ZMP
NP_001093459.1
Ensembl ID:
Description:
spectrin beta chain, brain 1 [Source:RefSeq peptide;Acc:NP_001093459]
Human Orthologue:
SPTBN2
Human Description:
spectrin, beta, non-erythrocytic 2 [Source:HGNC Symbol;Acc:11276]
Mouse Orthologue:
Spnb3
Mouse Description:
spectrin beta 3 Gene [Source:MGI Symbol;Acc:MGI:1313261]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa12446 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa12446
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 |
|---|---|---|---|---|---|
| ENSDART00000097723 | Nonsense | 129 | 2393 | 3 | 42 |
Genomic Location (Zv9):
Chromosome 5 (position 39277426)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 37077110 |
| GRCz11 | 5 | 37677263 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCAGGATCGGTGACCTYTACACTGAYCTCCGCGATGGACGCATGCTYATT[C/T]GACTGCTGGAGGTTCTCTCCGGGGAACAACTGGTCAGTATACCTTCAGTC
Long Flanking Sequence:
GGTGCGCTGCAGTAATTGAGTTGCTTTAATAGAGTTTAGAGTTACAGTCAGTCCTTGGTCACTGCATGTCATTCATGAATGTTCATTTTATGCACTGTTGTAAAATTCAGGTCCTGACATGGCTTGTGTTATATAGTATTATGGAGAATTGTTTTCCAGCCTTTAAATTGGGCACCTATTACTACTACTATTTATTATATGTTTGTATTTGTGGGGGGATAATGTTTTTAGATTCATTTACAGTGTTAATGGTTATTGGATGTTGCTTTTTCTCTAAAATGATTATGCTACAAATGATTAACTACACAGAATTAAGCTGCTAGGTTTACAGATGTTAGGCTACAGATTGTTCTTTGACCTCCAAACCTCTTTTTTTTCCAGATGAGAGAGAGGCAGTGCAGAAGAAGACCTTCACTAAATGGGTGAACTCTCACCTGGGTCGTGTGACCTGCAGGATCGGTGACCTCTACACTGACCTCCGCGATGGACGCATGCTTATT[C/T]GACTGCTGGAGGTTCTCTCCGGGGAACAACTGGTCAGTATACCTTCAGTCATTCCATCAATCCATGGAGTCATCAGTCCGTCTGTGCATCTATGCTTATTTCCATCAATTTTCATTGCATATTTTTAGCTATATGTGCATTCATTCATTCATTGCTTGGATCATTCATCCATCCATGTATCTATGCTTCAACCTTTTTATTCATTTCCATTCATCCATATTTAATGCATCCATCCATTCCTCCTCATTCAATCCACCCATCATCCATCATTTAATGCATCCATCCATCCATGTTTATTCAATGCATCCATTCATCCATATATCCTTTAATGCGTGCATCTATTCATCCATCCATGTTTAATGCATCCATATATTCAGCCATCCATTCAAGTTAAATGCATCCATCCATCCATCCATCCATGTTCAATGCATCCATCTATCCATCCATACCATACATGTTCAATGCATCCATCCATCCATTCATCCATCCATGTTTAATGT
Associated Phenotype:
Not determined