ZMP
si:ch1073-329n19.2
Ensembl ID:
Description:
complement component 1 Q subcomponent-binding protein, mitochondrial [Source:RefSeq peptide;Acc:NP_
Human Orthologue:
C1QBP
Human Description:
complement component 1, q subcomponent binding protein [Source:HGNC Symbol;Acc:1243]
Mouse Orthologue:
C1qbp
Mouse Description:
complement component 1, q subcomponent binding protein Gene [Source:MGI Symbol;Acc:MGI:1194505]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa31411 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa31411
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000058346 | Essential Splice Site | 147 | 270 | None | 6 |
| ENSDART00000146840 | Essential Splice Site | 164 | 280 | None | 6 |
The following transcripts of ENSDARG00000039887 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 5 (position 3941202)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 3600480 |
| GRCz11 | 5 | 3923933 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAGCTGGAGGAAGAGCCCGAGCAGACACAGAAGAGTCAGGAGGAGGAGG[T/C]ATCACTCATACACACGGTTTACACATTACATTACTGTAGAGAAGAGATTT
Long Flanking Sequence:
CAATTCTTTTCGTCTTGATTCACGCTTGAGCTACTAAATGAATGCCAAAGTCTGTTTAACTGATTGTATTTGAATTATATTACATCAATGCTGTATAAGGAACCGTATAAAATGGAAAAAAACTCACTATAACAGGTCACCGGAGGTTTATCAGTATGGGAACAGCACTAGCTCCGCATGTACCCCATTCTGTTTCAGTCACACTGAAAGCTCATCATACTGAAATAAATGTCTTCGGCAGCCTCCGTTTCATACAGACTTTAAAAGCTGACACTATATAACACAGACGCCTAATAAATTTTGTACAAATTATCATGGTATTATAACAAGCAAATTAATGAAGCTTCATCTGCAGCACTTGTATGATCATTCCTACGCTTCCCTGTAATGTGTTGTGTTTGTGTTGGACAGGGTCACCATCACTTTTAATGTGAACAACAGCATCCCACCACAGCTGGAGGAAGAGCCCGAGCAGACACAGAAGAGTCAGGAGGAGGAGG[T/C]ATCACTCATACACACGGTTTACACATTACATTACTGTAGAGAAGAGATTTATGAAGCGTAATGTTGCGGTGTACACTCACCGGCCACTTTATTAGGTACACCTTACAAGTACCGGGTTGGCCCCCCTTTTTGTCTTCAGAACTACTTTAATCCTTCGTGGCATAGATTCAACAAGCTACTGGAATTATTCCTCAGAGGATTTGCTCCATATTGACATGAGAGCATCACACAGTTGCTGCAGATTTGTCAGCTGCACATCCATGATGTGAATCTCCTGTTCCACCACATCCCAAATGTGCTCTATTGGATTTATATCTGGTGACTGTGGAGGCCATTTGAGTACAGTGAACTCATTGTCATGTTCAATAAACCAGTCTGAGATGATTGTTGTCCAGTTTTGATGAGCATGTGTGAATACAGTTTCCTGTTCTTAGCTGACATTAGTGGCTCCCGGTGTGGTCTAACGAGTGCTTATTTGAGTTACTGTTGCCTTTCTATCA
Associated Phenotype:
Not determined