ZMP

LOC100330448

Ensembl ID:

ENSDARG00000079969

Human Orthologue:

C10orf2

Human Description:

chromosome 10 open reading frame 2 [Source:HGNC Symbol;Acc:1160]

Mouse Orthologue:

Peo1

Mouse Description:

progressive external ophthalmoplegia 1 (human) Gene [Source:MGI Symbol;Acc:MGI:2137410]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa22147	Nonsense	Available for shipment	Available now
sa42074	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa22147

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:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000109494	Nonsense	116	660	1	6

Genomic Location (Zv9):

Chromosome 12 (position 35308840)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	33712585
GRCz11	12	33813568

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GGGAAAACTTCTCGCTCTTCATTGATAAAACCACCGGACAGTTTTTATGC[A/T]AGGACACTTTAGTAGAAGGAAACTGGGAGGACTTCCAGGACTGCCTTGAG

Long Flanking Sequence:

CATGTCAGCCGTCCCTAATTGTGCATATTTTGTGTAATGACTGCAGGTGTGATGTCCTGAGTGATCGTCAAATGTGGAGGAGCAGGTTTCTCAGATCTGCAGGCTGTCTCTTACAGGCAACGGTCTGTAGTCCTCATAAACTCTCTCATCTTCCTCAATGGAGATTTTTATCTTCTCACCAGCCCCTTCTCAATCCAGTCCTGCAGCGCTATTTAAGACCACCATCGTCTACATGGTATTGTCCTAAAAGCCATATAAACCCCACAGTTGCCTTATATTTCTGCAGAACATTAAGAAAAGATGCAAAGTCTGTCATCGATTTCGACCAGCCTCTCACGGTCACTGACATCAAACAATACCTTCGTTTTAAAGAAATCCCTTTCCACGATGGCCACAGCTGCTTACACGCTCCCAGTATTTTTACGGCACCCCTGCCTGAAGGATCGGGACGGGAAAACTTCTCGCTCTTCATTGATAAAACCACCGGACAGTTTTTATGC[A/T]AGGACACTTTAGTAGAAGGAAACTGGGAGGACTTCCAGGACTGCCTTGAGGTGATGCTGAACGAAGGCCAAACCTCCATCAGCCCCAATGTTCTCCTAGGGTTTCCGGAGAGCCTGGAGGAGCAGGAGGAAAGAGGGATGGAGGTGAAGGAGGTGCAAAGAATTTGGAGCAGCTCCGTGCCTTTTTCCGACCTCATGGAAGACGAGGTGCAGCTTATTAAAGCCATGTTTCAGATCGCCAAACTCACCAATGCTACTCTAAAGAAATTCGGAGTTCGGTTCTTCAAGCCTACCAAGAGTTTGGTGTTTCCTTGGTTTGGCGGACGGGATTCGGGACTTCGTGGTGTTAAATTGCTTTCGGCCTCGACGAGGGATGACGGACGTGTGGTTTATACTGAAGCCACAGTGCCAAAAGTCTCTAGTTACCACAACCTCTTTGGCCTGCCTTTGGTAGGACGCAAGGACGCCGAGGTTGTGTTGACAGGACGCCGAGGTTGTGTT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa42074

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:

C > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000109494	Nonsense	522	660	4	6

Genomic Location (Zv9):

Chromosome 12 (position 35305530)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	33709297
GRCz11	12	33810280

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TCTTTTTTCCTTTACAGGACTGTTTTGGATACCATGCAGCATGCTGTTTA[C/A]GTTTATGACATCAGTCACGTGATCATTGACAACCTGCAGTTTATGATGGG

Long Flanking Sequence:

TCTCTGACTGATATGCATCAATAAAGCAGTTAAAGTTTAGATAAATAATTATTTAAATAATTATAATAATATTTGTGTTTATTTTTCATATGTGCAGGTCCCACAGGCAGTGGAAAGACCACCTTCATTAGTGAGTGTGCTCTGGATTTGTGCATGCAGGGGGTCAACACATTATGGGGCAGCTTTGAAATCAACAATGTGCGCCTGGCTAAAATTATGCTGACCCAGTTTTCCAAGCAAAGGCTGGAGGAGAACCTGGACCAATACGACATGTGGGCTGACAAGTTTGAGGACCTGCCTCTCTACTTCATGACCTTCCATGGACAGCAGAACATCAAGTAAATCCTTGACATTTGTCTAATAGACTTGATTAAGTTCTGTATTGTATTGCAAGCCCTATCGATTTGTGAGATGATGCTTCTTTTCTTAATCTTTTAATATGACTTGCACTCTTTTTTCCTTTACAGGACTGTTTTGGATACCATGCAGCATGCTGTTTA[C/A]GTTTATGACATCAGTCACGTGATCATTGACAACCTGCAGTTTATGATGGGTCAAGAAAATCTGTCTGTGGACAAGTAAGGCTACAGTTTTATTATGATATTCTATATAATGGTTTGATTGATAGCTTTGATTGATATTGGCGTATTTTAAATCGAGTTTTCTGTAGTCATACTCTGTCATTGGGTACTTTTTATCAGCATAAAAAGTTAGATTTCTCTAAAAAATTATTTCTTAAATTCATCTTTGGTTATTTGTGAAATTCATTGTTATTTATAGTAAATATAGTGAACCAAAAATGAACAAAGAAAAGGAAAATAAAAACATTTTGTTGAAGCAGCCTGGTTTTAGAAAAATACAGGTAGTTTTTTTGTTTTATGGGCTTCGACTCTGGAACACAAAAGTCTTTTATTTTGGTAGTAGCCAGAATACAATTTATGGATCAAAATAATTGATTTTATGGCAAAAATCATTAGAATGTTATGTAAAGATCATTTGATGAA

Associated Phenotype:

Not determined