ZMP

ENSDARG00000090724

Ensembl ID:

ENSDARG00000090724

Human Orthologue:

SCN8A

Human Description:

sodium channel, voltage gated, type VIII, alpha subunit [Source:HGNC Symbol;Acc:10596]

Mouse Orthologue:

Scn8a

Mouse Description:

sodium channel, voltage-gated, type VIII, alpha Gene [Source:MGI Symbol;Acc:MGI:103169]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa12084	Nonsense	Available for shipment	Available now
sa25928	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa12084

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Order Allele From ZIRC
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Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000022382	Nonsense	91	746	3	17
ENSDART00000128198	Nonsense	189	397	5	9

Genomic Location (Zv9):

Chromosome 2 (position 52588616)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	52391985
GRCz11	2	51984747

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TCAGTGTCTTCGCTCTGATCGGTCTGCAGCTCTTCATGGGGATCCTGAGA[C/T]MGAAGTGCGTCCGCAGCATCGGCCACTGCGTYAACTCCAYATACCCCGGA

Long Flanking Sequence:

GACTCGAACCAGAGACCTTCTTGCTGTGAGGTGACAGTGCTAACCACTGAGCCACCATGTTGCCCCACTACAATATTACTTTGGTCAGAAACAACTTAATTTAATTAATATTTACTCCTACAGGTCTTTTTACAATGTATATCGCTTCAAAGCAGCTTAACATAGATGAAGTTCTAGTAAATTGAAGCTGCTTCAGTTCAGTTTAGTAGTTTGGTATTTTCTAGTCCTGTTTCCACATTGTAGATCCTGCGATGTGACACACGTTGCAATATCAATGCTAAAACGATATACCGCGCAGCCCTATAGCTAATATGTACTATTCTATAAAACACTCTATAAATACATTTGACTCAAGTCTTTCCATCTCTCCAGGTTTGAAGACCATTGTCGGTGCTCTGATCCAGTCGGTGAAGAAGCTGGCGGACGTGATGATCCTCACGGTTTTCTGTCTCAGTGTCTTCGCTCTGATCGGTCTGCAGCTCTTCATGGGGATCCTGAGA[C/T]AGAAGTGCGTCCGCAGCATCGGCCACTGCGTCAACTCCACATACCCCGGAAACGGGAGCTTCGTCTGCAACAACAAGACCTGGCTTTCTGTCAAAGACTTCCTCACTAATGAAGGTGCAGATCATTTATTTTGAATTAGACACATTCTAGAATTGCGGGAACATTTCAAGCATGCTTGAAATCAATTTGAGTACTGAATTTTTTAGGCACACATCAAATTAAAACTAACCATATTGATTTTTCATTAGCTCACATTGCTAGTTTTGTGGTGCATCTGTGCATGTCATTAAGAAAAAAACAATAGTTTACCCTCATAATCTATAACTGAAATATAAAAATGCACTTCCCGTTTGTTTTCAGTTAAACTTTCAGATTCCGTCTGTCTAATGTATTGGGCGTGGCTAACATACATAACCACGTTCCTACTGCTGTCAGTATTGACGACAAACAGAAATGGTGAGCAGGAGGAGTCTGTTAGGTTGTAATAACTCTCCCAAAAC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa25928

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000022382	Essential Splice Site	150	746	4	17
ENSDART00000128198	Essential Splice Site	248	397	6	9

Genomic Location (Zv9):

Chromosome 2 (position 52591189)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	52389412
GRCz11	2	51982174

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

ATTGAAGGATCCAAGGATGCCTTAATATGCGGATACAGCAGCGATGCTGG[G/A]TGAGTAATCTGACTTATCACATTGTGCAAAAACAGCATGGTTATTGATTT

Long Flanking Sequence:

AATTAATAAAAAAAAATTCTCAAAAAGAAAAAATGAATAAAAAAACAAAAAAAAGTGGAAAAAAATGAATAAAATCTTGATATGTATTTGATTATAAAAACAAAAGGCAAATGCAGTGGACAAACTTTTTTTTTTTTTTTTTCAAAACCTTAACTAACATCAGGGAAACTGCATTCATTTACCTATCGTGATTGGCTGTTTTTGATAAAGGGAGAAGCTACTTTATGTCCCACCTTGTCTTCATGTTTCAGTTGAGATAACATCAAACAACGAATGAAAAATGCACTTCACAAGACCTTAAATATGGTTAATTTTATATTTTATTTTCATTTGATTTAAAGAGAAAGGTTGTTAACTAACTATAACAAAACTCTGATTCAAATTGACTTTCAAAGTGTTTTGCAGAAGTCACTGAATTTTACTTTTGCCCCCTTAGATAATTTCTACAAAATTGAAGGATCCAAGGATGCCTTAATATGCGGATACAGCAGCGATGCTGG[G/A]TGAGTAATCTGACTTATCACATTGTGCAAAAACAGCATGGTTATTGATTTCCATTTGTTGTTACGAGTTCAGTTTGCAGACATTTTGTGTGCGGCAACTCAGCATTACATACAATTGAAGTCAATTGAAGAATTATTAGCCCCCCTGTTTTTATTTTCCCCCATTTTCTGTTTAACAGAGAGAAGATTTTTTAATAGTTTTAATAACTCATTTCTAATAACTAATTTATTTTATCTTTGCCCTGATGACAGTTAATTATGTTAGACTAGATATTTATTTTACAAGATACTTCTGTAGTATTCAGCTTCAAGTGACATTTAAAGGTTCACAAAACCCTCGAGTGCTTTTTTTGAGATTTTAACAGATATGTGTGTGTTGAGCATTAGTTAAGACAATGTTAGCATCTGTCAGCTTTAATTGTGGGGAAAACTGGATAATTTAAGCTTTTGTCAGCTAATTTCAGCTTCCGGTTTAAAATGATTTTTGGGGCGGGATCAAAA

Associated Phenotype:

Not determined