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

Availability:

Order Allele From ZIRC
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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:

Order Allele From ZIRC
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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:

sa35643

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:

G > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000061932	Nonsense	625	995	9	14
ENSDART00000125865	None	None	1620	None	34
ENSDART00000127594	Nonsense	625	2011	9	35

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

• ENSDART00000146030

Genomic Location (Zv9):

Chromosome 14 (position 10872065)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	10367422
GRCz11	14	10673436

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Flanking Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa35644

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
ENSDART00000061932	None	None	995	None	14
ENSDART00000125865	Essential Splice Site	549	1620	7	34
ENSDART00000127594	None	None	2011	None	35

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

• ENSDART00000146030

Genomic Location (Zv9):

Chromosome 14 (position 10873979)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	10369336
GRCz11	14	10675350

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Flanking Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa42353

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:

G > A

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	1137	1620	23	34
ENSDART00000127594	Essential Splice Site	1483	2011	24	35

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

• ENSDART00000146030

Genomic Location (Zv9):

Chromosome 14 (position 10906415)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	10401772
GRCz11	14	10707786

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Flanking Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa42354

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 > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000061932	None	None	995	None	14
ENSDART00000125865	Nonsense	1278	1620	26	34
ENSDART00000127594	Nonsense	1612	2011	27	35

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

• ENSDART00000146030

Genomic Location (Zv9):

Chromosome 14 (position 10908255)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	10403612
GRCz11	14	10709626

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Flanking Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa35645

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
ENSDART00000061932	None	None	995	None	14
ENSDART00000125865	Essential Splice Site	1375	1620	28	34
ENSDART00000127594	Essential Splice Site	1709	2011	29	35

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

• ENSDART00000146030

Genomic Location (Zv9):

Chromosome 14 (position 10911031)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	14	10406388
GRCz11	14	10712402

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Flanking 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:

Order Allele From ZIRC
Order Allele From EZRC

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:

Order Allele From ZIRC
Order Allele From EZRC

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: