGAGAGAGCAGTTTGACTTCCATCTCTATGATGAACAGGGTGGTTTTGTTGACATCACTGTTTGGGACAAAGATGCAGGGAAGAAGGATGACTTCATGGGCAGGTTGGTCATGCATTTGAATTCATATATATTTATATAGTAGTAAAATAAACATTTTATAGTTTACAGTGCATGCATTACAAACAATAGGCTATTATTTGACATTATTAACCTGACTTTATTCTTCATATGATCTTCAATAGTACTAAAAACAATTTGACTGAATTTTTGTTTTCCAATTTTTACATGAATAATCTGTAAATATTATTGTAAAATTATGTGTTGCTCTCTGAAAATGCAAAAAATTTCCTTTAAAAAACAGAAAATTAACAT
Associated Phenotype:
Not determined