ZMP
LOC100331644
Ensembl ID:
Human Orthologue:
TBC1D30
Human Description:
TBC1 domain family, member 30 [Source:HGNC Symbol;Acc:29164]
Mouse Orthologue:
Tbc1d30
Mouse Description:
TBC1 domain family, member 30 Gene [Source:MGI Symbol;Acc:MGI:1921944]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|
Mutation Details
This allele has been removed from public view.
Allele Name:
sa26204
Status:
Less stringent filtering
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For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000130588 | Nonsense | 619 | 1041 | 13 | 14 |
Genomic Location (Zv9):
Chromosome 4 (position 4360898)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 4 | 4479274 |
| GRCz11 | 4 | 4488187 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGGCGCAGGACGAGCCGAACACCAGGCTGCCATCAACAGCATGATGCTG[G/T]AGCGCATGAGCACTGACATCAGCGCCCTGAAGAAACAGTACTCGCGTATT
Long Flanking Sequence:
AAAACATATGCAGATTATGTCTGGTCCTGGTTATAATCTTCAGTTTCAGTACACATGAATAAATGGAAGATTTGGAGATGATCCGACACAAAACACCTCCGATGAAAATCAGTGTAATAATACTGGACACTTTTACTGGGGAATTAAGTTTTTAGTTACTACACTCTTAAAATCATTCTGCATAAATCCAGAGATTTTGTACAAAATTCTGTACAGAAATAACCCAAATAATATCAGCAGATTCTGCAAGGTCTTGGTTGAAATCTTCAATTTCAGTGCAAATGAATAAATGGAAGATTTAGAAATGATCTGATGCAAATTCCCCAGTTAAAGTGTCCATTAGTCTTACACTGATTTTCATCTGGAGGTTTTTTTTTTTTGGATGTGCAGATCAGAGAGCGGAGCAGAGCTGTAATGGCAGTAATATGGCAGAGCTCAGTCCCGGGGCGGTTGGCGCAGGACGAGCCGAACACCAGGCTGCCATCAACAGCATGATGCTG[G/T]AGCGCATGAGCACTGACATCAGCGCCCTGAAGAAACAGTACTCGCGTATTAAACAGAAACAACAGCAGCAGGCCGGACTGCTCTACATTCACACAGGTACAAACGTCATGCTGATATAACGAGCTTAAAGTCTGATTGATGTAATAAAAATAACTATTGGAGATGCACTGGTTTACAAAGAAGTTCATTTGACTTGATTTTTTTATATTTAAAAATAGTTGTAAAAAATCTAATGAAGAAAATAATTAATGAACAATATATAAAAGTAAATAAATGCATGTTTTTAATACATTTGCATTGTGTATTTTGCTATATATCTTTATACATAGCAATACATCTTTAACATGTTAGTTTTATTATACAGTATTTAATAGCTTTTTTTTTGGGGGGGGGGTTGTGGCTGGAAGGGCACCCGCTTCGTAAAAACGTGCTGGATAAGTTGGCAGTTCATTACGCTGTGGCGACCCCGAATTAATAAAGGGACTAAGCCGACAAGAAAA
Associated Phenotype:
Not determined