ZMP

Ensembl ID:

ZFIN ID:

Description:

si:dkey-151c10.1 [Source:RefSeq peptide;Acc:NP_001093502]

Human Orthologues:

EPPK1, PLEC

Human Descriptions:

epiplakin 1 [Source:HGNC Symbol;Acc:15577]
plectin [Source:HGNC Symbol;Acc:9069]

Mouse Orthologue:

Plec

Mouse Description:

plectin Gene [Source:MGI Symbol;Acc:MGI:1277961]

Allele Name:

sa9648

Status:

Available for shipment
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Availability:

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Mutation:

T > G

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000090669	None	None	4762	None	35
ENSDART00000090679	Nonsense	4	4577	1	32
ENSDART00000141503	None	None	188	None	6

The following transcripts of ENSDARG00000062590 do not overlap with this mutation:

• ENSDART00000019505

Genomic Location (Zv9):

Chromosome 19 (position 22963091)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	22894471
GRCz11	19	22478794

KASP Assay ID:

2261-3263.1 (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa23511

Status:

Available for shipment
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Availability:

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Mutation:

T > G

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000090669	Nonsense	470	4762	12	35
ENSDART00000090679	Nonsense	285	4577	9	32
ENSDART00000141503	None	None	188	None	6

The following transcripts of ENSDARG00000062590 do not overlap with this mutation:

• ENSDART00000019505

Genomic Location (Zv9):

Chromosome 19 (position 22935623)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	22867003
GRCz11	19	22451326

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Flanking Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa23510

Status:

Available for shipment
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Availability:

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Mutation:

T > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000090669	Essential Splice Site	533	4762	13	35
ENSDART00000090679	Essential Splice Site	348	4577	10	32
ENSDART00000141503	None	None	188	None	6

The following transcripts of ENSDARG00000062590 do not overlap with this mutation:

• ENSDART00000019505

Genomic Location (Zv9):

Chromosome 19 (position 22935227)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	22866607
GRCz11	19	22450930

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Flanking Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa11832

Status:

Available for shipment
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Availability:

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Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000090669	Nonsense	1094	4762	25	35
ENSDART00000090679	Nonsense	909	4577	22	32
ENSDART00000141503	None	None	188	None	6

The following transcripts of ENSDARG00000062590 do not overlap with this mutation:

• ENSDART00000019505

Genomic Location (Zv9):

Chromosome 19 (position 22919064)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	22850444
GRCz11	19	22434767

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa14073

Status:

Available for shipment
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Availability:

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Mutation:

A > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000090669	Nonsense	1631	4762	34	35
ENSDART00000090679	Nonsense	1446	4577	31	32
ENSDART00000141503	None	None	188	None	6

The following transcripts of ENSDARG00000062590 do not overlap with this mutation:

• ENSDART00000019505

Genomic Location (Zv9):

Chromosome 19 (position 22905388)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	22836768
GRCz11	19	22421091

KASP Assay ID:

2261-3256.1 (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa10308

Status:

Available for shipment
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Availability:

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Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000090669	Nonsense	2421	4762	34	35
ENSDART00000090679	Nonsense	2236	4577	31	32
ENSDART00000141503	None	None	188	None	6

The following transcripts of ENSDARG00000062590 do not overlap with this mutation:

• ENSDART00000019505

Genomic Location (Zv9):

Chromosome 19 (position 22903018)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	22834398
GRCz11	19	22418721

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa10022

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:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000090669	Nonsense	2916	4762	35	35
ENSDART00000090679	Nonsense	2731	4577	32	32
ENSDART00000141503	None	None	188	None	6

The following transcripts of ENSDARG00000062590 do not overlap with this mutation:

• ENSDART00000019505

Genomic Location (Zv9):

Chromosome 19 (position 22900217)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	19	22831597
GRCz11	19	22415920

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype: