ZMP

KCNQ2 (2 of 3)

Ensembl ID:

ENSDARG00000091130

Description:

potassium voltage-gated channel, KQT-like subfamily, member 2 [Source:HGNC Symbol;Acc:6296]

Human Orthologue:

KCNQ2

Human Description:

potassium voltage-gated channel, KQT-like subfamily, member 2 [Source:HGNC Symbol;Acc:6296]

Mouse Orthologue:

Kcnq2

Mouse Description:

potassium voltage-gated channel, subfamily Q, member 2 Gene [Source:MGI Symbol;Acc:MGI:1309503]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa20835	Essential Splice Site	Available for shipment	Available now
sa18417	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa20835

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

Mutation:

A > T

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000130440	Essential Splice Site	93	372	4	5

Genomic Location (Zv9):

Chromosome 6 (position 58394842)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	6	58497970
GRCz11	6	58492201

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GATGCATCTGATGTGTTTGCTTTACATGTTTGTGTCTTTAATTCACTGTT[A/T]GAGTGGATCAGATTGTCGGTCGAGGGGCTCCAATTACAGACAAGGACCGT

Long Flanking Sequence:

TGGCAGGTATGACAACCATGCCACATTCAAAGTCACTTAAATTCCCCCCCACCCCCCCCCCCCCCCCCCCCATTCTGAAGCTTGCTTTGAACTGCAGCAGATCGTTTTGCCTAAATACATTGAGTTGCTGCCATGTGATTGGCTGATTTGAAGTTTGCGTTAATAAGCAGTTGTGCAGGTGTACCTAATATAGTGGCCGGTTAGTGTATTTAAATACATTTAAATACACTTTAAATACACACATGTATGTTATGTCAAAACAAACTGTTGTTTTAGATGTGAATAATCATGATTAATCTTTCCCAGCACTAAAATATATTCATTATTTGCAACTGTAAAATACAAAACAAAAAAAGGATTGTACCTAGGATAAGAAATGGCGTGTTTGTCCATGTTTAATGCACAATGATAGCCATATTTTCTGCTGAAACAGACTTGAGCAAAAACACAGATGCATCTGATGTGTTTGCTTTACATGTTTGTGTCTTTAATTCACTGTT[A/T]GAGTGGATCAGATTGTCGGTCGAGGGGCTCCAATTACAGACAAGGACCGTCCTAAAGGAACCACGGATGGAGAACTGCCAGAGGATCCCAGCATGATGGGACGACTCGGGAAAGTGGAGAAACAGGTGAGAGACTTACAAATGGCAAAGAGCTGTGGAGAAAAGCTCATACGCATAACACTTAAACCCAAGATAATAATAATTAAAGATTTAATTCAAAGTTTAAGCAGATTACAAGATGTTTATAGTAATTTTGTGACAAAAGCCAACTTTCATTACTTATTCAAACACACAATCACTCTTTCTTGTCAGCATCTAAGTGTAGGGTTTAAAAGCCTAGCCTAGAGCACCGTCTGCTGTTAAAACTAGCCTAGAGCGCCGTCTGCTGTTAAAATTAGCCTAGAGCGCTGTCTGCTGTTAAAACTATGCTTAGAGCGCCGTCTGCTGCTAATAACTAGCCTAGAGTGCCATCTGCTGTTACAAACTAGCTTAGAGCGCCAT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa18417

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
Order Allele From EZRC

Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000130440	Essential Splice Site	134	372	4	5

Genomic Location (Zv9):

Chromosome 6 (position 58394968)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	6	58498096
GRCz11	6	58492327

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TGCCAGAGGATCCCAGCATGATGGGACGACTCGGGAAAGTGGAGAAACAG[G/A]TGAGAGACWTACAAATGGCAAAGAGCTGTGGAGAAAAGCTCATACGCATA

Long Flanking Sequence:

GCTGCCATGTGATTGGCTGATTTGAAGTTTGCGTTAATAAGCAGTTGTGCAGGTGTACCTAATATAGTGGCCGGTTAGTGTATTTAAATACATTTAAATACACTTTAAATACACACATGTATGTTATGTCAAAACAAACTGTTGTTTTAGATGTGAATAATCATGATTAATCTTTCCCAGCACTAAAATATATTCATTATTTGCAACTGTAAAATACAAAACAAAAAAAGGATTGTACCTAGGATAAGAAATGGCGTGTTTGTCCATGTTTAATGCACAATGATAGCCATATTTTCTGCTGAAACAGACTTGAGCAAAAACACAGATGCATCTGATGTGTTTGCTTTACATGTTTGTGTCTTTAATTCACTGTTAGAGTGGATCAGATTGTCGGTCGAGGGGCTCCAATTACAGACAAGGACCGTCCTAAAGGAACCACGGATGGAGAACTGCCAGAGGATCCCAGCATGATGGGACGACTCGGGAAAGTGGAGAAACAG[G/A]TGAGAGACTTACAAATGGCAAAGAGCTGTGGAGAAAAGCTCATACGCATAACACTTAAACCCAAGATAATAATAATTAAAGATTTAATTCAAAGTTTAAGCAGATTACAAGATGTTTATAGTAATTTTGTGACAAAAGCCAACTTTCATTACTTATTCAAACACACAATCACTCTTTCTTGTCAGCATCTAAGTGTAGGGTTTAAAAGCCTAGCCTAGAGCACCGTCTGCTGTTAAAACTAGCCTAGAGCGCCGTCTGCTGTTAAAATTAGCCTAGAGCGCTGTCTGCTGTTAAAACTATGCTTAGAGCGCCGTCTGCTGCTAATAACTAGCCTAGAGTGCCATCTGCTGTTACAAACTAGCTTAGAGCGCCATATGCTGCAAGTAACTAGCCTAGAGCGCCATCCGCTGTTACAAACTAGCTTAGAGCGCCATCTGCTGTTACAAACTAGCTTAGAGCGCCATATGCTGCTAGTAACTAGCCTAGAGCGCCATCTGCTG

Associated Phenotype:

Not determined