ZMP
smcr8b
Ensembl ID:
ZFIN ID:
Description:
Smith-Magenis syndrome chromosomal region candidate gene 8-B protein homolog [Source:UniProtKB/Swiss
Human Orthologue:
SMCR8
Human Description:
Smith-Magenis syndrome chromosome region, candidate 8 [Source:HGNC Symbol;Acc:17921]
Mouse Orthologue:
Smcr8
Mouse Description:
Smith-Magenis syndrome chromosome region, candidate 8 homolog (human) Gene [Source:MGI Symbol;Acc:MG
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa39544 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa39544
Status:
Mutation detected in F1 DNA
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:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000021504 | Nonsense | 202 | 985 | 1 | 2 |
Genomic Location (Zv9):
Chromosome 1 (position 7611684)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 7851489 |
| GRCz11 | 1 | 8535600 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGAAGAACTTTGCGAATGAACTGGAGGTAAAGCTTAGAGATTTGGAGTA[T/A]ACAAGAGTCGTGTTACAGAAAGAGTTAAATACTGTGTCTGTAAAGTGCAG
Long Flanking Sequence:
CCATACACTGGGGATGCCACCCCATGGTCCAAGATATCTAGTGCCAAGTTAAAGAAAGATTTCATCCTCATATCAGAGTTTTCAGAGCAAGTTGGCCCCCAGCCATTACTTACAGTTCCTCTTGAAACTAAAGCTTGTGGGACTTTTGATTTGAACTACTTCTCTCTTCGGATCATGTCAGTGGACTATCAGACTTCCCTGGCCGGCTCTCCAGGTTACGGTTCCTTCAAGCTGAACTTTGTAGAAGACTCAAAGGTGGTTTTAGCAGACTCAAGAGAAGGAGTATTTGCATATGTGCACCACCTGACCCTCTATGACCTGGAGGCTCGAGGTTTTGTGCGGCCTCTTTGTCTTGCCTATGTGTCGTCTGATGAAAATAAAATCATTCAACAATTCCAAAGGATTTCCACAGAATTCAACAAAGTCTCAGAATGTCTGAAAACTGGAAACAGGAAGAACTTTGCGAATGAACTGGAGGTAAAGCTTAGAGATTTGGAGTA[T/A]ACAAGAGTCGTGTTACAGAAAGAGTTAAATACTGTGTCTGTAAAGTGCAGCAGTGAAAGGGAACCAATATTAAATGGTGTACATTCATTTGAGAGGAATGCAGATGAGGTGAAACTGAACGAGAAATCCTCTCACACAGATGAAATCTCACCGCAAGAGAAAGACGGATGTGGGAATTCTAGAAAGGTGGAAGTGAAGCTTGAAAATGAGAATAGGTCACATTTTGAACTTGAACAGTACGGGAAACAAAGAAAGGACAAACCGGATAAAACATCATGTCCAATGCCTTTGGCTAACAAAAATGATGAGTTGGCCAGTGTAGAAAAACTGATTCAAGACTATAAAAGCCTTCTAAAGCAGGTCACTTGTTACCCAACTAGAAAGCTTAGAGACTCTGAATACTCCCCTTATGAACCTGATGACCTCCCTCAGTCTTTTGACCTCGACCTGGACAGTCAGTTTTCCGGGCCAATGCTAGAATGCAGTGTTTTTACTTATAC
Associated Phenotype:
Not determined