ZMP
LOC797354
Ensembl ID:
Human Orthologue:
SMC1B
Human Description:
structural maintenance of chromosomes 1B [Source:HGNC Symbol;Acc:11112]
Mouse Orthologue:
Smc1b
Mouse Description:
structural maintenance of chromosomes 1B Gene [Source:MGI Symbol;Acc:MGI:2154049]
Alleles
There are 8 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa44260 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa24632 | Nonsense | Available for shipment | Available now |
| sa24631 | Nonsense | Available for shipment | Available now |
| sa16356 | Nonsense | Available for shipment | Available now |
| sa38036 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa38035 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa44259 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa44260
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000027320 | Nonsense | 125 | 1225 | 3 | 28 |
| ENSDART00000125164 | Nonsense | 122 | 1236 | 3 | 29 |
Genomic Location (Zv9):
Chromosome 25 (position 16935765)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 16482309 |
| GRCz11 | 25 | 16578709 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCTTGTGAATGGTAAACATGTCACTTTGGCGAAGTACACTGGAGAGCTG[C/T]AGAAGATCGGCATCGTGGTGAAAGCCAAGAATTGTCTTGTGTATCAGGTG
Long Flanking Sequence:
GTTTCTTGAACATTACAATCAGTTCACTGTACTCAAATGGCCTCCACAATCACCAGATTCCAATCCAATAGAGCTATCAAGCGGCAAATATTCTATCATGTCAATATAGACCAAAATCTCTGAGGAATATTTCAAGTACCTTGCTAAATCTAGGATTAAGACAGTTCTAAAGATAAAAGGGGGTCCAACCCAGTACTAGTAAGGTGTACCTAATAAAGGGACCGGTGAGTGTAGGTGAATTGGGTAAACAAAATTGTCCGTAGTGTATAAGTAAGTGTGTGACTGTAAAGGTTTCCCAGTACTGGGTTGCGGCTGGAAGGGCATCAGCTGGGTAAAACATATGCTGGAACAGTTTGCTGTTCATACCACTGTGGCGACCTCAGATAGATAAGGGACTAAACCGAAGGAAAAGAAATGAATGTATTTGTTTTACAGGGGAGTCTTCCGAGTATCTTGTGAATGGTAAACATGTCACTTTGGCGAAGTACACTGGAGAGCTG[C/T]AGAAGATCGGCATCGTGGTGAAAGCCAAGAATTGTCTTGTGTATCAGGTGGTTTAGTAATTAAATGGGCAGCATTTCTAAATCACAATTAGCAGCATTTGGTGGTTATTATATTTATGCTCTATATTTATTAATTTGCGATCTTAGGGTGCTGTAGAGTCAATCGCCATGATGAATGCAAAAGAACGAACAAAGATGTTTGAACGAATCAGTGGCTCTGGAGATCTGAATATTGAATACTTTACCAAGCTGGCGGTCCTGCAGAAAGCCAAAGAGGACACCCAGTTCCACTTTAACAGGAAGAAAGCGGCTACAGCTGAGAAGAAACAAGTCTTTAAAGATAAGACAGAGGTATTACACTGAAACCTGTAACAGATGTTGTAATTGTTTAGATGTAATGCAGAATATCTTAACTAATATCTTTGTTTTGATTTGTCAGGCGCAAAGATATCAGTCGCTGGTGGATGATCTCAGAGAATGCAAACTTCAACTGACCCTCTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24632
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000027320 | Nonsense | 201 | 1225 | 4 | 28 |
| ENSDART00000125164 | Nonsense | 198 | 1236 | 4 | 29 |
Genomic Location (Zv9):
Chromosome 25 (position 16935438)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 16481982 |
| GRCz11 | 25 | 16578382 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACACCCAGTTCCACTTTAACAGGAAGAAAGCGGCTACAGCTGAGAAGAAA[C/T]AAGTCTTTAAAGATAAGACAGAGGTATTACACTGAAACCTGTAACAGATG
Long Flanking Sequence:
CTGGGTAAAACATATGCTGGAACAGTTTGCTGTTCATACCACTGTGGCGACCTCAGATAGATAAGGGACTAAACCGAAGGAAAAGAAATGAATGTATTTGTTTTACAGGGGAGTCTTCCGAGTATCTTGTGAATGGTAAACATGTCACTTTGGCGAAGTACACTGGAGAGCTGCAGAAGATCGGCATCGTGGTGAAAGCCAAGAATTGTCTTGTGTATCAGGTGGTTTAGTAATTAAATGGGCAGCATTTCTAAATCACAATTAGCAGCATTTGGTGGTTATTATATTTATGCTCTATATTTATTAATTTGCGATCTTAGGGTGCTGTAGAGTCAATCGCCATGATGAATGCAAAAGAACGAACAAAGATGTTTGAACGAATCAGTGGCTCTGGAGATCTGAATATTGAATACTTTACCAAGCTGGCGGTCCTGCAGAAAGCCAAAGAGGACACCCAGTTCCACTTTAACAGGAAGAAAGCGGCTACAGCTGAGAAGAAA[C/T]AAGTCTTTAAAGATAAGACAGAGGTATTACACTGAAACCTGTAACAGATGTTGTAATTGTTTAGATGTAATGCAGAATATCTTAACTAATATCTTTGTTTTGATTTGTCAGGCGCAAAGATATCAGTCGCTGGTGGATGATCTCAGAGAATGCAAACTTCAACTGACCCTCTTTCAGCTCTTTCACAACGAGAAAAGCATTGATGCACAGTCAGCTTCATTGGGGGACATGCAGGCAGCCGCAGCGCAGCAGAAGATCAGCCTGGACGCCTGGGAACAAACTGTAAAGACCCAGAAGAAAGAACATGGGCGTCTGAACAGAGAACTTCAGCAGCTGGAGAAGGAGATCAGGTCAGTCACACTGACTGCTAATGTTGGTGAAATCACACAAATTACAAAACGTTAAAATAAAAAAATAATTTAATTTAATGTATCATATGTAGACAAGAAAATGTTATTAAAATTCTTAAATAATTCAGTGTATATATAAACGATTTTATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa24631
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000027320 | Nonsense | 264 | 1225 | 5 | 28 |
| ENSDART00000125164 | Nonsense | 261 | 1236 | 5 | 29 |
Genomic Location (Zv9):
Chromosome 25 (position 16935161)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 16481705 |
| GRCz11 | 25 | 16578105 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACATGCAGGCAGCCGCAGCGCAGCAGAAGATCAGCCTGGACGCCTGGGAA[C/T]AAACTGTAAAGACCCAGAAGAAAGAACATGGGCGTCTGAACAGAGAACTT
Long Flanking Sequence:
GTTATTATATTTATGCTCTATATTTATTAATTTGCGATCTTAGGGTGCTGTAGAGTCAATCGCCATGATGAATGCAAAAGAACGAACAAAGATGTTTGAACGAATCAGTGGCTCTGGAGATCTGAATATTGAATACTTTACCAAGCTGGCGGTCCTGCAGAAAGCCAAAGAGGACACCCAGTTCCACTTTAACAGGAAGAAAGCGGCTACAGCTGAGAAGAAACAAGTCTTTAAAGATAAGACAGAGGTATTACACTGAAACCTGTAACAGATGTTGTAATTGTTTAGATGTAATGCAGAATATCTTAACTAATATCTTTGTTTTGATTTGTCAGGCGCAAAGATATCAGTCGCTGGTGGATGATCTCAGAGAATGCAAACTTCAACTGACCCTCTTTCAGCTCTTTCACAACGAGAAAAGCATTGATGCACAGTCAGCTTCATTGGGGGACATGCAGGCAGCCGCAGCGCAGCAGAAGATCAGCCTGGACGCCTGGGAA[C/T]AAACTGTAAAGACCCAGAAGAAAGAACATGGGCGTCTGAACAGAGAACTTCAGCAGCTGGAGAAGGAGATCAGGTCAGTCACACTGACTGCTAATGTTGGTGAAATCACACAAATTACAAAACGTTAAAATAAAAAAATAATTTAATTTAATGTATCATATGTAGACAAGAAAATGTTATTAAAATTCTTAAATAATTCAGTGTATATATAAACGATTTTATAATTCTTTATGTACATATGCATACATATCACAATTTAGACACAGACATAAAAATACATTTAGTTTTATTTCTGAATATTTAAAAGTTTTAGGATTATTAACTATTGACTAAAAATAAACTTTTTTAACATGCAAATACACACATGTAAAATATACATGCATTTTATTTTATTTATTTATACAGAAAAATGATATTTAAAAGTATTAAAAGCATTCTCCTTCAGCTTAAATCTTTATCAGAGGTCACTAATGAACCACCAACTATTCTGAGATATATTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16356
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000027320 | Nonsense | 371 | 1225 | 8 | 28 |
| ENSDART00000125164 | Nonsense | 368 | 1236 | 8 | 29 |
Genomic Location (Zv9):
Chromosome 25 (position 16933371)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 16479915 |
| GRCz11 | 25 | 16576315 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGTCAATAAWAGGGCAATGTTAAGCTGATGTTATATTATGTTTGTCTGTG[C/T]AGTTGGAGCGTTATAAGGAACTCAAAGAGTTAGCTAGAAGGAACGGAGCC
Long Flanking Sequence:
TCCTCCAGATCTCAGGAGCAGATTCTGAATCAACAGAGGCCTCAGTACATCAAAGCTAAAGTGAACACCTCCCACCATGAGCAGAAAGTGCAGGAGGCTCACAGATCTCTTCAAAAGAACCAGAATCTACAGGCCAAGAAGGGGCAGGAGCTTGAGGAGCTGAAGAGAGAACTGACTGAGCTGGAGAGAGCCTGGAAGACCTCAGAGAGGCAGATGGAGGAGGAGGAGGCTCGAAGAGGAGCAGGAGTACAGCTGCAGGAGAGCCAGGTTAAAATAAGTGTTTAATGAACATTCGTTTTATAAACACAAGCATGTAAAATGCAATGTGAAATAAAAACTGCAGAAATAAACAAGAAGGACAAAATTTTATCATCTGATTGAGTAATCAAAAGTGGCCTTGCTGTTTTTTTCTAGTGATGGGATTATATTAGCAGAATAAATAATTTTAAGTGTCAATAATAGGGCAATGTTAAGCTGATGTTATATTATGTTTGTCTGTG[C/T]AGTTGGAGCGTTATAAGGAACTCAAAGAGTTAGCTAGAAGGAACGGAGCCATTTTAAACCAAAGCGCAGAAAAGTTGCACTGGGAGGTAAAAGCGGACCGTGAGAAGCTCCAGTTTGACCTGAGGAGGAAAAGTGAGATTCAGGTTGGCTTAGATCTTCATGATTGCTGTTTTACTTTATATTTTTATTTAAAATACATTAAAAACATTGACTCAATATGACGTCATGTTGACATCCTGTGCCTGCAGGGTATACTGTATTGTCCCCAGTAGCGAAATTTGGCTTGCACCCTAGACCCCCATTTGCATGCACTGAATAAACAACAACATACTGTAACAACTCTAATCAAACAGTAAATTACATTTACATTTACAGCATGCACAGGATGTCAACATCACGTCAGACTGTGCAACCTTATGTCCAACCTAAAATCAACCAAATATCAACCTCTAATGATGTACCAGCTTGATGTGTGGACGTTACCACTATGATGTCTGTCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38036
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000027320 | Nonsense | 496 | 1225 | 10 | 28 |
| ENSDART00000125164 | Nonsense | 500 | 1236 | 11 | 29 |
Genomic Location (Zv9):
Chromosome 25 (position 16932156)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 16478700 |
| GRCz11 | 25 | 16575100 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGTGCTGACCAAGCTGCAGAACGCCCGTCTGGACAGCCAAGAGAACCGA[C/T]GACAGCAGAAACGAGACGAAGTGCTGGAAAGCCTCAGGAGACTCTACCCT
Long Flanking Sequence:
CAATTTTATCTGCAAACAGGAAGTCTATATTGTCTATCAGAGGGCAGTAAATCATACTCGGAGAATAAGCTATGTGAGGAGTCAAATTATATTTTAGAATTATTACGTAAATGTTGTTTTGCAGGGAAATATCAAACATAGTCAAACTCATCTGGAGGATATCAGCAGAAGGGCAGAGAAACTGGAGGAATATGTCAACACTACAACGTATGACTCCTTCATAAAACTCTGCAGAAGAGCTGAAATATTGGATATGAATAACATTGTGTTTTTTTTTTAATTTGAGATTGCATGAGTTATTTTATATTTAATTTAAATGATTTAGTCAAATATTACTCATCATTTTCTGAAGCCAAACTCTTGAGGAGCAGCGTCAGCAGGAGGAGCAGCTGTCAGAGGAGCTGGCAAAAGGCCTTGTGCGAATGGAGGAGGTGAATGTGGAGCTCGCACAAGTGCTGACCAAGCTGCAGAACGCCCGTCTGGACAGCCAAGAGAACCGA[C/T]GACAGCAGAAACGAGACGAAGTGCTGGAAAGCCTCAGGAGACTCTACCCTGATACTGTGGTACTGTCACAATCAGCTTATACAGCCAATGTTTAAATAACATTAATGTCTGCATCTGAATTCAAATTGACAAAATTTAGTTTGTTAGCTATAGACCATTTTTAGAATGCCAAATTAGCCATTATGCTTTTTGTGTATGCGTAAGGAAGATGCTAAGAACTTCTGTTTGGCAGCTTGGTGTGTATAAACACTCAGATACGGACAGCTTTGAAATGATAGTTTAATTTATTTTACATGCTATTAACATTTTTAAACTAATACTGCTGTCGATCAGGGCCACCTCATGGACTGATCATTTTAAAAAAGCTTAATGGGATGAGAACAATTGCTGCAAGGCATTTTTCCGTCATTGTCATGGCATCTTGTGCCGTTTAAATAAGGCCTCGTCATCACTACAGTGAACATTTTCTCTTTCTTTCAAATATATAACCAACCCAAACA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38035
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 |
|---|---|---|---|---|---|
| ENSDART00000027320 | Nonsense | 551 | 1225 | 11 | 28 |
| ENSDART00000125164 | Nonsense | 555 | 1236 | 12 | 29 |
Genomic Location (Zv9):
Chromosome 25 (position 16928993)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 16475537 |
| GRCz11 | 25 | 16571937 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAAAGGTGTTTGGCAAGAACATGAACGCTATCGTTGTGACGTCTGCTTA[T/A]GTGGCCCATGATTGCATTCGATATCTGAAAGAGGAAAGAGCCGAACCAGA
Long Flanking Sequence:
GTGTGTAATCCCCCCGTAGGGATGCAGCGAAATGAAAACTGGATACACTTTGCTGTTAGCAAGTTTTTTGAGCTGACTTGCTTTTCTGGTGAGCATGTGTTGTTCATTCGTATGTATATATACATAGTATATGGGTACATGAGTGGATTATACTCGGAGCATAATATTGAGCTATTTTGAACTTTGACCACAGTGCGTGTGCAAGCTAGTCAACAGTGCGCTCCTAAATCACCCTTGCACGGTTCATGCCATTGAAATTTTTTGCCATTGAAACGGGTTTCAAAACACAGTGCTTTATCACTTAGATTGTAACACCTGCTTCACACATTCCCTTATTATAGTATTATGTATCTTGTGACCAGCAACTCAACACTTCTGGATTTTTATCTTCAGTATGGTCGTCTGGTGGAGCTGTGCCAGCCCATCCACAAGAAATACCAACTTGCAGTCACAAAGGTGTTTGGCAAGAACATGAACGCTATCGTTGTGACGTCTGCTTA[T/A]GTGGCCCATGATTGCATTCGATATCTGAAAGAGGAAAGAGCCGAACCAGAGACTTTTCTTCCTATTGACTATATAGATGTGAGTGAAACATCAAGGTCTTTCTCAAATCATTATTCTTTTTTTATTTACTAAGTACTTTTAAATATGTTTTCGTGTGGTTATCAATGTCTTCTCTGTACGTGCATCAGGTGCCCATTCTGAATGAGCGTCTGAGGGAGGTGCAGGGAGCCAAGATGGTGGTGGATGTGGTTCAGTGTTCACAAAACGCCCCTCAGCTGAAGAGGGTGATCCAGTATGTGTGTGGAAACTCACTGGTCTGTGAGACTCTGAAAGATGCCCGTCGGATCGCCTTTGATGGTCCTGAGCGTCTTCAGGTGAGGTGGCACACAGGTGCATTGAAAGATATTATTTTAGTCAGCGCCATTAGCCTCATGTGAAGTGACTGACATATAGCATGTCGGGAGTCCCGAATTGAAGTCTCTCCAACTCCAAATGCAAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa44259
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:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000027320 | Essential Splice Site | 577 | 1225 | 11 | 28 |
| ENSDART00000125164 | Essential Splice Site | 581 | 1236 | 12 | 29 |
Genomic Location (Zv9):
Chromosome 25 (position 16928913)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 25 | 16475457 |
| GRCz11 | 25 | 16571857 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGAGGAAAGAGCCGAACCAGAGACTTTTCTTCCTATTGACTATATAGATG[T/A]GAGTGAAACATCAAGGTCTTTCTCAAATCATTATTCTTTTTTTATTTACT
Long Flanking Sequence:
CTTTTCTGGTGAGCATGTGTTGTTCATTCGTATGTATATATACATAGTATATGGGTACATGAGTGGATTATACTCGGAGCATAATATTGAGCTATTTTGAACTTTGACCACAGTGCGTGTGCAAGCTAGTCAACAGTGCGCTCCTAAATCACCCTTGCACGGTTCATGCCATTGAAATTTTTTGCCATTGAAACGGGTTTCAAAACACAGTGCTTTATCACTTAGATTGTAACACCTGCTTCACACATTCCCTTATTATAGTATTATGTATCTTGTGACCAGCAACTCAACACTTCTGGATTTTTATCTTCAGTATGGTCGTCTGGTGGAGCTGTGCCAGCCCATCCACAAGAAATACCAACTTGCAGTCACAAAGGTGTTTGGCAAGAACATGAACGCTATCGTTGTGACGTCTGCTTATGTGGCCCATGATTGCATTCGATATCTGAAAGAGGAAAGAGCCGAACCAGAGACTTTTCTTCCTATTGACTATATAGATG[T/A]GAGTGAAACATCAAGGTCTTTCTCAAATCATTATTCTTTTTTTATTTACTAAGTACTTTTAAATATGTTTTCGTGTGGTTATCAATGTCTTCTCTGTACGTGCATCAGGTGCCCATTCTGAATGAGCGTCTGAGGGAGGTGCAGGGAGCCAAGATGGTGGTGGATGTGGTTCAGTGTTCACAAAACGCCCCTCAGCTGAAGAGGGTGATCCAGTATGTGTGTGGAAACTCACTGGTCTGTGAGACTCTGAAAGATGCCCGTCGGATCGCCTTTGATGGTCCTGAGCGTCTTCAGGTGAGGTGGCACACAGGTGCATTGAAAGATATTATTTTAGTCAGCGCCATTAGCCTCATGTGAAGTGACTGACATATAGCATGTCGGGAGTCCCGAATTGAAGTCTCTCCAACTCCAAATGCAAAAAAAGCAAAATGTTACTATTATTTCTGGCCAATTTGATTGCTTGTTTTTCATCCCGATCACTATGTAACATGTCTCATTTA
Associated Phenotype:
Not determined