ZMP

PAX7 (1 of 3)

Ensembl ID:

ENSDARG00000091353

Description:

paired box 7 [Source:HGNC Symbol;Acc:8621]

Human Orthologue:

PAX7

Human Description:

paired box 7 [Source:HGNC Symbol;Acc:8621]

Mouse Orthologue:

Pax7

Mouse Description:

paired box gene 7 Gene [Source:MGI Symbol;Acc:MGI:97491]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa14696	Nonsense	Available for shipment	Available now
sa41908	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa35152	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa14696

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
ENSDART00000124068	Nonsense	122	309	2	5

Genomic Location (Zv9):

Chromosome 11 (position 42478275)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	40715351
GRCz11	11	41306150

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TACCCACCTATCAGCTTCCAGAGTCAACGTATCCCAGCACCACTCTCTCA[C/T]AAGGTAAYGTCTAATAATCAATTMACTTTTATAGTARCAAATCAACTTTT

Long Flanking Sequence:

AATAAAAGCAAATATTGCTTAAGGAGGCTTATAATATTGACTTTAAAATGGTTTAAAAAATTAAAAACTGCTTTTATTCTAGCTGAAATAAAACAAATACAACTTTCTCCAGACGAAAAAATATGATGGGAAATACTGTGTAAAATTCCTGGCTCTATTCAACATTATTTGGGAAATATTTTGAAACCAAATAATAATGATTTTGACTTTAACTGTAGACTTTCTTTGCTGTATTTTTATCATGTTACTTTTATAGCACTTTGAGATTTTACTTAAAATGTAAAGTGCTTTATAAATCAAATGTGTTTATTATTCCTGTTGTCTTATTTTTTTATTAGGTCTGGTTTAGCAACAGAAGAGCAAGGTGGCGCAAACAAGCCGGAGCGAATCAGCTGGCAGCTTTCAACCACTTGTTGCCTGGAGGGTTTCCACCCACCGGAATGCCAACTTTACCCACCTATCAGCTTCCAGAGTCAACGTATCCCAGCACCACTCTCTCA[C/T]AAGGTAATGTCTAATAATCAATTCACTTTTATAGTAACAAATCAACTTTTATACAATTTTCTGTTTTTGCAAGGACAAAATCGACTAAATAATTGTTGAAAATGTTCCCAAATTTATTTTAAAGGAATTTTATATTTCTTTTGGGGTTTATAGTCATAAAATAATCCTGAAAAACAAGAAATGTTTCTTGATCATTAAATCAGTTATGATTTCTGAAGGATCATCTGACAGTGAAGACTGGAGTAATGATGGCTTTGCAGGAATATAATATAATATAATATAATATAATATAATATAATATAATATAATATAATATAATATAATAAATATAATATAATATAACATAATATAATATAATATAATATAATATAATATAATATAATATAATATAATATAATATAATATAATAAATATAATATAATATAATATAATATAATATAATATAATATAATATAATATAACATACAGTTTAACAAAGTGACTTATTGACATTTTAGAAG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa41908

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:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000124068	Essential Splice Site	188	309	3	5

Genomic Location (Zv9):

Chromosome 11 (position 42476555)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	40717071
GRCz11	11	41307870

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CGCTTCCAGCAACCACATGAATCCTGTGAGCAACGGCCTCTCGCCACAGG[T/C]TAGTGCCGCGGAGGCCTCTTTCCAATGAAAGAATGATGAAAAGACGCTGA

Long Flanking Sequence:

TTTTCCAACTTTTCATGTATAAAAGCTGTCGGAAGAAAGATCAAAGTCCCATGATGCAATTCAAAAGCAAAATAAATGAAAACGATAAAAGCACGAAACGCAAAGTTCAAAAAACTGTTTATTTACAGTGTAGTACAAGTAGTAATCTAGTGGATTGAACATGAAACAATTAAGTTGTCCCTAAAAATCTCAAGAACTGTGTTGTTTCGGCTCATTCTAGATAAGTAGTTTGAACTAGCAGTAAATTAAGTGTATGCTCATGATATTAAATGCCGTATTTTGTGTATGTGTTTGTGTGTCAGACGGCAGCAGTACGTTGCATCGGCCGCAGCCTCTTCCTCCCTCCTCCATGCATCAGGGCGGACTCTCGGCTGACAGCGGCTCCGCCTACGGCCTCTCCTCCAACCGCCACACCTTCTCCAGCTATTCAGAAACCTTCATGAGCCCGACCGCTTCCAGCAACCACATGAATCCTGTGAGCAACGGCCTCTCGCCACAGG[T/C]TAGTGCCGCGGAGGCCTCTTTCCAATGAAAGAATGATGAAAAGACGCTGAATGAACAACAGCACGCTTCACAGATCAAGAGCACTGGAGAATTAAGCTAGCAGCAGCTTCTACACTATAAAAAATGCTGGGTTTATACAAATTCCTGCATGTTGTCCCAACACAAATCCGTTAAGTTACCTTAAATGGTATCACAAATTTAAGTGTATTAAACATAAAACAATTAAGTTTGGAAAATATTGTAGTTTATTGATGTTACTTTTGGAAAAGCCAGCTAGTAAGGCATTGCACTAGTTTAAGCGGGTAAAAAATGAAAGTATTGATTAGTTTTTCTGGCACAGAAAAAGACAGCATGAGGCAGATTAGTGAAATGTTTTTGAAATGAAAAAATCTCTGTGGACTTTGAAAAGTCTTTACAGTCGACAGCATGTGGTGATAAAATGTAAAAAATTTCTGTCAAATATTACCCCTAAGTTCTTTAGTTTGGCCTGGACCTCCACC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa35152

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:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000124068	Nonsense	193	309	4	5

Genomic Location (Zv9):

Chromosome 11 (position 42420759)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	40772867
GRCz11	11	41363666

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

ACCTTCTGAACCTCTGTGTCTGTGTGTCTGTCCGCAGGTGATGAGTATTT[T/A]GAGTAACCCCAGTGCTGTCCCGTCTCAGCCGCAGCATGATTTCTCCATCT

Long Flanking Sequence:

ACTAAGCCGACAAGAAAATGAAAGATGAATGAATATTGGCAAAATGAAGCCAAATTATATGTATTTATGAAATGATAATAATGTTTGAGGATTTTTATTAGAAAGTAAATGAGAAAATATTGAGCACAGCTCTCTTGTCTCGTATTCTTTGCAATATGTAGCTTTAAAAAGCAGACTGTGCTTTCTTGCTCATTTTACATGCACATTATTGGTTCATTATTCATAAGATAACATCTTCGAAAGAGCAATGCAATACAAGACATATTTTTTATTTCCTTAAAGAACCTTGAAATGAAACCATTTATTCTTACGTTGATGAAGTTTGAAATTACCTGAAGAACATTTTTCAACAATCAAGAATCTTTTGTGAAATAAAAAGATTTCACGGATGTCAAAATGCAACAATCAGTGCCAATATAAAATACTTTTAATTCATGCAAAGCAAAACAAACCTTCTGAACCTCTGTGTCTGTGTGTCTGTCCGCAGGTGATGAGTATTT[T/A]GAGTAACCCCAGTGCTGTCCCGTCTCAGCCGCAGCATGATTTCTCCATCTCTCCTCTGCACGGCGGTCTGGAGGCGTCCAACCCCATCTCCGCCAGCTGCAGCCAGCGCTCGGACCCCATCAAGAGTGTGGACAGTCTGGCCTCGACTCAGTCCTACTGTCCCCCGACATACAGCGCCACCAGCTACAGCGTCGACCCCGTCACTGCCGGATACCAGTACAGCCAGTATGGCCAAAGTACGTACTGTACAGTCCCCGCATCACACAGTCTTTACAGAGCTGCGTTTCTTTAGCAAAAATACACTCAATGTGCATTGTGTATTGTCATTATACCTAGAATGGAAAAGCTGAATTTGCAGCGTCATAACTCAAGTCTTCAAAAGGGGGGCTAATAATTCTGACTTCAACTGTATATAGCACATTTTTTACAACACAATGTTGCTCAATATGCTGAACACAATCATAACTAAATAAAATAAAACCTACCTCACTGTGGCGAGG

Associated Phenotype:

Not determined