ZMP

Ensembl ID:

Description:

ryanodine receptor 1b (skeletal) [Source:RefSeq peptide;Acc:NP_001096041]

Human Orthologue:

RYR1

Human Description:

ryanodine receptor 1 (skeletal) [Source:HGNC Symbol;Acc:10483]

Mouse Orthologue:

Ryr1

Mouse Description:

ryanodine receptor 1, skeletal muscle Gene [Source:MGI Symbol;Acc:MGI:99659]

Allele Name:

sa13194

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:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000036015	Essential Splice Site	880	5060	21	104
ENSDART00000138178	None	None	164	None	6
ENSDART00000142757	None	None	2712	None	61
ENSDART00000146076	None	None	215	None	5

The following transcripts of ENSDARG00000023797 do not overlap with this mutation:

• ENSDART00000134252
• ENSDART00000137202
• ENSDART00000147641

Genomic Location (Zv9):

Chromosome 18 (position 33973879)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	35653647
GRCz11	18	35632495

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa23341

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

Mutation:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000036015	Nonsense	1066	5060	25	104
ENSDART00000138178	None	None	164	None	6
ENSDART00000142757	None	None	2712	None	61
ENSDART00000146076	None	None	215	None	5

The following transcripts of ENSDARG00000023797 do not overlap with this mutation:

• ENSDART00000134252
• ENSDART00000137202
• ENSDART00000147641

Genomic Location (Zv9):

Chromosome 18 (position 33965873)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	35645641
GRCz11	18	35624489

KASP Assay ID:

2261-2415.1 (used for ordering genotyping assays)

KASP Sequence:

Flanking Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa10230

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
ENSDART00000036015	Essential Splice Site	1113	5060	25	104
ENSDART00000138178	None	None	164	None	6
ENSDART00000142757	None	None	2712	None	61
ENSDART00000146076	None	None	215	None	5

The following transcripts of ENSDARG00000023797 do not overlap with this mutation:

• ENSDART00000134252
• ENSDART00000137202
• ENSDART00000147641

Genomic Location (Zv9):

Chromosome 18 (position 33965730)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	35645498
GRCz11	18	35624346

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa23340

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

Mutation:

G > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000036015	Nonsense	1247	5060	28	104
ENSDART00000138178	None	None	164	None	6
ENSDART00000142757	None	None	2712	None	61
ENSDART00000146076	None	None	215	None	5

The following transcripts of ENSDARG00000023797 do not overlap with this mutation:

• ENSDART00000134252
• ENSDART00000137202
• ENSDART00000147641

Genomic Location (Zv9):

Chromosome 18 (position 33959261)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	35639033
GRCz11	18	35617881

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Flanking Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa14191

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:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000036015	Nonsense	1527	5060	32	104
ENSDART00000138178	None	None	164	None	6
ENSDART00000142757	None	None	2712	None	61
ENSDART00000146076	None	None	215	None	5

The following transcripts of ENSDARG00000023797 do not overlap with this mutation:

• ENSDART00000134252
• ENSDART00000137202
• ENSDART00000147641

Genomic Location (Zv9):

Chromosome 18 (position 33952604)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	35633161
GRCz11	18	35612009

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa14094

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 > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000036015	Essential Splice Site	2049	5060	37	104
ENSDART00000138178	None	None	164	None	6
ENSDART00000142757	None	None	2712	None	61
ENSDART00000146076	None	None	215	None	5

The following transcripts of ENSDARG00000023797 do not overlap with this mutation:

• ENSDART00000134252
• ENSDART00000137202
• ENSDART00000147641

Genomic Location (Zv9):

Chromosome 18 (position 33944614)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	35625171
GRCz11	18	35604019

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa23339

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

Mutation:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000036015	Nonsense	2432	5060	45	104
ENSDART00000138178	None	None	164	None	6
ENSDART00000142757	Nonsense	84	2712	2	61
ENSDART00000146076	None	None	215	None	5

The following transcripts of ENSDARG00000023797 do not overlap with this mutation:

• ENSDART00000134252
• ENSDART00000137202
• ENSDART00000147641

Genomic Location (Zv9):

Chromosome 18 (position 33934199)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	35615041
GRCz11	18	35589887
GRCz11	18	35591888
GRCz11	18	35593889

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Flanking Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa23338

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

Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000036015	Nonsense	3314	5060	67	104
ENSDART00000138178	None	None	164	None	6
ENSDART00000142757	Nonsense	966	2712	24	61
ENSDART00000146076	Nonsense	38	215	1	5

The following transcripts of ENSDARG00000023797 do not overlap with this mutation:

• ENSDART00000134252
• ENSDART00000137202
• ENSDART00000147641

Genomic Location (Zv9):

Chromosome 18 (position 33906509)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	35587351
GRCz11	18	35562197

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Flanking Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa9444

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:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000036015	Nonsense	3757	5060	79	104
ENSDART00000138178	None	None	164	None	6
ENSDART00000142757	Nonsense	1409	2712	36	61
ENSDART00000146076	None	None	215	None	5

The following transcripts of ENSDARG00000023797 do not overlap with this mutation:

• ENSDART00000134252
• ENSDART00000137202
• ENSDART00000147641

Genomic Location (Zv9):

Chromosome 18 (position 33888895)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	35569737
GRCz11	18	35544583

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa36692

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

Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000036015	Nonsense	4180	5060	89	104
ENSDART00000138178	None	None	164	None	6
ENSDART00000142757	Nonsense	1832	2712	46	61
ENSDART00000146076	None	None	215	None	5

The following transcripts of ENSDARG00000023797 do not overlap with this mutation:

• ENSDART00000134252
• ENSDART00000137202
• ENSDART00000147641

Genomic Location (Zv9):

Chromosome 18 (position 33854508)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	35535350
GRCz11	18	35510196

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Flanking Sequence:

Long Flanking Sequence:

Associated Phenotype:

Allele Name:

sa23337

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

Mutation:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000036015	Nonsense	4709	5060	94	104
ENSDART00000138178	None	None	164	None	6
ENSDART00000142757	Nonsense	2361	2712	51	61
ENSDART00000146076	None	None	215	None	5

The following transcripts of ENSDARG00000023797 do not overlap with this mutation:

• ENSDART00000134252
• ENSDART00000137202
• ENSDART00000147641

Genomic Location (Zv9):

Chromosome 18 (position 33848005)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	18	35528847
GRCz11	18	35503693

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

Flanking Sequence:

Long Flanking Sequence:

Associated Phenotype: