ZMP
LOC570784
Ensembl ID:
Human Orthologue:
SMCHD1
Human Description:
structural maintenance of chromosomes flexible hinge domain containing 1 [Source:HGNC Symbol;Acc:290
Mouse Orthologue:
Smchd1
Mouse Description:
SMC hinge domain containing 1 Gene [Source:MGI Symbol;Acc:MGI:1921605]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa27111 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa27111
Status:
Mutation detected in F1 DNA
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For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000129984 | Nonsense | 143 | 399 | 5 | 10 |
Genomic Location (Zv9):
Chromosome 7 (position 75305861)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 71376849 |
| GRCz11 | 7 | 71617990 |
| GRCz11 | 7 | 71627775 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGAGAACGGGACGCCGGTCAACTTTAAAGTGGAGGTTCATGATGAGTGC[C/T]AGAATATCACCGCTCATCCTAAACTCGCCGTCCGCTGCCAGGTGACGCTC
Long Flanking Sequence:
AATATTTGAAGTATTTTTTAATCTTATTTTTCATGTTTTAGTACATTTTATCAATAAAAAGGCATTTAGAGTAGCTGTTTAATGTACTGATACTTTTAGAGACTGCTAAAATATGTGTGGATGTATTTAGCATATATTATGAGCATGCTATTGCTGAAAATAACCAAGCAGGGTTTTCATTTATTTATTTTTATGCAGGGAAAGTATTTGTATATAACTTGAATTTGTATGTGTGTGTGTTTGTTAACAGAAGCACACAGTGAAGGTGCGCATCCCGGGGCTGAAGCAGGACATTGATTCTTTTCAACTCGCTCTGGAACCTGGTATGAAAAACAAAACAAACGTGTTACAATAAGAGGGATTGTTAAGCAGAATATCAAAAGTCTAATATTTATGTTGCAGGTCCTCCACACACTCTGGTGGTGTTTCCAGATGGAGATGTGCTCTCTGTTGAGAACGGGACGCCGGTCAACTTTAAAGTGGAGGTTCATGATGAGTGC[C/T]AGAATATCACCGCTCATCCTAAACTCGCCGTCCGCTGCCAGGTGACGCTCACAGACAAACACACTTTTAAGAGTTATTCAGTTTTTTTACACAGCTCTCTGGAATGCTTTGTTCTGATTGGTCAATGCCAACATAACAAGGTATGTTATTCCCAGATGACAACCGATTACACCAATAATATTGACTTATTGAGCTAGTATCAGTCACCTTGACCATTAGGGAATAATATGTTAATTGACTCAATAAAGGTGGTCGCACATGATGATTTGATGATGATATGTTGTGTAATATATGTGGTTTGATGTGTGTTTGCAGATGATGGGAGCTCCTGATCTGCCGGTGGACATTGTGGACTGCAGTAACACCGGCTCTGGACTCATGCTGACTAAACCACTGTCTCTGAAGACTGTAAATGCTGAACAGATCTTTACCGTAAAATTCAACATCCCTGTAAGATATACATACATCATTTACTCTATTTTAGACCATTTTGATCATAT
Associated Phenotype:
Not determined