ZMP
smchd1
Ensembl ID:
ZFIN ID:
Description:
KIAA0650-like protein [Source:UniProtKB/TrEMBL;Acc:Q5I9I5]
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 are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa18180 | Nonsense | Available for shipment | Available now |
| sa34256 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa18180
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000016267 | Nonsense | 57 | 401 | 2 | 10 |
Genomic Location (Zv9):
Chromosome 7 (position 75321968)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 71436796 |
| GRCz11 | 7 | 71629230 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TATTTGGATTTAAGTGTTTGTAKYAAAGYTGCTCTCTGTAATTCAGCCTT[T/A]GCAGGTCATGAATGGTCATGSTTTGGAGACTCCRCTGACMATGCAGCTCT
Long Flanking Sequence:
AATTAAATTTTTTTAGTACATTTTATTTCTTTCTTTCTTTATTTTGTTTAGCTGTATTGTATTTATATATTTTTTTATTTAATTTCTATTATTTATTCTGCTTTACCTTTTTACTGAGCATGTCCAAAAGTGAGCACTTTCGCTTTTGCTTTGTGTGCACACACTATTATGTATGTACCAAATAGTACATGCTAAGATGAATGTCTATTTCTTTCCAGCTTGTGGATTAAATAGTGTGCTTTTCTGCAGGCGAGAGCTGGACATTTTTGTGTTAGTGGCATCCGTTTTGTATCCGGATCCCCAGGCTCACGAGAGCTGAGTTTCCAGCTCCAGCGCATGAAGGAGTTTGTGCGAGTTGATGTGACTGCAGGAGCTCCAGCACAGATAAAACTGCTGGAGGAGCTGGAGATGGTAAATCACACACATGCAGACCATCACAAGGAGGAAGAGTATTTGGATTTAAGTGTTTGTATTAAAGTTGCTCTCTGTAATTCAGCCTT[T/A]GCAGGTCATGAATGGTCATGGTTTGGAGACTCCACTGACCATGCAGCTCTGTGACCAATGGGGAAATGCTTCACCAGACCAGCGGGTTAACATTGTGTTGAAGACTCGCACCTCACAGTTGAAGGTAGGTCTGAGGAAATGCATAATGGCGGAAATATTTTAATTTTTTTATTTTATTTCATTTTATTTTATTTTATTCTTTTCTATTTTATTTCATTTTAAATGTTTTTTAATTAGTTTTATCTAATCCTTTTTTATTAGTTTTATTTTATTGTTATCTATTTTATTTGTGTTTATTTTATTTGTGTTTATATATATAATTGTGTTTATATAATGAATTAATTTAATTAATTATTTATATTTTAATTATATAATTTTGTAATTAGTTAAACAATCGATTATAATTTAGTTGACATTTTTGACCATTTTCTAAATATAGCTAGCATGCTTTTGGTTTATTTATTTATTCATTCATTTATTTATTTATGTAGATTATTAAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34256
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000016267 | Nonsense | 278 | 401 | 8 | 10 |
Genomic Location (Zv9):
Chromosome 7 (position 75314260)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 71444504 |
| GRCz11 | 7 | 71636598 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGTGTTTCGGTCTTAGATTCCACTGAATGTATTTGCCAATAAAGCCACG[A/T]AGTTAGCCCCTGAGATTCCACCTGCTACTCCTGTTGTGTCCAATAGTAAC
Long Flanking Sequence:
AAGATGTGCAGCACCTGAAACTACGGATACAGGAAGCCTGTGCTGGCATTTCTCCTGCGGTGTTGCTATCAGTGTGTGAAGAGTGGGAGAAGAGGCTTGCATTGACAATCCAACACAACGGGCAGCACATTGAACACATTTTATAAGTGGTCAGAAACTTGTAAATAACTCATGAAAGAATAAAGTTATGGTAAAACCAAGCACGCCATTGTTTTTCTTGTGAAATTCCCAATACGTTTGATGTGTCACATGACCCTCTTCCTATCGAAAAAACAAAAGTTGGATCCAAGATGGCCGACTTCAAATGGGCCAGCAATGATCACCACCCGTCGTGAAAAGTTATATATACTAATGTGCCACAAACAGGACGTTAATATCACCAACCATTCCCATTTTATTAATGTGTATCCATATTAATGGCCCACCCTGTACTTAATGCAAGATGCTCATCTGTGTTTCGGTCTTAGATTCCACTGAATGTATTTGCCAATAAAGCCACG[A/T]AGTTAGCCCCTGAGATTCCACCTGCTACTCCTGTTGTGTCCAATAGTAACGTTCGGGCCAATCGGACGCTGTTGTACAGCTTGACTCTAAAGATCATGGTGAGTTTCAGTCTTGGAGGGAGAAATAGTGTTGAGTAAGTAAGTTGAGCTCAACACAACTGAACACTGCTATTATAATGACTGCAAACGCTATAGTAGTATCAGTAGTGGTAGTAGTATCAGTATTAGTAGACATTGTAGTAGTAGAAGCAGTAGTAGTTGTAATATAAGTAACTTTCTGTAGTAGTAGTTGGTGTAGCACTTGTGATTTATTATTATTGTTGTCATTTATTACTGTTGTCCTTTCTTTTTTTACTCTCATTTTTACTATCATACATTAATAAGCATTGTTGTTAATCCCTACCTCTGACAAGTTTCTTTCTATATGTTTTATCTATATCTGTGACACTTGCTTCATTTATTGACTGTTATTGTTCCTTATGTATGTACTCTGACCTGTCC
Associated Phenotype:
Not determined