ZMP
scn4aa
Ensembl ID:
ZFIN ID:
Description:
Sodium channel protein type 4 subunit alpha A [Source:UniProtKB/Swiss-Prot;Acc:Q2XVR3]
Human Orthologue:
SCN4A
Human Description:
sodium channel, voltage-gated, type IV, alpha subunit [Source:HGNC Symbol;Acc:10591]
Mouse Orthologue:
Scn4a
Mouse Description:
sodium channel, voltage-gated, type IV, alpha Gene [Source:MGI Symbol;Acc:MGI:98250]
Alleles
There are 5 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa1270 | Essential Splice Site | Available for shipment | Available now |
sa31853 | Essential Splice Site | Available for shipment | Available now |
sa13933 | Essential Splice Site | Available for shipment | Available now |
sa16761 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa1270
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 |
---|---|---|---|---|---|
ENSDART00000010588 | Essential Splice Site | 500 | 1829 | 11 | 25 |
ENSDART00000106534 | Essential Splice Site | 500 | 1829 | 11 | 25 |
Genomic Location (Zv9):
Chromosome 12 (position 5983421)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 4839617 |
GRCz11 | 12 | 4874574 |
KASP Assay ID:
554-1185.1 (used for ordering genotyping assays)
KASP Sequence:
AAGAAAGCTTTACCATATTTAAACATGCTTACTATTTTATGTATCTTTCA[G/A]TTATCAGCAGAAGAGGACCAGAAGTCTCTGAGTTCAAAACACAGCATGCA
Long Flanking Sequence:
ATGCCAGTATGACTGATGTCATGCACCATGCCAGTCAGTTGCTTATTCAACTAGTCATTAGTCTAGCATCTCTTTTGCATTGTCACCATCGCACTGTGGTGCTAAAACTGCAGTGTAAATTGATCCAGTGATAGAATGTTATTGCAAACAATTGGTTGCTAAGGATGTTTATCAACCAACATCCAATCACGTGTCTCAAATTTACATGCATTAGACAATTATGAAATCATTGAACAAGGTATATGAACAGTAGTTTTAGCATTTGATGGGCAAGATACAGATACATGTTTAAAAGCATGATCATTTTGTCACAATATACTTTTTCGCATCACCCTTTTTCTCAGATAATTTCAAAATCTTAATTCAAAAAGTATTGTTTTGTTTACATGAAGTAATTTGAACTACAAACTAGAACATTGCTGTAATTGCATCACTATTAAAAAAACTGGCAAGAAAGCTTTACCATATTTAAACATGCTTACTATTTTATGTATCTTTCA[G/A]TTATCAGCAGAAGAGGACCAGAAGTCTCTGAGTTCAAAACACAGCATGCAGTACTTGGACCAGCCCAAACTCTCCAAGAGAACAGCTAGTGCTCTCAGTGTACTCACTGCAACTATGGAGGGTAACCTGGCTTAAAGAGTTACTGGCTTATATTCAATTCATTTTATATCTCATTAAGTAGCTTTGACACCTACCGTAGGAGCATATTTAGAAGCATTCTTAATAGGGATGCACAATAGTTTTGGAAAGCCCTTGAAATGAAAACATAGTATCAGACCGATATAAAAATAGTGCATTGACTAACTTTTTTGTCCTTTTTATAAAGAAATAACATGCACCCTTTGTTATGGTACTCTTGAACAATGACTGTTATGAATTGCATTAAATTGAGTTTAATTGAATTGAATTGAATTGAATTGAATTGAATTGAATTGAACTGAATTGAATTTAACATGCCAAGTAGCCAGAAACAATTCTGAAACCCAGTTCCAGTAGTGGAA
Associated Phenotype:
Normal
Stage | Entity | Quality | Tag |
---|---|---|---|
Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |
Mutation Details
Allele Name:
sa31853
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 |
---|---|---|---|---|---|
ENSDART00000010588 | Essential Splice Site | 1396 | 1829 | 24 | 25 |
ENSDART00000106534 | Essential Splice Site | 1396 | 1829 | 24 | 25 |
ENSDART00000010588 | Essential Splice Site | 1396 | 1829 | 24 | 25 |
ENSDART00000106534 | Essential Splice Site | 1396 | 1829 | 24 | 25 |
Genomic Location (Zv9):
Chromosome 12 (position 5966591)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 4856447 |
GRCz11 | 12 | 4891404 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTGGCTGGAACGTCTTTGATTTTGTTGTAGTCATCCTTTCTATTGCAGG[T/C]AAGTGTAGAATACAGCAGGTTCATTAGAAAGACGTGTGAAAGGACATTAT
Long Flanking Sequence:
TGATTAACTGAAAGAATAATCAATATTTGTTTTTTCTGCACTTTGGAGGGAAAGACATTTTCATGACTGAGGAACAGAAAAAGTATTACAATGCCATGAAGAAGCTGGGTGCAAAGAAACGTCCAAAACCTATACCTCGACCATCAGTAAGAAACATTTTTAATTGATCCATTGCTGGATTTATAACTAAGTTATATTTATTAATGCAATCTTCTCTTCTCCAAACAGAATATTATCCAGGGTTTGGTGTTTGACTTCATATCAAAACAGTTCTTTGACATTTTTATCATGGTGCTAATCTGCCTCAACATGGTGACCATGATGATAGAGACGGATGACCAGAGTGCTGAGAAAGAATATGTCCTGTACCAGATCAATCTGGTCTTCATCGTCGTCTTCACAAGTGAATGTGTACTTAAATTATTTGCACTCAGACAGTACTTTTTCACTATTGGCTGGAACGTCTTTGATTTTGTTGTAGTCATCCTTTCTATTGCAGG[T/C]AAGTGTAGAATACAGCAGGTTCATTAGAAAGACGTGTGAAAGGACATTATTAAATTGACATGTTTCGTTGCACTTTCTAAATGAAGTGTGCAGAGATTTTATGTTAAGTTTGAACCGAAACTGTTAAATGTGAAAGTGTTTTATCAGCTTATGGCTCATTCTCTTTAAATAAACCATGTTCTTAATATAAATATAATGCAATCAACTGTGAGATAAAAATATAACCATTTTAACTTGCTTTTGCAAGTATTTAGAACATTTCATGGAACTCACACCCAAATGCCACACATTGCAAGCGTGGTGTTATTTTTCCCCCAATGTGCTTATACTAGTATAAAATTAGTTGTTCAAGATTCAATTTCGTTCATCATAGAGATTTGGAAAATTGTATGTATTAAATGTTCTAAAAGGGTGTGTTCACACTTTTTTTTTGGTCGGAACTGAAAAAGAAAATTATACATTTAGTTCTGTTTGCTTAGGCTTCACACTTAAACTCTGTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13933
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000010588 | Essential Splice Site | 1396 | 1829 | 24 | 25 |
ENSDART00000106534 | Essential Splice Site | 1396 | 1829 | 24 | 25 |
ENSDART00000010588 | Essential Splice Site | 1396 | 1829 | 24 | 25 |
ENSDART00000106534 | Essential Splice Site | 1396 | 1829 | 24 | 25 |
Genomic Location (Zv9):
Chromosome 12 (position 5966591)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 4856447 |
GRCz11 | 12 | 4891404 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATTGGCTGGAACGTCTTTGATTTTGTTGTAGTCATCCTTTCTATTGCAGG[T/A]AAGTGTAGAATACAGCAGGTTCATTAGAAAGACGTGTGAAAGGACRTTAT
Long Flanking Sequence:
TGATTAACTGAAAGAATAATCAATATTTGTTTTTTCTGCACTTTGGAGGGAAAGACATTTTCATGACTGAGGAACAGAAAAAGTATTACAATGCCATGAAGAAGCTGGGTGCAAAGAAACGTCCAAAACCTATACCTCGACCATCAGTAAGAAACATTTTTAATTGATCCATTGCTGGATTTATAACTAAGTTATATTTATTAATGCAATCTTCTCTTCTCCAAACAGAATATTATCCAGGGTTTGGTGTTTGACTTCATATCAAAACAGTTCTTTGACATTTTTATCATGGTGCTAATCTGCCTCAACATGGTGACCATGATGATAGAGACGGATGACCAGAGTGCTGAGAAAGAATATGTCCTGTACCAGATCAATCTGGTCTTCATCGTCGTCTTCACAAGTGAATGTGTACTTAAATTATTTGCACTCAGACAGTACTTTTTCACTATTGGCTGGAACGTCTTTGATTTTGTTGTAGTCATCCTTTCTATTGCAGG[T/A]AAGTGTAGAATACAGCAGGTTCATTAGAAAGACGTGTGAAAGGACATTATTAAATTGACATGTTTCGTTGCACTTTCTAAATGAAGTGTGCAGAGATTTTATGTTAAGTTTGAACCGAAACTGTTAAATGTGAAAGTGTTTTATCAGCTTATGGCTCATTCTCTTTAAATAAACCATGTTCTTAATATAAATATAATGCAATCAACTGTGAGATAAAAATATAACCATTTTAACTTGCTTTTGCAAGTATTTAGAACATTTCATGGAACTCACACCCAAATGCCACACATTGCAAGCGTGGTGTTATTTTTCCCCCAATGTGCTTATACTAGTATAAAATTAGTTGTTCAAGATTCAATTTCGTTCATCATAGAGATTTGGAAAATTGTATGTATTAAATGTTCTAAAAGGGTGTGTTCACACTTTTTTTTTGGTCGGAACTGAAAAAGAAAATTATACATTTAGTTCTGTTTGCTTAGGCTTCACACTTAAACTCTGTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa16761
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000010588 | Nonsense | 1472 | 1829 | 25 | 25 |
ENSDART00000106534 | Nonsense | 1472 | 1829 | 25 | 25 |
Genomic Location (Zv9):
Chromosome 12 (position 5965646)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 12 | 4857392 |
GRCz11 | 12 | 4892349 |
KASP Assay ID:
2260-4908.1 (used for ordering genotyping assays)
KASP Sequence:
TTCCTGATCATGTTCATCTTCTCCATCTTTGGMATGTCTAACTTTGCCTA[T/A]GTGAAAAAGCAGGCAGGCATCGATGACATCTTCAACTTTGAAACATTTGG
Long Flanking Sequence:
AAAAGAAAATTATACATTTAGTTCTGTTTGCTTAGGCTTCACACTTAAACTCTGTAAATAGGGTAGTAAAAAGGATGCCTGTAGTCTGTATTTACATGTGATGGGTACATCATGACTATGATGAGAACAAACAGATAAGTTCACACTTACCCAAATGAACCACAATAATTGAATCAAACCTGCCAAGTGTGAATACACCCTGAGTGTGCCTCTGTGTAAACTCTCCTACTGTTATTGCTCTAAGTAAAACCGCAATTTCCTCTTTCCCTAGGTCTAATGTTATCAGACATCATTGAGAAGTACTTTGTGTCTCCTACTTTGTTTCGTGTCATCAGACTTGCAAGAATCGGCCGTGTGCTGCGTCTCATCAGAGGGGCGAAGGGCATTCGGACCCTTTTGTTTGCCTTGATGATGTCACTTCCTGCCCTTTTCAACATTGGACTGCTTCTGTTCCTGATCATGTTCATCTTCTCCATCTTTGGCATGTCTAACTTTGCCTA[T/A]GTGAAAAAGCAGGCAGGCATCGATGACATCTTCAACTTTGAAACATTTGGTGGCAGCATTATCTGCCTGTTTGAGATCACAACCTCGGCAGGCTGGGACGGCCTTCTGCTGCCTATTCTAAACAGTGGCCCTCCTGATTGTGACCCTGACTTTGAAAACCCTGGTACAGATGTGCGGGGAAACTGCGGGAATCCTGGCATGGGCATCATGTTTTTCTGCAGTTACATCATCATGTCATTCCTGGTGGTCGTGAACATGTACATCGCCATCATTCTGGAGAACTTCAACAATGCTCAAGAGGAAAGTGGAGACCCGCTCTGTGAGGATGACTTTGATATGTTTGATGAAACATGGGAAAAGTTTGACGTCGATGCTACGCAGTTTATTGAATACGACCGCTTGTTTGACTTTGTCGATGCCCTGCAGGAGCCTTTACGAATTGCCAAACCCAACCGTCTCAAGCTGATCTCCATGGACATCCCCATTGTAAACGGCGACAA
Associated Phenotype:
Not determined