ZMP

nsd1a

Ensembl ID:

ENSDARG00000060016

ZFIN ID:

ZDB-GENE-080519-3

Description:

Nuclear receptor binding SET domain protein 1a [Source:UniProtKB/TrEMBL;Acc:A5XBQ0]

Human Orthologues:

EZH1, EZH2, SETD2, WHSC1, WHSC1L1

Human Descriptions:

SET domain containing 2 [Source:HGNC Symbol;Acc:18420]
Wolf-Hirschhorn syndrome candidate 1 [Source:HGNC Symbol;Acc:12766]
Wolf-Hirschhorn syndrome candidate 1-like 1 [Source:HGNC Symbol;Acc:12767]
enhancer of zeste homolog 1 (Drosophila) [Source:HGNC Symbol;Acc:3526]
enhancer of zeste homolog 2 (Drosophila) [Source:HGNC Symbol;Acc:3527]

Mouse Orthologues:

Ezh1, Ezh2, Setd2, Whsc1, Whsc1l1

Mouse Descriptions:

SET domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:1918177]
Wolf-Hirschhorn syndrome candidate 1 (human) Gene [Source:MGI Symbol;Acc:MGI:1276574]
Wolf-Hirschhorn syndrome candidate 1-like 1 (human) Gene [Source:MGI Symbol;Acc:MGI:2142581]
enhancer of zeste homolog 1 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:1097695]
enhancer of zeste homolog 2 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:107940]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa13619	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa13619

Status:

Available for shipment
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Availability:

Order Allele From ZIRC
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Mutation:

T > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000084114	Essential Splice Site	967	2055	4	23

Genomic Location (Zv9):

Chromosome 14 (position 51433286)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	50186054
GRCz11	14	49173811

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CTTCAGGAATCGGCTCAYTCTGACGTCCCGAATAAAAAAGATGCTTCAGG[T/A]AAGTCCTGAAAAATTGAATAATCAATGAAGTCTTTGCAMTCTGAAKATAT

Long Flanking Sequence:

ATCCCTGTTGGAGAAGAGCCACCAAATGAGGTGCTTTGTGAAAAGGAGTTTGCAGAGCAAAGCAGCTTGCCTGGAAAAACATCAACACCGAACAACTCAAAGCAAAGCAAAGCTAAGCTGAAATCAACAGTGAAAAAGGAAAGTCAAAAGCCTGACGTTGTTATAGATTCAGTCTCTCCGTTAAAGAAACCAATCTCACCTGTAGGTTTGGATGTACTTGACAAGAGTTTGCCTTTGTTAGGAGATCTTCCAAAGTCTAGTGATGTTTCTGCTGCGGTTACTGATGTTTGCGCTAAGGGAACCATCTCCAAGGTTGCTCCTAAAAAGCGCTGGAAAACATTCGAGTCGGAACTTGGGAAAAGCATCAAGCCAAAGAGCGATCAGGTTGATTCGACTCTAGATGAGGTGAAGAGTGTGTCCACAGAGCCCAATGGAGTCTTCAAAGACGGTCTTCAGGAATCGGCTCACTCTGACGTCCCGAATAAAAAAGATGCTTCAGG[T/A]AAGTCCTGAAAAATTGAATAATCAATGAAGTCTTTGCAATCTGAAGATATTTTCTTTCTCTTTTTTTTTTTTTTTGAATCCCTATCTGAATGTTGGGTCAACCACAACATTGGGTCAGCTTTATACATTAAATTTAAATTACATAATTTTAACCCACCTGACAAAACTCTTGTCATTGATCTCAGTTGTAAATGCAAAAAATAATAACTCGACTTCTAGTTGATCACTTGGAAAAGTGTCAGAAGGTGGATTTTTCAGATGACTCATCTGTTGATCTGCATCACAATCATCACAAATACTGCAGAAGACCTACTGGAACCCACATGGACACAAGATTCTCACAGAAATCTTGGTTTGTGGTTACATTCAGTATGGGGGTGTGCGAGAGATCTGCAGAGTGCTGCCCATTACATTACAAACCACAGGAGACGGCAAATTCTCCAGCAGGATAGCGCTGCTCCTCATACTTCAGCCTCCACATCAAAGCTCCTGAAAGCAAA

Associated Phenotype:

Not determined