ZMP
bscl2
Ensembl ID:
ZFIN ID:
Description:
seipin [Source:RefSeq peptide;Acc:NP_001032473]
Human Orthologue:
BSCL2
Human Description:
Berardinelli-Seip congenital lipodystrophy 2 (seipin) [Source:HGNC Symbol;Acc:15832]
Mouse Orthologue:
Bscl2
Mouse Description:
Bernardinelli-Seip congenital lipodystrophy 2 homolog (human) Gene [Source:MGI Symbol;Acc:MGI:129839
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa37326 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa37326
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 > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000053791 | None | 346 | 350 | 10 | 10 |
| ENSDART00000125249 | Essential Splice Site | 382 | 441 | None | 10 |
Genomic Location (Zv9):
Chromosome 21 (position 26077085)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 26646903 |
| GRCz11 | 21 | 26683598 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTGTGATTGGGACGGAAGACCTGAATAACCAACAAGAGGATGAAACTGG[T/C]AAAAATATTACATAAAACGTAAATCTCATCACAAATGTAATTTTTAAAAA
Long Flanking Sequence:
CTCAATTGTTAGTTGCTTTGGACAAACGCGTCGGCTAAATTAGTAAATTAAATGTCGATGTCTGTTTACACTCACAGGTGATGATAGGAGACTCGACACGTCTTCAGCAGAGACGAGAAGAAGCACGTAAACGCATGCACTCGTCTGCCAGCACTCCTGGTAAAACACCTTACTCACAACCACACACACACATGACTGCATTAACCAGACCGACCAGTCACTAATGCACAATGTCTGACTGTTCCCCAGTTATGACATATGGAAGAGATGGAAGTGAACTACTCTCAGATCCGCTTCAGCATCCCAAACAAACCGTTCGAAACAAAGGTACAGGAGAATGCCTGAGACAAATAGAAATGTGATGATTCTTTGTGACTTGTATCCACAGTAATGGAGAGATTATTTCACTGTAGAATCATGTTTGTTTGTGCAGGTGATTTGGACACTCCTAGTGTGATTGGGACGGAAGACCTGAATAACCAACAAGAGGATGAAACTGG[T/C]AAAAATATTACATAAAACGTAAATCTCATCACAAATGTAATTTTTAAAAAATTTTGTACAACAGTTAAGCAAGCAAAAAGTAAATGAGATGAGAAGATGCTGGTGCTTTTATTATATTTAGTTATTATTATTACTTAATAATTACTTTAATACTTTTATTGCTTTAACATTATTACTTCAATGTTATTATTTTAATATCACTACTAAAGAAGTCGCTTAGGGTGTGTGTTCACACTCTGCAGGTTTGGTTCAATAAAAGAAACTGGTTTTATTCTTCCATTAGTGTAGTTTATAATTATTATGAAATTTGAACCTTGATGCACACTAAAAATAAGTCAGACATCCCTAATGACATACAGTTGAAGTCAGAATTATTAACCCCTCTTTGATTGATTGATTGATTTATTTCATTTTATTTATTTTTTTATATTTCCCAAATAATGTTTACCAGAGCAAGGAAATCTTCACAGTTTGTCTGATAATATTTTTTCTTCTGGAGA
Associated Phenotype:
Not determined