ZMP

nhsa

Ensembl ID:

ENSDARG00000070227

ZFIN ID:

ZDB-GENE-090617-1

Human Orthologue:

NHS

Human Description:

Nance-Horan syndrome (congenital cataracts and dental anomalies) [Source:HGNC Symbol;Acc:7820]

Mouse Orthologue:

Nhs

Mouse Description:

Nance-Horan syndrome (human) Gene [Source:MGI Symbol;Acc:MGI:2684894]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa11777	Nonsense	Available for shipment	Available now
sa17321	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa11777

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:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000109567	Nonsense	609	1525	8	10

Genomic Location (Zv9):

Chromosome 23 (position 41500057)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	23	41332772
GRCz11	23	41224736

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GCAGCTACCAATACTAATGATGATTCCACTGGCTTCATTATTGATCCGTA[T/A]CCTGGGGAYCGATTGCAAGGGCTCCGCAGCCATAGAACRGGTTCATTCAC

Long Flanking Sequence:

GAAGAGGAGGATGAGGAAGAATTGTCTCCGTTTGAGGCAGAGGACTTCCTACCAGTTCCAGGGGAGCATATATTAAAAGATGACGAGGAAAGCACTGATGATCAGACGATCCCAGAAGGACAGCATAATAGTTTGAAATTCAAGCAGCATGCTGGAAGTACAGACCATGAATGGTTGGAGAGGGGTCGATCCCGTCTGCCTCGGAAAGCTGACATGGGTAGTTGTGAGATTTCCTCTAGTTCTGACACATTCAGTAGCCCTATTCACTCCATTTCCAATGCTGGTGTGCTGACTAGCCAGATGGACCACAAGGAGGATCACCAGTCCTCAAGCGGCAACTGGAGTGGTAGTAGTTCAACATGTCCCTCCCAGACGTCGGAAACCATTCCACCTGCAGCCTCACCCCCACTCACCGGATCATCCCACTGTGATTCAGAGCTATCGCTGAATGCAGCTACCAATACTAATGATGATTCCACTGGCTTCATTATTGATCCGTA[T/A]CCTGGGGACCGATTGCAAGGGCTCCGCAGCCATAGAACGGGTTCATTCACTTCCACTGCAACTGACATGCTTGACGATGCTGGAGTCAGCACTGCTAGTGAGGGTGAATGGAGTTATCCCCAATACAGGCATAACATACCTTGCCACCCTGACTTCAGTCCTGAGCACTCAAGGGCAGAGAACATACTCGAATGTCCCAGTTTTACTAGCATAGCCACTTTTGAAAGTTTAACAGATAGGCCACCTTCTGAAAAGGCAGACACCACCTCACACTATTCTGTAGATGCCGAGGGCTACTATACCTCCATGCACTTTGACTGTGGTCTTAAAGGTAGCAAAAGCTTCACATATAACTATGCATCTGTAGACCAGCAGCAGGCAGACTATGGACATCAAACAAACACACTTGGGAGACATAGTCTCTCTTTAAGGAAACCAAAGGTGAAGCCATCCCCACCAAAACGCAGCTCATCATTGAGGAAATTAAGCAGCCATGTTGG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa17321

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:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000109567	Essential Splice Site	1320	1525	9	10

Genomic Location (Zv9):

Chromosome 23 (position 41502480)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	23	41335195
GRCz11	23	41227159

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CTCCAAGTAAAAGTCGCACGACTGAAGATCTCTTTGCSATGATTCACAGG[T/C]GTGTTTYAATATAGTTTTGTACATATTTGATGTCCTTAAAAGYAGGACTG

Long Flanking Sequence:

AACATCAGGTGTTCCAACCAGAAGTGCCTCACAAGAATATGTAGAGGAAGGGTCTACACCAGACACAGAGGACTATTTTAGCAGAGGTATGTTTGTGTAAATCAAGGGGTGCTCAACCCTGTTCCTGAACATCTGCCTTCCTGTAGATTTCAGTTGCAACCAGTGTCAAACACACCTGCCTGTAATTATCAACAGCTGTTTAGGTCCTAATTAATTGGTTCATGTTTGTTTGGTCAGGTTTGAACTTTGTAAGAAGGTAGATCTCAAGGAACAGGGTTGAGCACCCCTAGTGTAATCATTCCATTGATGTATATGTATTGAGTGTTATTGTATCTTATTTCGGAGAATTTAATCAAGAATGGGTTTTTATTTCAGAGTCCACACCAAGTGATCCATCTGTGTCCCCTCTGATAGACGAATCCAAAACTGAAGATGATAGCGTTTTCCTATCTCCAAGTAAAAGTCGCACGACTGAAGATCTCTTTGCCATGATTCACAGG[T/C]GTGTTTCAATATAGTTTTGTACATATTTGATGTCCTTAAAAGTAGGACTGGGTCAATAAATTGAATCAAGAAATGATTCTTTACCAGTTCTGAATTTTTCCTAATGCATTGCGATTCTCTCTTGAATCGGTTCCGAGCTTAGTTTTTACCACCAGATAGCACTGTAAGCTTTTCAAACTGCTACCAATCCTTGCACAAACGACTTGAAAAGTAAAACAATCTTTAATAAAGTTAATGATTTAACAAAAATATTTAAGCGAATAACAAGACAAGTTCATAGTAAGCTGTGTTTACATTATTCCTGTGTAATAAAAGCCATGGTGCAAGTACATATGTCCATTAACAGTACATGACCGAAAGCAAGTACATGGCTGAAAGTGCTCTTTAAAAAGTAGCCCCAAATTCCTCTGCTGTTATAAACTAGCCTAGAGTGCCATCTGCTTTTCAAGACTAGCCAAGACCATGGTCTGCTGTTGAAAAACTAGCCAACACCATGGTCT

Associated Phenotype:

Not determined