ZMP

Ensembl ID:

ZFIN ID:

Description:

Atrxl protein [Source:UniProtKB/TrEMBL;Acc:Q7ZUS5]

Human Orthologue:

ATRX

Human Description:

alpha thalassemia/mental retardation syndrome X-linked [Source:HGNC Symbol;Acc:886]

Mouse Orthologue:

Atrx

Mouse Description:

alpha thalassemia/mental retardation syndrome X-linked homolog (human) Gene [Source:MGI Symbol;Acc:M

Allele Name:

sa13757

Status:

Available for shipment
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Availability:

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Mutation:

C > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000061932	Nonsense	361	995	9	14
ENSDART00000125865	Nonsense	251	1620	3	34
ENSDART00000127594	Nonsense	361	2011	9	35

The following transcripts of ENSDARG00000042236 do not overlap with this mutation:

• ENSDART00000146030

Genomic Location (Zv9):

Chromosome 14 (position 10871274)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	10366631
GRCz11	14	10672645

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa10556

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

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Mutation:

C > T

Consequence:

Splice Site, Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000061932	Nonsense	417	995	9	14
ENSDART00000125865	Splice Site, Nonsense	307	1620	3	34
ENSDART00000127594	Nonsense	417	2011	9	35

The following transcripts of ENSDARG00000042236 do not overlap with this mutation:

• ENSDART00000146030

Genomic Location (Zv9):

Chromosome 14 (position 10871441)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	10366798
GRCz11	14	10672812

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa15167

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

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Mutation:

T > G

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000061932	None	None	995	None	14
ENSDART00000125865	Nonsense	1500	1620	31	34
ENSDART00000127594	Nonsense	1834	2011	32	35

The following transcripts of ENSDARG00000042236 do not overlap with this mutation:

• ENSDART00000146030

Genomic Location (Zv9):

Chromosome 14 (position 10929421)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	10424778
GRCz11	14	10730792

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa17647

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

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Mutation:

T > G

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000061932	None	None	995	None	14
ENSDART00000125865	Essential Splice Site	1603	1620	33	34
ENSDART00000127594	Essential Splice Site	1937	2011	34	35

The following transcripts of ENSDARG00000042236 do not overlap with this mutation:

• ENSDART00000146030

Genomic Location (Zv9):

Chromosome 14 (position 10933146)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	10428503
GRCz11	14	10734517

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype: