ZMP

Ensembl ID:

ZFIN ID:

Description:

Nuclear receptor binding SET domain protein 1b [Source:UniProtKB/TrEMBL;Acc:A5XBP9]

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]

Allele Name:

sa24006

Status:

Available for shipment
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Availability:

Order Allele From ZIRC

Mutation:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000131188	Nonsense	1168	1873	12	22
ENSDART00000137883	None	None	117	None	3
ENSDART00000143621	Nonsense	1012	1717	10	20

The following transcripts of ENSDARG00000060705 do not overlap with this mutation:

• ENSDART00000085822

Genomic Location (Zv9):

Chromosome 21 (position 36700687)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	21	37690036
GRCz11	21	37375223

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Flanking Sequence:

Long Flanking Sequence:

Associated Phenotype: