ZMP

LOC557135

Ensembl ID:

ENSDARG00000076079

Human Orthologue:

USH1G

Human Description:

Usher syndrome 1G (autosomal recessive) [Source:HGNC Symbol;Acc:16356]

Mouse Orthologue:

Ush1g

Mouse Description:

Usher syndrome 1G homolog (human) Gene [Source:MGI Symbol;Acc:MGI:2450757]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa16399	Nonsense	Available for shipment	Available now
sa10814	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa16399

Status:

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

Availability:

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Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000110162	Nonsense	124	488	2	4

Genomic Location (Zv9):

Chromosome 12 (position 47662323)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	46291563
GRCz11	12	46592555

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CCAGGAGCCACATGGACTGTGTTCGRTATCTGGACTCRATCGCCGCCAAA[C/T]AAATCACCATTAATCCTAAGTTGGTGAGCAAACTGAAGGAGCGAGGCTTT

Long Flanking Sequence:

ATTTTCACATCAAAAATTTACAGAATCAAGTCAATATACAAGTAAACTTTATTTTTAACCATTTTTAACCACACTTTTTTTTTTTATCTAAATATTTGACCAATTGCAATATTACCAAAAATAGTCCCATGCATTATCACATTGGCTCTATGTTCCTGGGTCAAATATACTCATTTTGGGAGAAGTCAATAACAAGCCCATATCTATCATCCATCAATTTAGCCCTTGTAAACTGCATTAGAATGTAATATAAATCTGTAAATAACCCCATGCACTTTTGTTATTATCTCCACAGAGGTGATCCAGATAAATGTGATATTTGGGGAAACACTCCTCTTCATCTGGCAGCAGCAAACGGTCACCTGAGCTGTCTGTCCTTTCTGGTGTCATTCGGCGCAAATGTTTGGTGTCTGGACAATGATTACCACACACCGCTGGACATGGCGGCCTCCAGGAGCCACATGGACTGTGTTCGATATCTGGACTCGATCGCCGCCAAA[C/T]AAATCACCATTAATCCTAAGTTGGTGAGCAAACTGAAGGAGCGAGGCTTTCGCAATGCAGAGAAGCGCATCAGGAACTGTGAGAAACTACAGCGCAAGCATCACCAGCGCATGGAGAGACATTTCATGAGGGAAAGTGCTGCATTGGATACGTCGGATACCATGAGTTACAGCAGCTTCAGCAGCACGTTGAGTCGACGGATGCCTCAGTTTAACACGCTTGACTCTATGACATACTCACAGGTACCGTATCTGAACACATGGGTACTCAAGACTGCTAATAAACCTTTATTTCGTTGATTTAGTAGTTGGGCCAATGTTAAAATGTGCAAAAATCACTTTTTATAAGCAGTTTGAGCACAGTTGTGTGGCAGCAGTGTGTGAATATAACCAGCTTCTGCAGAAACACTTTGATTTGATTTCTCCCTTTATACCTGTCATCAAGGGGAGAGGGGGAAAGCCCCGCCCACTAGTGACCGTCTCTCCCTCAGCATATGACGT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa10814

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:

C > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000110162	Nonsense	180	488	2	4
ENSDART00000110162	Nonsense	180	488	2	4

Genomic Location (Zv9):

Chromosome 12 (position 47662493)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	46291733
GRCz11	12	46592725

KASP Assay ID:

2260-5768.1 (used for ordering genotyping assays)

KASP Sequence:

CATTTCATGAGGGAAAGTGCTGCATTGGATACGTCGGATACYATGAGTTA[C/A]AGCAGCTTCAGCAGYACGTTGAGTCRRCGGATGCCTCAGTTTAACACGCT

Long Flanking Sequence:

TCATTTTGGGAGAAGTCAATAACAAGCCCATATCTATCATCCATCAATTTAGCCCTTGTAAACTGCATTAGAATGTAATATAAATCTGTAAATAACCCCATGCACTTTTGTTATTATCTCCACAGAGGTGATCCAGATAAATGTGATATTTGGGGAAACACTCCTCTTCATCTGGCAGCAGCAAACGGTCACCTGAGCTGTCTGTCCTTTCTGGTGTCATTCGGCGCAAATGTTTGGTGTCTGGACAATGATTACCACACACCGCTGGACATGGCGGCCTCCAGGAGCCACATGGACTGTGTTCGATATCTGGACTCGATCGCCGCCAAACAAATCACCATTAATCCTAAGTTGGTGAGCAAACTGAAGGAGCGAGGCTTTCGCAATGCAGAGAAGCGCATCAGGAACTGTGAGAAACTACAGCGCAAGCATCACCAGCGCATGGAGAGACATTTCATGAGGGAAAGTGCTGCATTGGATACGTCGGATACCATGAGTTA[C/A]AGCAGCTTCAGCAGCACGTTGAGTCGACGGATGCCTCAGTTTAACACGCTTGACTCTATGACATACTCACAGGTACCGTATCTGAACACATGGGTACTCAAGACTGCTAATAAACCTTTATTTCGTTGATTTAGTAGTTGGGCCAATGTTAAAATGTGCAAAAATCACTTTTTATAAGCAGTTTGAGCACAGTTGTGTGGCAGCAGTGTGTGAATATAACCAGCTTCTGCAGAAACACTTTGATTTGATTTCTCCCTTTATACCTGTCATCAAGGGGAGAGGGGGAAAGCCCCGCCCACTAGTGACCGTCTCTCCCTCAGCATATGACGTCAGTCTTGTTTTTGAATCTGCCACTATGCTGACACACAGGCATTTGTAGCTCCACCCTGTTCTAAAAAAAGAGCACAATTTCATTTGAATTTAAAGCAACAGTGACCAAAACGCCACAGATCACCTTTAAGACTGTTATGCTGTGTTCACACCAGACACAGAACGCGCGG

Associated Phenotype:

Not determined