ZMP

NHS (1 of 2)

Ensembl ID:

ENSDARG00000079977

Description:

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

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
sa41866	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa8742	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa41866

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
ENSDART00000112254	Essential Splice Site	184	1431	4	10

Genomic Location (Zv9):

Chromosome 11 (position 30957702)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	29835064
GRCz11	11	30082248

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AATGACTCTCAAGTGATTTCATCCTGTATCATTCCAATAAATGTTTCGGG[T/C]AAAGCAACTACTTCAGATTCAGTACAGACTAAAAATTTCAAATATGAAAG

Long Flanking Sequence:

GCTCCAGTGTATAAGAGCTTAAAGTCATATTAAAATGAATAAATGTCTTCACTGGATGATAAAGAGTCTACCATTGTTTCTGTTTGGCTTACTTTAATGTGTATTTATTGTATGTTTGAAGTTCATGGAAATTTATACAGTAAGTGTGACTCAAAATGTGTCTAAAACAATTTTGGGGCCACTGTATAAAATCTGTGATCCTGTATTCTTTCATTCAACTGTGTGTTTACCGTCTCTGTTTGTATATCAAATCATCAGTTGGATCCTAATACAGCTAACCATTCAAATATGGTTCAATATTAGGCTGGAACCAACACAGAAACGGATGGAGAACTACAAGTGATGAGCCATAGGCCTAAATGTCCTGTTCCCAATGCACCTACCACCCTGGACAAACAGACTAACTGGTCTAAAGCCCTGCCTCTTCCCACTCCAGAAGAAAGAATAAAGAATGACTCTCAAGTGATTTCATCCTGTATCATTCCAATAAATGTTTCGGG[T/C]AAAGCAACTACTTCAGATTCAGTACAGACTAAAAATTTCAAATATGAAAGACAAAATAATTTCATACTTCAGATTATACTATTAATTCCATTTCCAGCTGACGGAATCCATGGCACATTCTTAGTTAATTCTATAGGTCTATGTTATTTATTCTCATAGGTGTTGGATTTGACAGAGAAGCCAGTGCTCGCTGCTCTCTTGTTCACTCGCAATCGGTTCTACAGAGACGGCGGAAACTCAGGAGGCGAAAAACGATCACTGGGATCCCCAAACGAGTTCAACAAGACATGGGTATTTGTTTATTTTTTGCATTATTACATATGCACATCACATTTCACCAAATCTGAGTTTACTTCTAGTTTAATTTTTGATTTTCTAATTTTTCTGTAGATTCTGACGAATCCCCTGTTGCTAGAGAAAGAACAGTGATAATCCACGCCAATCCACACAAGTCCCACGAGTGGCATGAGGAGCTCTCCTTGAGTGGCAGAGTATTGCAT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa8742

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 > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000112254	Nonsense	929	1431	7	10

Genomic Location (Zv9):

Chromosome 11 (position 30960261)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	29837623
GRCz11	11	30084807

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GTAAKCACTTTCCTCACAGAAATCAAATGCACATCCTCCACCAGAATAAG[C/T]AGAAAGCTGCCATAGCAGCAGCTGCTGCAGCAGAAGCTCGCAGTGCAGCA

Long Flanking Sequence:

ACAATGACTTGAAATCAAATGATCCTTATCGGTCCCTCTCTAACTCTAGCTCTGCTACAGGTACAACTGTTATTGAATGCATCAAGTCACCAGAAAGATCAGAAACGCACACCTGTCAACCCAGGTCCAGACCTTCTTCCCCAACTCTTCCTCCACCTGAAAGTGAATTTAAGCTTGCTTCTCCCGAAAAGCTGGCAGGCTTGGCGTCCCCTTCCAGTGGATATTCCAGTCAGTCTGAAACACCTACATCTTCCTTCCCCTCTGCTTTCTTCCCAGGGCCCCTGTCTCCAACCAGTGGGAAGAGGAAGCCCAAAGTCCCTGAAAGGAAGTCCTCACTTTGTTCCTTACAGCAGCAACAGCTTTCAGTCAGAGACCCAGGCATTTCCTGTAGGAGAGAAACTGACTTCTATGCCATACCCCCAAGTCACCTTGACCTAAGTGCTCTTCACAGTAAGCACTTTCCTCACAGAAATCAAATGCACATCCTCCACCAGAATAAG[C/T]AGAAAGCTGCCATAGCAGCAGCTGCTGCAGCAGAAGCTCGCAGTGCAGCAGCTGCTGCAGCAGAAGCTCGCAGTGCAGCAGCTGCTGCAGCAGAAGCTCGCAGTGCAGCAACTGCAGCCGCTGCTGCCGAGGCCTGCACTGCAGCTACAGCTTCTACTAAAGAGAGTGCAACAAATACAGCACCCATCTCAGCCCATTTGGCTATTACTCCAACGGTTCTTAGATCAGTGCAACTGCGATCTATATGTAGACCATCTGATGGCAACCAAGGGCTTGATCAAGACAGTTCAAATCTCATAACTCGTCCTAAGTGTCCCACAATAATAACTGATGCCCCATCATCTAGCAACAGGCACAACAGGAAGCCACCAGCCTACAAACCCCCTGCTGCACAGGTTTGTGATTCACAGATTCCACTGGTGGAAAACATTGTTTTTCCACAAGAAGAAGTGAGAGTGAGACAGGAGAGGTTTGGTCCTGGTACTTACTGGGCAATGACT

Associated Phenotype:

Not determined