ZMP

setd2

Ensembl ID:

ENSDARG00000062244

ZFIN ID:

ZDB-GENE-030131-2140

Description:

Huntingtin interacting protein B [Source:UniProtKB/TrEMBL;Acc:Q071D9]

Human Orthologue:

SETD2

Human Description:

SET domain containing 2 [Source:HGNC Symbol;Acc:18420]

Mouse Orthologue:

Setd2

Mouse Description:

SET domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:1918177]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa22792	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa22792

Status:

Available for shipment
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Availability:

Order Allele From ZIRC

Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000089776	None	None	508	None	7
ENSDART00000111446	Essential Splice Site	1405	2737	5	21
ENSDART00000131779	Essential Splice Site	157	285	3	7
ENSDART00000137672	Essential Splice Site	1405	2737	6	22

Genomic Location (Zv9):

Chromosome 16 (position 18323478)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	16	16364715
GRCz11	16	16272692

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TTGACTGAGAGCAAAGGATGGGGTTTACGAGCAGCTAAAGACCTCCAGCC[G/A]TAAGTACCGTATGGTTCAACTAATAGTTTTTTTTGGGGTACATTTAAATA

Long Flanking Sequence:

TGCTGCCAGACCAAGTCAGCAGCAGGCACAATAGTATTATTGCAGAATGAGAGTATAGTTTCTAGTCATATCGGCCTAAAAAGTTATTTTAATTTTTTAATTTTTTTGAGTGAGATGCTAATGGTCTATTCCGATTCAGTGGTCTGTGCTTAGCTAAGCTAAAAGTGCTAGCGCTAGTCTCAGAGATCAGCTGAATGGATTGAAAAAATTTTAAAACTCAACTGTTCAACTCTAGGTGACTTGCAAAATGAGCATGTTTCCCAAAAAAGTTGTTTTTTAATATTTACAAGATTTCAAGATTCAAAATATTTCAAAGCTGTTTATTTAGAATGTGGAAGGTAAGATTTCCCCCTTTTTCTTGTACTTTCAAGCTCTTCCAGGTGTTTAAATGGAGCATACTGCTCCAACCGGCGCTTCCAGATGAAACAGCATGCAGACTATGAGGTTATTTTGACTGAGAGCAAAGGATGGGGTTTACGAGCAGCTAAAGACCTCCAGCC[G/A]TAAGTACCGTATGGTTCAACTAATAGTTTTTTTTGGGGTACATTTAAATATGTCTTTTATGCCTGTTACTTCTAAAATGTAATGATTGATGTATTTTTTCCAGGAACACCTTCGTTTTAGAGTACTGTGGAGAGGTTTTGGATCACCGGGAATTTAAGGCACGCGTGAAAGAGTATGCTCGAAACAAGAACATTCACTATTATTTCATGGCTTTGAAAAATAATGAGGTAAGTCATCAGCGCACTAAAATCTACAAATTAGAACTGTTGGTAATCTACATAAGTGTGATATTGTTTCATATCATTCGATATTGGTAATTATTGAATATTTTTTAGCAGTTCAAATTTAATATTTAATTTTTAATTTCACCACTTTATTGTAATTTACCAACATTACAAAGACAAATAGTTATAAGAGTCAAAAACATGTAAACAAAATATCTAATCTCCTTATAATAAAAAAACAAGTGTTTTAGAGTCTCTTAAACTTGAAAAATACAA

Associated Phenotype:

Not determined