ZMP
zgc:136403
Ensembl ID:
ZFIN ID:
Description:
Zgc:136403 [Source:UniProtKB/TrEMBL;Acc:Q1RM66]
Human Orthologue:
MCPH1
Human Description:
microcephalin 1 [Source:HGNC Symbol;Acc:6954]
Mouse Orthologue:
Mcph1
Mouse Description:
microcephaly, primary autosomal recessive 1 Gene [Source:MGI Symbol;Acc:MGI:2443308]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa31904 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa31904
Status:
Available for shipment
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For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000102937 | Essential Splice Site | 233 | 422 | 10 | 15 |
| ENSDART00000122491 | None | None | 470 | None | 9 |
Genomic Location (Zv9):
Chromosome 13 (position 6220959)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 13 | 6188177 |
| GRCz11 | 13 | 6316637 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGAAATGTGTAGCAAAGTGGAGAATATGAAAAAGGACAAATGCTTGAAGG[T/G]AAAATGCTGGAGTTTTTTTTCCATGTTTAGTAGATTGTATTAAAGTTGTA
Long Flanking Sequence:
CTGTAGTTTAACAGTTCAATTGTAATTATTAATTGAAAGTGAACTTTTTTGTGTGAATTTTATAGTATCACTGGCATCCATAATTGCTCGTAATAAATTTTACAGCACTTTTTACAGTGTGGGTGTAAAGTCTGAAAATGTAAAAGCTGTGAATGTCTAAATTAGCACCCATGTTGTATCTAATCTATGTTGCTGCTATAGGCCACAATAAATGGATTTAATTTTTTGTACTTTAAAAGTAAGGAACATCCTTTGTATTAGTTGAGAAACACATTGACAATAAAGCATGCTTTTAAAAGTGTTTCACGGTTGACCAAATGTAAAAGATGTGCTCTTATCTGCTGTTCAGCTGTGTAGCTGCGCACCTGCTGCTCAAGTTAACTTTGTTTGCATTATTTCAGTTGTAGGGAAAGAAAATAAAAGCACAACAGATGGGATTGAGAGAAGTTCTGAAATGTGTAGCAAAGTGGAGAATATGAAAAAGGACAAATGCTTGAAGG[T/G]AAAATGCTGGAGTTTTTTTTCCATGTTTAGTAGATTGTATTAAAGTTGTATCGGATGAAATGCTTTGAAACAAGATGTTTATGTGAGAATTTAAGATAAGTTCATCCATGTGAATGTTTTTGGAGAAATTGCTAAATTAAAAATATATATCACCCAAAAGTTTAAGTTAAGTTGATAGTTTCAAAGCTTTGTGGTGTATTTTTCTTTTCTTTGTCTGTTAAACACAATGGTATTCTGGAAAGTGGTAGTTACTGACATCCATAGTGGGGGGAAAATACAATGAAAGTCATTGGCTACACATTTCTTACATTATTCAGAATATTAGGGTTCATACAGGTCAACATGGAAATTCTGGAATATCATTCCAATATATTTAGGTCAGTGAATTTTATATTCAAGTCATGGTATATCAGGGAGTTTTGTTTAATTTCTATTTATTAAAATATGATTTTTATATACTCTGTTTTTTTGTTTCACTTGATTTGCTTATTGTTATGTTT
Associated Phenotype:
Not determined