ZMP

Ensembl ID:

ZFIN ID:

Description:

junctophilin 1b [Source:RefSeq peptide;Acc:NP_001037813]

Human Orthologue:

JPH1

Human Description:

junctophilin 1 [Source:HGNC Symbol;Acc:14201]

Mouse Orthologue:

Jph1

Mouse Description:

junctophilin 1 Gene [Source:MGI Symbol;Acc:MGI:1891495]

Allele Name:

sa13453

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:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000099078	Nonsense	106	673	1	6

The following transcripts of ENSDARG00000038826 do not overlap with this mutation:

• ENSDART00000144399

Genomic Location (Zv9):

Chromosome 2 (position 30038553)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	30340188
GRCz11	2	30323721

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa2064

Status:

F2 line generated
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
ENSDART00000099078	Essential Splice Site	127	673	1	6

The following transcripts of ENSDARG00000038826 do not overlap with this mutation:

• ENSDART00000144399

Genomic Location (Zv9):

Chromosome 2 (position 30038490)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	2	30340125
GRCz11	2	30323658

KASP Assay ID:

554-3325.1 (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype: