ZMP
mkks
Ensembl ID:
ZFIN ID:
Description:
McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin [Source:RefSeq peptide;Acc:NP_956459]
Human Orthologue:
MKKS
Human Description:
McKusick-Kaufman syndrome [Source:HGNC Symbol;Acc:7108]
Mouse Orthologue:
Mkks
Mouse Description:
McKusick-Kaufman syndrome protein Gene [Source:MGI Symbol;Acc:MGI:1891836]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa22346 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa22346
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 > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000011583 | Nonsense | 224 | 563 | 2 | 5 |
Genomic Location (Zv9):
Chromosome 13 (position 35696499)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 35349075 |
| GRCz11 | 13 | 35474907 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATCTGTGAACCATTCTTCAGTTTTTCCTGGACTGCTGCTGGATGTTCCT[G/T]AGATGCTCCTGCCTGGAGATCTCGAAAGACTGGGAGATGGTCCGTTTAAG
Long Flanking Sequence:
CTTCAACCTCAACAGCGCTTCTCAAACGACTAGAAATGTCTGAGCCGCTTCTCAAACTGATCTCAACTGCTCTTCAACATCACACCACACGTTACAGTGACTCAGGGCTGTTTATGGGGATTTTTACACTCACACTTATTGAAAACACCAAAAAATATGGGCTTAGGACATCCACGGCAATCAAAGTGTACAAACACCTTGTGGAACAATGTAATGTGTATCTTAAAGGAGACTCTTGTGGCTGTAAGGTGCCAGTGGAGTTTAGCAGCTGTGATTCTCTTGTTGCATTGGCGCACAGCATGATCACCAGCAAACCAGCCTGCATGTTGGACAGCAGAGAGACGCAGCAGATCAGTTCATTGATCACACAGGCTTTTCTGTACTCCATCCCTTGCAACTCTTCTGGTACAGCCTGCTTTGGAAGAACGGTCACTATTGGCATTGAGGGTCAATCTGTGAACCATTCTTCAGTTTTTCCTGGACTGCTGCTGGATGTTCCT[G/T]AGATGCTCCTGCCTGGAGATCTCGAAAGACTGGGAGATGGTCCGTTTAAGGTGGTGCTTTTTGGTGTGTCACTGTCGGGGGATATTTCTGAGGTTGGCGATGTTGCTTTGGAGGTCCACAGAGGATTGAACCCCGAACGAGATCTCCTTCAGCAGCTCTTGAAGATTGGGGAACAGGTTGTAAAGGATAAAGTGAGTTTATTCGCATGCCAAAAAGTGGTACATCCAGTTCTTCAGCACTACCTGAGAGAGCATGAAGTGGTCGTGATCGAAAGGCTCGGACTCGCTCTGATGGAGCCGTTTGCCAAGATAACAGGTAAATATTTAGTTCAGGGCTTCATGGGGATTTGTTTTTGTGTAATTTAATATGAAGTTTTACTGTAATGGAGTTGTGAAATACAAGTGTATATACTGCATCTGGGGTGGCACAGTGGCTTAGTGGTTAGCACTGTCACTTCATAGCAAGAAGGTTGCTGGTTCGAGTCCCAACTGGGCCAGTTG
Associated Phenotype:
Not determined