ZMP
scn4ab
Ensembl ID:
ZFIN ID:
Description:
Sodium channel protein type 4 subunit alpha B [Source:UniProtKB/Swiss-Prot;Acc:Q20JQ7]
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 8 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa26050 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa18126 | Essential Splice Site | Available for shipment | Available now |
| sa33152 | Nonsense | Available for shipment | Available now |
| sa18528 | Nonsense | Available for shipment | Available now |
| sa13421 | Nonsense | Available for shipment | Available now |
| sa40056 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa25245 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa13450 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa26050
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000044157 | Nonsense | 237 | 1784 | 6 | 24 |
| ENSDART00000104004 | Nonsense | 236 | 1784 | 6 | 24 |
Genomic Location (Zv9):
Chromosome 3 (position 22492443)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 22148834 |
| GRCz11 | 3 | 22279382 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTAAGAATGTGTCAGCTAAGATTGTGTTTAATTGTGAATTACAGGTCTA[A/T]AAACCATTGTTGGGGCCCTAATTCAGTCAGTAAAGAAACTGGCGGATGTG
Long Flanking Sequence:
CAAAACATGCTTCAAGAAGGTTTACATGAATAAAACACACTCTTGGTTTTAGTCATGTGCTTCGATCTCAGGAAAATGTGACATTTTACTGTATGCTTTGACAAAACAATGCTATAAATAATCTTAATTCTTTAAAATGATCGCCATCACTATAAAATTAAATACAACATGTAAACACACATCAGTAGTAGAGGTTTTATAATAAGAAGATATTCCCAGTGCTGGGTTCATCCGCTTTATAAACCATATGATATATGACCCCTGATAAATTGTCAGTGTTTATATTGAGAAATTAGCATTTTTCCATCATCCCATAGGTACCTCACAGAGTTTGTGGACTTGGGGAATATATCCGCTTTGAGGACTTTCCGTGTTCTCCGTGCCCTGAAAACAATCACTGTAATTCCAGGTAAGCACGGCATGGCTGCTGTATACTGTACATTGTATAATTTTAAGAATGTGTCAGCTAAGATTGTGTTTAATTGTGAATTACAGGTCTA[A/T]AAACCATTGTTGGGGCCCTAATTCAGTCAGTAAAGAAACTGGCGGATGTGATGATCCTCACTGTCTTCTGTCTCAGCGTGTTTGCTCTAATTGGCCTGCAACTGTTTATGGGAAATTTGCGGCAAAAGTGCGTCTTGTGGCCTCCGGTTGGCTGGTACAGTGACAACCTGACAGTGCTCTCCAATTACACAGACATCAATGGAAATGGAACTGCCAACAGCACTTTTGACTACCAGAAATATATTAACAGTGAAGGTGACTTGTGTCTTATTTACATTAGTAACCTGATGTATATTGATTAATGTATCAGCAGGAGACATGAGTGTTAATTCAGTTTTGGTTATGTATGACTTTGTTTTTTGGTCACAATTTACAATAAGTTTTCATTAGCTAATTTTTAGACCATGGCTTCTAGCATATGTCACAAGAGCACCTTTTGAGGTGAGAGTAGTGAGGTTGAGGTAGTGAGGTCACCTGCATAGCACTTCGCAGTAACCCAC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18126
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 |
|---|---|---|---|---|---|
| ENSDART00000044157 | Essential Splice Site | 390 | 1784 | 8 | 24 |
| ENSDART00000104004 | Essential Splice Site | 389 | 1784 | 8 | 24 |
Genomic Location (Zv9):
Chromosome 3 (position 22494795)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 22151186 |
| GRCz11 | 3 | 22281734 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTCTTTTCCGGCTCATGACTCAAGATTTCTGGGAGAACTTGTTCCAGTTG[G/A]TAGGTATATGCATCCTGTTGGATTCTTATTCCTTGCCATCTTWCATGTTY
Long Flanking Sequence:
CTACTATGTGCCAGGCCAGATGGATCCTTTAGTTTGTGGGAACAGCTCGGACGCAGGGTATGTTCTGCTGATATTTATTTTATATTGCTTCATGCTTTTAAATAACACTGCACAAGGCTAATTGTCTGTATGTGTATATTAAAGCAGTGTTTCTCAACCACGTTCCTGTGGGACCACCAACACTACATGATTTAGATGTCTCATTTGTCTGTCACATCCATTACAGGTCTTTTAGTCTCTGCTGATGATCTGAATCAGGAGTGCTTGGTTAAGGAGACACGGAAAATGTGCGGAACTGGTGGTCCTCCAGGAATGTGGTTGAGAAACACTGTATTAAAGGAGCTGTTGCTTTTCACAGGTTGTGTCCTGAGGGTTACATATGCCTGAAAGCTGGCCGAAATCCTAATTATGGCTACACCAGTTATGACAACTTTGGTTGGGCTTTCTTAGCTCTTTTCCGGCTCATGACTCAAGATTTCTGGGAGAACTTGTTCCAGTTG[G/A]TAGGTATATGCATCCTGTTGGATTCTTATTCCTTGCCATCTTACATGTTTAACTCAATTCATGTTTAATTATATAGCACTTTTCACAATGTAGATTGTTTTAACGCAGCTTAACGTAGTTCTAGATGGTCTGCATGAGCACACAAAGGAACCTCACAAAAAATATTTCAGACAGCAGAAGTGTGACTGTGTAATGAGTCAGTCATGTAATAAATAGAGACAGCTTTGGTGATACCTAAGGGAATATTTGCTTACTGAAATACTAACTTATCACTAGAAATGCCATGAAAAGTGGAAAATGATGATGAAATGCACTGGATTATAGGATATCAAAGGCAGTGAAGGGCACATCTATGATGTCTGTGGAAATTTATCAGCGATTCCTTCTGAGACAGGAAAATTAGCAGAATTTGAATTTGCATGTGTTTTGATGCCTTCCTGCCTTCAATTTAAGAGCTTTCAGACACAGTCATCATATTACTCGCATTCTTACATGTGATA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa33152
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000044157 | Nonsense | 466 | 1784 | 10 | 24 |
| ENSDART00000104004 | Nonsense | 465 | 1784 | 10 | 24 |
Genomic Location (Zv9):
Chromosome 3 (position 22496572)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 22152963 |
| GRCz11 | 3 | 22283511 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGCCTGTTTTCATGTCACGCAGCAGAAGAACGGGATGGTAAATGGCAGC[A/T]AGACATCCCTGTCAAGCAAAAAGAAAGGTGATAATGATCAAATGCAAAGC
Long Flanking Sequence:
GACAAAAAAAGTATATATACTTTATATATACGATATAATTTATATGTATCTTATTTTCTGGCAGTTATTTTCTAACAGACATCAAAACAGATGCCCCTAGTACTATATACAAGATATAGATTAATCTTTTAAAAAAACTACTCAAATAGCAGCACTAAAGTATTTTTCAAATGTTTCAGACTCTCCGTGCAGCAGGAAAGACGTACATGATCTTTTTTGTGGTCATCATCTTCTTGGGTTCGTTCTACCTCATCAATCTGATTCTGGCTGTGGTGGCCATGGCCTATGCTGAACAAAACGAAGCCACCGCTGCAGAAGCTAAAGAGAAGGAGGAAGAGTATGCAAAAATCATGGAGCAACTCAAGAAACAAGCTGAGGTTTGTTATCATTACTGTTAATTGAAACCTTCCCAACGTTCATTCGGAAAAACACTAGTTAATCACTCTGATTTTGCCTGTTTTCATGTCACGCAGCAGAAGAACGGGATGGTAAATGGCAGC[A/T]AGACATCCCTGTCAAGCAAAAAGAAAGGTGATAATGATCAAATGCAAAGCGACTATGATGGGATTGCATTGAAACCCCTCTCGAAATCCAATGGATCCAAAGGCAACATAAATTACTTGGAAGTTCCTGACTCACAGATACGAAAACCAAGTGTGGTGAGCGCTGTAGAGAGTGCTTTAGATGGTAAGTTCATTTTTTAGTTTAGTGTGTGTTAGAACATAGAGTTTAGGGTGGAATAAACATTTTAGCATTTCATTATAATGTTTATTATTTATCATATGATGGTTTTAATATTTTTACATGTAACTTATTCATGTACAAATGTTACTACAACATGATTCATTGAAAACTTGCAAAAATATTTAGTCAATCATTTCTAATTAAACTTTAAGAATTTGAATTTTAACGATTTAGGTGCAAAGTCTAAAGCGCATGGTGCAAAAGCATTAAGGGCGGGCCCGAATCCACTTTTAAGGACGGCTAATTTAAAGACAGAAAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa18528
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 |
|---|---|---|---|---|---|
| ENSDART00000044157 | Nonsense | 484 | 1784 | 10 | 24 |
| ENSDART00000104004 | Nonsense | 483 | 1784 | 10 | 24 |
Genomic Location (Zv9):
Chromosome 3 (position 22496628)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 22153019 |
| GRCz11 | 3 | 22283567 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCCCTGTCAAGCAAAAAGAAAGGTGAYAATGATCAAATGCAAAGYGACTA[T/A]GATGGGATTGCATTGAAACCCCTCTCGAAATCCAATGGATCYAAAGGCAA
Long Flanking Sequence:
TCTGGCAGTTATTTTCTAACAGACATCAAAACAGATGCCCCTAGTACTATATACAAGATATAGATTAATCTTTTAAAAAAACTACTCAAATAGCAGCACTAAAGTATTTTTCAAATGTTTCAGACTCTCCGTGCAGCAGGAAAGACGTACATGATCTTTTTTGTGGTCATCATCTTCTTGGGTTCGTTCTACCTCATCAATCTGATTCTGGCTGTGGTGGCCATGGCCTATGCTGAACAAAACGAAGCCACCGCTGCAGAAGCTAAAGAGAAGGAGGAAGAGTATGCAAAAATCATGGAGCAACTCAAGAAACAAGCTGAGGTTTGTTATCATTACTGTTAATTGAAACCTTCCCAACGTTCATTCGGAAAAACACTAGTTAATCACTCTGATTTTGCCTGTTTTCATGTCACGCAGCAGAAGAACGGGATGGTAAATGGCAGCAAGACATCCCTGTCAAGCAAAAAGAAAGGTGATAATGATCAAATGCAAAGCGACTA[T/A]GATGGGATTGCATTGAAACCCCTCTCGAAATCCAATGGATCCAAAGGCAACATAAATTACTTGGAAGTTCCTGACTCACAGATACGAAAACCAAGTGTGGTGAGCGCTGTAGAGAGTGCTTTAGATGGTAAGTTCATTTTTTAGTTTAGTGTGTGTTAGAACATAGAGTTTAGGGTGGAATAAACATTTTAGCATTTCATTATAATGTTTATTATTTATCATATGATGGTTTTAATATTTTTACATGTAACTTATTCATGTACAAATGTTACTACAACATGATTCATTGAAAACTTGCAAAAATATTTAGTCAATCATTTCTAATTAAACTTTAAGAATTTGAATTTTAACGATTTAGGTGCAAAGTCTAAAGCGCATGGTGCAAAAGCATTAAGGGCGGGCCCGAATCCACTTTTAAGGACGGCTAATTTAAAGACAGAAAAATAAGGTTTGCGTATGGTCTAACATGGTTGTGCTTATTTTCTTTTTGAGTTATGGGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13421
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000044157 | Nonsense | 758 | 1784 | 13 | 24 |
| ENSDART00000104004 | Nonsense | 757 | 1784 | 13 | 24 |
Genomic Location (Zv9):
Chromosome 3 (position 22502188)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 22158579 |
| GRCz11 | 3 | 22289127 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTCCTCATCATCTTTCGTGTTCTGTGCGGCGAGTGGATTGAAACTATGTG[G/A]GACTGCATGGAGGTGGCTGGTCAAGGCATGTGCAKCATCGTCTTCATGAT
Long Flanking Sequence:
GCAAAATCTGCAACAAAAAAATTTTGTAGTTTGTAGTAAAAAGTTTTTTGCAATAACTTTATTTTAAACGTATTGTCTTTCCATTCCTTAAGATGTTCAGAGACCAAACTCTTTATTTTGATGAATAATTACTGTTTAATAAATTTTCCTTTTTTCCTTTATATAATAATAATTTCCCTCCATTATATAAAAATCTCTTGTGGAATGGTTGGTTCGCAGATGCGTGTGTTCAAGCTGGCAAAGTCCTGGCCAACCCTAAACATGCTGATAAAGATCATCGGCAACTCTGTGGGCGCCCTTGGGAATCTGACCCTCGTCCTGGCCATTATCGTCTTCATCTTTGCCGTGGTGGGGATGCAGCTTTTTGGAAAAAGCTACACAGACTCTGTGTGTAAAATCTCATCAGATTGCGAGCTCCCTCGCTGGCACATGGCAGATTTCTTTCACGCCTTCCTCATCATCTTTCGTGTTCTGTGCGGCGAGTGGATTGAAACTATGTG[G/A]GACTGCATGGAGGTGGCTGGTCAAGGCATGTGCATCATCGTCTTCATGATGGTCATGGTTATAGGAAACCTAGTGGTGAGTGTATTAATGCAATCTTTACTAAACAGACAGATGTATGTACTTGATTATACAGTTTGTAATAGAAGTCACAAAACGTGGATGTCAAACTAAGAGGAATTAACTAGCAATGGATTTTTTAAAAAGAGTTTTAACAAATCTGCATTGCAGTAGTTTTTAATTACAGAAAAATTAAGATTGGCCTGGCCTAGCTGGTGTTGATTTTGGCATTGATTATCAGACTGCAGAAAATAACACTTTCATTTAAATGATCTTTAAATAATCCATTAAAATAATTCTTTCTATCTCATAGGCCTACATTTATTTTAATAAGCAACATACTTTAAATCGAACAACCTGAGACATTGCACAAGCAAGAGACAGGCCACACAGTTGTGTATAGTACACTGGAAAATGCGTAGCTCACATTTATTTTGTAATAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa40056
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:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000044157 | Nonsense | 1004 | 1784 | 17 | 24 |
| ENSDART00000104004 | Nonsense | 1003 | 1784 | 17 | 24 |
Genomic Location (Zv9):
Chromosome 3 (position 22513447)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 22169838 |
| GRCz11 | 3 | 22300386 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTTTATTTAGGCTTTTGAGGACATTTACATTGAACAGCGGAGAATGATT[A/T]AGATCATCCTTGAATATGCAGACCAGGTCTTCACCTATGTGTTTGTGGTT
Long Flanking Sequence:
TGCAGTGTTTTGATCTGGACAGAAGAAAAATGGAGATGAATCATCCACCTGCAGTACAGTGGACAAACCTCCTGAGGTAGAAGATCTTGTAGAAGAGGAAGAGGAGGATCTCACTAGCCCTGAGGACTGCTACACTGAGAGTCAGACATCAACCACGACTTAACACTGTTAATGTTGCTGAATTATCTTCTGGTTATCAGCACGTTTGTTTGTCTTCGTTCTCCAGACTGCATCAGGCGATGTCCTTGCTTGGATCTGGACGTTAGCCAAGGTAAAGGCAAAGCATGGTGGAACTTCCGGAAAACCTGCTTCGCCATTGTGGAGCACAGCTATTTTGAGACCTTCATCATCTTCATGATTCTCCTTAGCAGCGGAGCTTTGGTAAGTTGTTTGTAAAACCAGATCAACCCACTGATTTCTCTTCTTTTTAAATAAGTATGTTTGTTTGTTGTTTTATTTAGGCTTTTGAGGACATTTACATTGAACAGCGGAGAATGATT[A/T]AGATCATCCTTGAATATGCAGACCAGGTCTTCACCTATGTGTTTGTGGTTGAGATGCTTTTGAAATGGGTGGCCTATGGTTTCAAGGTCTACTTCACAAACGCTTGGTGTTGGCTTGACTTTCTCATTGTTGATGTAAGTACAATTTTATCTGTCGTCGAAAAGTCCTGGGGACTATAGCTTTGTTTCCATCCACCTATTTTCATGCGCATTTTGGATTAACGCATAAAAAAATGCTTGATGAAAACACCAAGATGTGCATAAAATAAGAAAATTCGCATTAAAAACCAATGTGCACAATTAAGTAGGATCAACTTTTTATTCGATTAGAAAAAATGTGCATAAACAAAAATGGAAACGCTTTTACCAAATAAATTCAAGTATGTGCGTTAAAAAATTGCATGTAATTTCATTATAAGAGATCATGCACTGTAAAAAATATAATGACAAAAAGTCACAGCAACAAATATTTGTATGTTACTTTAACTTATTATAATAACT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa25245
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:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000044157 | Nonsense | 1016 | 1784 | 17 | 24 |
| ENSDART00000104004 | Nonsense | 1015 | 1784 | 17 | 24 |
Genomic Location (Zv9):
Chromosome 3 (position 22513485)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 22169876 |
| GRCz11 | 3 | 22300424 |
KASP Assay ID:
554-7823.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGGAGAATGATTAAGATCATCCTTGAATATGCAGACCAGGTCTTCACCTA[T/A]GTGTTTGTGGTTGAGATGCTTTTGAAATGGGTGGCCTATGGTTTCAAGGT
Long Flanking Sequence:
AATCATCCACCTGCAGTACAGTGGACAAACCTCCTGAGGTAGAAGATCTTGTAGAAGAGGAAGAGGAGGATCTCACTAGCCCTGAGGACTGCTACACTGAGAGTCAGACATCAACCACGACTTAACACTGTTAATGTTGCTGAATTATCTTCTGGTTATCAGCACGTTTGTTTGTCTTCGTTCTCCAGACTGCATCAGGCGATGTCCTTGCTTGGATCTGGACGTTAGCCAAGGTAAAGGCAAAGCATGGTGGAACTTCCGGAAAACCTGCTTCGCCATTGTGGAGCACAGCTATTTTGAGACCTTCATCATCTTCATGATTCTCCTTAGCAGCGGAGCTTTGGTAAGTTGTTTGTAAAACCAGATCAACCCACTGATTTCTCTTCTTTTTAAATAAGTATGTTTGTTTGTTGTTTTATTTAGGCTTTTGAGGACATTTACATTGAACAGCGGAGAATGATTAAGATCATCCTTGAATATGCAGACCAGGTCTTCACCTA[T/A]GTGTTTGTGGTTGAGATGCTTTTGAAATGGGTGGCCTATGGTTTCAAGGTCTACTTCACAAACGCTTGGTGTTGGCTTGACTTTCTCATTGTTGATGTAAGTACAATTTTATCTGTCGTCGAAAAGTCCTGGGGACTATAGCTTTGTTTCCATCCACCTATTTTCATGCGCATTTTGGATTAACGCATAAAAAAATGCTTGATGAAAACACCAAGATGTGCATAAAATAAGAAAATTCGCATTAAAAACCAATGTGCACAATTAAGTAGGATCAACTTTTTATTCGATTAGAAAAAATGTGCATAAACAAAAATGGAAACGCTTTTACCAAATAAATTCAAGTATGTGCGTTAAAAAATTGCATGTAATTTCATTATAAGAGATCATGCACTGTAAAAAATATAATGACAAAAAGTCACAGCAACAAATATTTGTATGTTACTTTAACTTATTATAATAACTTGTCCAGGTTTCAATTAAATGTTTTAAGTTATACTAAG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa13450
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000044157 | Nonsense | 1523 | 1784 | 24 | 24 |
| ENSDART00000104004 | Nonsense | 1523 | 1784 | 24 | 24 |
Genomic Location (Zv9):
Chromosome 3 (position 22527208)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 22183599 |
| GRCz11 | 3 | 22314147 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CGAGGAAACTGTGGGAACGCRGCGGTGGGCATYGTGTTCTTCTGCAGCTA[C/A]ATYGTCATGTCCTTCCTCGTYGTKGTCAACATGTAYATAGCCATTATCCW
Long Flanking Sequence:
ATGACTGGACAATAATCTTTTCTTGTAATTTTGTTTTGCCGTCTCACAGGTATTGGGCTGGCAGACCTTATTGAGAAGTACTTTGTGTCACCTACCCTGTTTCGTGTCATCCGATTGGCCAGAATTGGCCGCGTCCTGAGGCTCATTCGGGGTGCGAAGGGAATCAGAACATTACTGTTTGCGCTGATGATGTCACTTCCTGCCCTCTTCAACATTGGCCTCCTCCTGTTCCTAATCATGTTTATTTTCTCCATATTCGGCATGTCCAACTTTGCGTATGTGAAAAAAGAAGTCGGCATTGACGACATGATGAATTTCGAGACCTTCGGGAACAGTATCATATGCATGTTCATGATCACTACATCCGCTGGCTGGGATGGACTGTTGGCGCCTATTCTCAACTCCCCACCAGACTGCGATCCGGATGTGGATAACCCAGGTTCAACTACCCGAGGAAACTGTGGGAACGCGGCGGTGGGCATCGTGTTCTTCTGCAGCTA[C/A]ATTGTCATGTCCTTCCTCGTTGTGGTCAACATGTATATAGCCATTATCCTGGAAAACTTCAACGTAGCAACGGAAGAAAGCAGCGACCCCTTGTGCGAGGATGACTTTGAGATGTTTTATGAAACTTGGGAGAAATTCGACCCCACCGCCTCTCAGTTCATTGATTACAATAGACTGTCGGAATTCTGCGATACGCTAAAAGACCCTTTGAGAATCCCCAAACCGAACACCCTCAAGCTGATTACAATGGATATTCCCATGGTTACGGGGGATAAGATCCACTGTCTTGACCTCCTCCTGGCACTCACTGGAGAAGTGCTGGGTGGTTCTGACCAGATGGATGGTATGAAAGCAACTATGGAGGAGAAGTTCATGGCAAACAACCCTTCCAAGGCCTCCTATGAGCCCATTACCAGCACTCTCAAACGAAAACAAGAAGAAGTGGCTGCTTCCACCATTCAAAGAGCCTATCGCTCGCACATCCTCAAACGCTGCGTCAA
Associated Phenotype:
Not determined