ZMP
emilin1b
Ensembl ID:
ZFIN ID:
Description:
elastin microfibril interfacer 1b [Source:RefSeq peptide;Acc:NP_001038807]
Human Orthologue:
EMILIN1
Human Description:
elastin microfibril interfacer 1 [Source:HGNC Symbol;Acc:19880]
Mouse Orthologue:
Emilin1
Mouse Description:
elastin microfibril interfacer 1 Gene [Source:MGI Symbol;Acc:MGI:1926189]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa36350 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa17941 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa36350
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 |
|---|---|---|---|---|---|
| ENSDART00000105215 | Nonsense | 35 | 406 | 1 | 4 |
Genomic Location (Zv9):
Chromosome 17 (position 12361003)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 12343525 |
| GRCz11 | 17 | 12497591 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGTCTGGAGCGCCTCGTATCCTCAGCAGTATAACCTGTACACGGGCACA[C/T]AGACGCAGAATCAGCCCTTAAACGGGGCGAGGGCGGCGAGCAGACACAGG
Long Flanking Sequence:
TGCGTTTGTTTTTGGGGATTCAGGAGTGCGCACTGGCTCCCCTCACTCCAAACTCGCTGCATCTCCCTTCCAAGAAAACTCCTCCAGATTTCAGGAAGCCTCCGGATTGCTTTGATTGGATGTACCGACAAAATATTAAAAACCATTTCGGAAGAAGGATAGAGGGAGTTTAGCTTGTTTTTATCAGCGCGAAAGGAGGCAAAGCGCCGTTACGAGTCGACTCGAGAGATTTATCCGACACTTCTGGAAAAGCGGCGCTCTGCTCTTGCGTTATGGATCGATAGTACGAAACTTTCTGGGAGTGAGGAGAAAACTCCTGTAGAGCCCGAGAAACGCCGTCTGTGTGGAATAAAAAGAGAGTTGAGGGCTGATAAGTCGTTTTAGACGCCGTTTCAGTGATGGATGGAGCAGTTGTGTTGATATCGGTGCTGGTGCTGGGTTTGTGTGGAGGTGTCTGGAGCGCCTCGTATCCTCAGCAGTATAACCTGTACACGGGCACA[C/T]AGACGCAGAATCAGCCCTTAAACGGGGCGAGGGCGGCGAGCAGACACAGGTAATGGCTCATTTAGTTCATTCACTCACTTTTAAGTGTATTTCTGGTCATATGATGAGGAAAAATTATAGCAAGGACATCTGTGTTGTGAAATATGGAACCTGTTTACATAGAAGTACCGACCGTAGTGTTACTTTATCAAACACTTGGGTCCAATGTATTAACGGTTAATGGATGGATGAGCCATGGTGCTTGGATAGATTTGAATATGAACTTGGTCAATTGGTACTATGTTTATATTTTAAATCTGTAAAGTTTCAGCTTCCTATGTTCCGGCACAGTATTGATGGATGGATAGATGATGGAGAGTGTATTGTACTTTTTATTTAGTACCAAAGTATTACTTAATGGTAGCATAATTCTGGTTCTATCAAGGTTCTGGTACAAATATAGAAAGATATACAGTACAGCTAGATGAGTGCCATAGTACTATTGTATTGCCTTATGTCAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa17941
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 |
|---|---|---|---|---|---|
| ENSDART00000105215 | Nonsense | 287 | 406 | 4 | 4 |
Genomic Location (Zv9):
Chromosome 17 (position 12307101)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 17 | 12289623 |
| GRCz11 | 17 | 12443689 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CACTTTCTTGTTCCGCCTRTCAGTCKGGAGTGGAAGACCTGAAACGACAA[C/T]AGCAACAAGATCGGGAGAGGATCTCGGYTTTGGAAAAGCAGATTAGTGCC
Long Flanking Sequence:
TCTAGGTCTGCAAAACAATTGCAAATGTGTTTTTTTTTATCTTAATTAACCTTGTGTTTTATCTTTGTCTAGGGAGAGGTGACAATGACAAGATGAGACAACTGGAGGACAAAATCCAGAGGTTGACCAAAGACCTACATGACCTGCAGTCAACACTGCGTGGCATGAATGAGAAATTCCAGGAGGAAATACGCAAACCTGGTATTAATAGTGGCAAAACACCAGCTGATGCAGCTCAGCCTGAAATGAAAGAGACTATCCATAACATTCAGACCAAGCTGGATCAGTTAGACAACCGTACTCAAGCTCATGACAAGACTCTAGTCAGCATAAATAACCACCTTGTGAATGGCAAAGGTGGAGGCAATGAGCTAGATGTTAGTGGAGTAGGGGGAAACAAGTTTAACATCTTGAAGGAGGAAATACTCAGAGAGCTTGAACGTCGAGTGACACTTTCTTGTTCCGCCTGTCAGTCTGGAGTGGAAGACCTGAAACGACAA[C/T]AGCAACAAGATCGGGAGAGGATCTCGGCTTTGGAAAAGCAGATTAGTGCCATGGACCAACGTCACCGCCAGACTCTTGATGGTTTACGCCGAGATCTTAGCCGGTCACAAGGCTGCTGTGATACTGTGACAGACTTCAGAGCACGACTTAATGACATGGACAGAAAGATAAGCTCCACATCAGAAGCGTATGACAAGCTTCAGGACCGTCTGAATAGACAACCAGGAGGAACTGGAGGTGGTGGAAGTATTGGAGGAGGAATAGGTGGACAAGGACAACTCCCTTTAATGCCAGAAGATTTTTTCAGTGACAGTCTAAAAGACCTGGAGAGACGACTCAACAACACTGTTCAGAGAGCAGAGGAAAACTGTGCTTATATGGAAACTAACATACGGGACTCCTTCCAGCAAGATTTCAGAAATATTCGCAATGAATTCAACAATCGTCTTCTTGACCAGGATGAGAGGATTAATGACATAGAACATGATATAGGAAACGTT
Associated Phenotype:
Not determined