ZMP
tmem48
Ensembl ID:
ZFIN ID:
Description:
Nucleoporin NDC1 [Source:UniProtKB/Swiss-Prot;Acc:Q7SZC5]
Human Orthologue:
TMEM48
Human Description:
transmembrane protein 48 [Source:HGNC Symbol;Acc:25525]
Mouse Orthologue:
Tmem48
Mouse Description:
transmembrane protein 48 Gene [Source:MGI Symbol;Acc:MGI:1920037]
Alleles
There are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa14041 | Nonsense | Available for shipment | Available now |
sa13501 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa14041
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000025120 | Nonsense | 95 | 671 | 4 | 18 |
The following transcripts of ENSDARG00000021120 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 2 (position 26736215)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 26932411 |
GRCz11 | 2 | 26588045 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TAATTAACTTTTTTCTCTTCTCCCTCAAGTGGTTCCCTCAATTCCATGCT[C/A]GCGTGTGGCTCTTCTGGGRACGGTGCTTCACCCACTTCAATGTGTCCATT
Long Flanking Sequence:
GAGACCTTTAATAGAGATCACATGAGATGACAGAGGCTGTGCAATGAGCTAAAATGTTGCTAGTATGGGCAATGTGTATTGCATCACTGAAAATTATTAAGGTCCTGTCCATGTGTTGTGCGACTAATTGATATATTGATTTTTGTGATGGGCATATTTTCAGGAAAGTTTTATTATTAGGCCGATAATTAAAGAAATTCACATGCATATGGATCTGTAGGCTGTATTTAGTTAAGCTCTGAATGACTCTATTCAGCATCTCAAAACTTGTTTTCAGATTGCACAAATCTGCTTACGGCCTCCAGCACCATCTTTTCCCTGATGGTGCTGTGTGCCGTGGTTCTGATCACTGGCTTTTTCAACCTGGAGTTTTACACACGTGAGTAAACAAACTTGATTTGTCTTCACTTTTGGATTTTCAACAAGTATTGTATTTTAATACTAATCATTTAATTAACTTTTTTCTCTTCTCCCTCAAGTGGTTCCCTCAATTCCATGCT[C/A]GCGTGTGGCTCTTCTGGGAACGGTGCTTCACCCACTTCAATGTGTCCATTCTTTGGTTTACTCCTCCATGGGCATGCTGGTAATGTGGTGTGCTTCTGTCATCATCAGCGGACGTTACAGCACTCTTGGAACTCCCTGCATGCAAAACGAGAGGTGGGTTTTGACCTGATTCTACTTGTCCCACATACAACATGTCTAGTAGATTGTCTTTCAATAATTGCGTTCGTTAAATAATTTGTCGGCAAACCGAAGAGATTGAAATGCCTGTAGTTATCTTAAATTGTTTTAATTGAGTCTGTAATCCTATCTCAAAATTGCCAGGAGGTCAGTCTTAAATAGGCCAAGTGCACTTCTACAATGCAAATGAAATGGGTTCTCTGTCTGCAGTTTGGTTTTTTAATTTGTTGCACATTGTGACTTTTTTTATAACAAAGTTAATAATGAATGCTGTTTATTTTCTGTAGCGGTGACGTGCTGACCTGTCTGAACGAGTATCATCT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13501
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000025120 | Nonsense | 335 | 671 | 10 | 18 |
The following transcripts of ENSDARG00000021120 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 2 (position 26732422)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 2 | 26928618 |
GRCz11 | 2 | 26584252 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGTTTTTGGCTCTGCAAGACCTGGCTTTATTGTCACAGCATTCTCCCTCA[C/T]GAAGACAGGAGGTTTTCAGTCTGAGTCAGCCAGGTGCAAACTAAAACCTT
Long Flanking Sequence:
TATTCATTCATTCATTTTCTTGTCGGCTTTTTCCCTTTATTAATCCGGGGTCGCCACAGTGGAATGAACCGCCAACTTATTCAGCAAGTTTTTTACGCAGTGGACGCCCTTACAGCCGCAACCCATCTCTGGGAAATATATTTTGTTATATTCAGTATAATAAATTAAGTGATAACATTTAATATTGTATTAAAAACACAATGTTTAGTATAATAAATCTATACAATTTTATTTGAAATCACTGTAATACATTTTTCAAATAATTTGTAAAGATTTGTAAATATTCGGTGTCATGTAGTTATCAGTTCATTCAAAAATGCAGTTTTAACTTATGATATGATTTACAGACATAATTTATTTTCTGAAATGGTAATGTCTTGTAAATGTGTTTGTTAATAACTAAGGCTTATTGACAGATGATTTATATTCTTGTTTATGTCTTTTTGTTTCAGTTTTTGGCTCTGCAAGACCTGGCTTTATTGTCACAGCATTCTCCCTCA[C/T]GAAGACAGGAGGTTTTCAGTCTGAGTCAGCCAGGTGCAAACTAAAACCTTTCTAAAAACAAAAGTCTAAACTGTAAATTCCTTTTATGTCACTGGTAAACCAATGCAACCTATCTGTGAAGGTGGTCACCCTCATAACTGGAACGCCATCAGTGGGGAATGTCTGTGTTTACTGAGAGATTTGACCCAGAGACTGGTGGCTCATCAGGATGCAGTGGCCTCTAATGGCAGAGTCAAGTCTCAGTCTGCCAGCAGTGACACCAGATCAGCCTCTTCCAGCAGCTCAGGCAAGAAATCTTATATAACCTCTCACAATCTGCTCATTATCCTGTACCTCCCTCAGTGACCAACTAAAGGCTGATTTGATTTATTTATTCGCTCTTTCTTCTGTAGTGTTGTCAGGAATGGAGGATGTTCCTGAGACTCCTCGACCCACGGTTCCTCTAAGGACCCCTGGTTCAGTGTTTAAGTCTTCAGTTGGGGGCATGCACAGCTCACTGA
Associated Phenotype:
Not determined