ZMP
smcr8a
Ensembl ID:
ZFIN ID:
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 are 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa45149 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa31350 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa45149
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 |
---|---|---|---|---|---|
ENSDART00000074746 | Nonsense | 718 | 853 | 2 | 2 |
Genomic Location (Zv9):
Chromosome 3 (position 40253280)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 40116640 |
GRCz11 | 3 | 40258498 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTTTATTACAGAGCTGTCTCTCCGGCTGGATCCAGCATCCTCCACTCTT[T/A]GAATCGATACAGCCGTTACATAAGCATTTTGGACTGTGACAACAAAACCC
Long Flanking Sequence:
ATTAAGGTAAAAAATAAGGCAAACAAATGCATTTGTCAGCGTTATGAACACCACTGAAAATACAATGTAAATCCTCTTAAATTTTAAATCATAAATATTTACTGTATTATTTTTTCAAGTGCCCACAAAATCAATATTGTACATTTTCATTATCCTGATACATTGAATATTGAATTTCAGCATACATCTACCTGTAGTCGATCAATGTGTAGGGCTGCACAATATTGTAAAACTCTGACATTGTGATATAAGTTTTGCAGCAATATATATTGCGATTATGAATATAATTAAACCAGATGACTTGAATAGCTCTATTTGGAAAGATCTCATTCATTCAGATCGACTGGGGTGTTCTGTCATAGCTTTAAAATCAGTTTGCAGGCAATGCTTTAAATCATTGACAAAAAGTGCAGCGTCTGATTTATTGTATTTCCAATTCTTATTTATTTATTTTTATTACAGAGCTGTCTCTCCGGCTGGATCCAGCATCCTCCACTCTT[T/A]GAATCGATACAGCCGTTACATAAGCATTTTGGACTGTGACAACAAAACCCTCCGGTGTCCGCCATACAAGGGAACACTAATAAGCCACTTGGCAGACCACAGGACTCAGATCAAACGTGGCAGCACCTACTTCCTCCACATTCAGGGTATGTTGACTCAGCTTACAGCCAAGGCCTTCCTTTATACATTCTGCCATCACATTCACCTTCCCATGGACATCAACGACCAGGGCTCGGTAACATCGCGCAGGACTAATTTCTTGTTGCAGCTCGGCTACACTGTGGAGGAAAGTAAAATCATCCAGTACCTGAGTGAGCTCATCAAGCAGCATTACATTCACGGGTCCGCCAAAGTGGGCAACCCGTCTTTTTCTTTTAATTACACCACCAGCTATTTGTATAAGATCTGAATGTGTCCGCTGTATGTTCGACATTACGTTTCCCAATCCTGTTCCTAAAGGCACACCAACAGTACACATTTTCAACCTAATTAAACACGCC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31350
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000074746 | Nonsense | 779 | 853 | 2 | 2 |
Genomic Location (Zv9):
Chromosome 3 (position 40253464)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 3 | 40116824 |
GRCz11 | 3 | 40258682 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCCACATTCAGGGTATGTTGACTCAGCTTACAGCCAAGGCCTTCCTTTA[T/G]ACATTCTGCCATCACATTCACCTTCCCATGGACATCAACGACCAGGGCTC
Long Flanking Sequence:
CATCTACCTGTAGTCGATCAATGTGTAGGGCTGCACAATATTGTAAAACTCTGACATTGTGATATAAGTTTTGCAGCAATATATATTGCGATTATGAATATAATTAAACCAGATGACTTGAATAGCTCTATTTGGAAAGATCTCATTCATTCAGATCGACTGGGGTGTTCTGTCATAGCTTTAAAATCAGTTTGCAGGCAATGCTTTAAATCATTGACAAAAAGTGCAGCGTCTGATTTATTGTATTTCCAATTCTTATTTATTTATTTTTATTACAGAGCTGTCTCTCCGGCTGGATCCAGCATCCTCCACTCTTTGAATCGATACAGCCGTTACATAAGCATTTTGGACTGTGACAACAAAACCCTCCGGTGTCCGCCATACAAGGGAACACTAATAAGCCACTTGGCAGACCACAGGACTCAGATCAAACGTGGCAGCACCTACTTCCTCCACATTCAGGGTATGTTGACTCAGCTTACAGCCAAGGCCTTCCTTTA[T/G]ACATTCTGCCATCACATTCACCTTCCCATGGACATCAACGACCAGGGCTCGGTAACATCGCGCAGGACTAATTTCTTGTTGCAGCTCGGCTACACTGTGGAGGAAAGTAAAATCATCCAGTACCTGAGTGAGCTCATCAAGCAGCATTACATTCACGGGTCCGCCAAAGTGGGCAACCCGTCTTTTTCTTTTAATTACACCACCAGCTATTTGTATAAGATCTGAATGTGTCCGCTGTATGTTCGACATTACGTTTCCCAATCCTGTTCCTAAAGGCACACCAACAGTACACATTTTCAACCTAATTAAACACGCCTAAATCAACTCATCAGAACATTAGAGGACTCCAAAACCTGAAGTTAATGGGTCAAATAAGGGAGACTGTAAAATATGTACTGTTGATATGCCTCCAGGAAAAGGGTTGGGAAATGCTGAATTAAAGAGATAGTTCGGCAAAAACTGAAAGTTCGGTCTCTTCGCTTGTTCCAAACCTGGTTGAG
Associated Phenotype:
Not determined