ZMP
NP_001071041.1
Ensembl ID:
Description:
sodium channel, voltage-gated, type IV, beta b [Source:RefSeq peptide;Acc:NP_001071041]
Human Orthologue:
SCN4B
Human Description:
sodium channel, voltage-gated, type IV, beta [Source:HGNC Symbol;Acc:10592]
Mouse Orthologue:
Scn4b
Mouse Description:
sodium channel, type IV, beta Gene [Source:MGI Symbol;Acc:MGI:2687406]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa14304 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa14304
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000084868 | Essential Splice Site | 205 | 232 | 5 | 6 |
Genomic Location (Zv9):
Chromosome 5 (position 39522353)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 5 | 37321743 |
| GRCz11 | 5 | 37921896 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTGCTAAAGAACTTAACCCTGTTCATTCTCGCAAAGATGGAGGAAAAAAA[G/A]TGAGTTTATTTATAACACCTTACTATAACTCTTACTCTAAGTTACTCAAT
Long Flanking Sequence:
CCTTTTTTTAATAAGGTGGCAGATTCTGTGATTCCAACTGATCATATGGAGCCAAACAAGGTGCAAATTTACCGTGAGCGGGTGGAGTATGTTGGCTCCAGTAAAGAAAATAACATCTCTATCCTGCTTTGGAATGTCACATTCGAGGACGCAGGCGTCTACACCTGCTTCGGCAAAAACCCCAAAGAGAAGGGCAGGAATCACAGCGCCTTTTTCACTCTCTATGTAGTAGAGGAACGTAAGTGTGGTGGGCAGTGGGAGTGACGGAGGATGAACACATATTTCACATAGTACATATCAAGGTCACTATTAAAATAACTCTACTCGCTTCTTGTTTTGTCTTTTTTTTCTCTTGCTATCGCTTTCTTAGTAAAGGTGGTCGATAACACGCTCACCATCATCATCGCCTCCTGTGTTGGCGGATTCATCGCTTTTCTAATGACCTTCATGCTGCTAAAGAACTTAACCCTGTTCATTCTCGCAAAGATGGAGGAAAAAAA[G/A]TGAGTTTATTTATAACACCTTACTATAACTCTTACTCTAAGTTACTCAATTGACCCTTTACATTGGCCCGACCCTTCTCTATGTCCGACAAGCTTTCAGTATCAGCCATGGTGCTCCACTATGAATTTGTGCACTCCCCATGGAAATGGTTAATAATTTTCAGAAAAATTACATACTGATCTCAAACAGCAGCAGACATACACTCACTGGCCACTTTATTAGGTACACCTTACTATTACTGGGTTGGACCTTCTTTTGCCTTCAGAACTCCCTTAATCCTTCATGGCACAGATTCAACAAGGTACTGGAAATATTTCTCAGAGATTTTGCTCCATATTGACATGATCGCATCGCACAGTTGCTGCAGATTCAAGAAACACACCATTACACTACGACCACCACCAGCCTGAACCGTTGATACAAGGCAGGATGGAGCCATGCTTTCATATTGTTGACGCCAAATTCTGACCCTACCATCCAAATGTAGCAGCAGAACTCGA
Associated Phenotype:
Not determined