NR_023320.1

Ensembl ID:

ENSDARG00000005236

Description:

im:7138264 (im:7138264), non-coding RNA [Source:RefSeq DNA;Acc:NR_023320]

Human Orthologue:

SRCAP

Human Description:

Snf2-related CREBBP activator protein [Source:HGNC Symbol;Acc:16974]

Mouse Orthologues:

AC122417.1, Srcap

Mouse Descriptions:

Putative uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:Q8BKT0]
Snf2-related CREBBP activator protein Gene [Source:MGI Symbol;Acc:MGI:2444036]

Allele Name	Consequence	Status	Availability
sa17300	Nonsense	Available for shipment	Available now
sa15343	Essential Splice Site	Available for shipment	Available now
sa22109	Essential Splice Site	Available for shipment	Available now
sa22110	Nonsense	Available for shipment	Available now
sa16953	Nonsense	Available for shipment	Available now

Allele Name:

sa17300

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
ENSDART00000003080	Nonsense	1036	3917	5	32

Genomic Location (Zv9):

Chromosome 12 (position 28643081)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	26980690
GRCz11	12	27072050

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CCCTGCAGGGYGCCCCTGTACAGAGTTCAGACAYTGCAGCTGCCTCCAAA[C/T]AGTCACAGCCTAATCCTGTTGATGAGGATGGTGAGGATTGGCATTTGGTT

Long Flanking Sequence:

GCCTATTGTAAAAGAAACACCTCAATTAAATACTCTAAAATGTAATCTAGAGTTTCAGGACTCTCGAAATGAAAATCTCAACATGTTTTCAGGTAGTCCGAATGGTCATGCGACACCATGAGGAGTTGAGGCAGAAGGAAGAGAGAGCAAAACGTGAGGAGCAAGCCAAACTGAGAAGAGTTGCTTCTTCTATTGCCAAGGAGGTCCGTGCCTTCTGGAGCAGCGTTGAAAAGGTGCTCTTTTATAGGAATCCCTATTGCCATCTCTATGAAATCTGTTGCTATAAGAACGGTGATTCACGCTTTCATCTGATTCCTGCTTATTGCTGTACACAGGTGGTCCAATATAAACAACAGTCCAGACTGGAGGAGAAGCGGAAGAAGGCTCTAGATCTTCAGCTGGATTTCATTGTGGGTCAGACAGAGCGTTACTCAGACTTGTTAAGTCAGTCCCTGCAGGGCGCCCCTGTACAGAGTTCAGACATTGCAGCTGCCTCCAAA[C/T]AGTCACAGCCTAATCCTGTTGATGAGGATGGTGAGGATTGGCATTTGGTTTATTGTCAGTGTTCAGATAAAGTTACTGTAATAAAATTGAACTGAAAATCTGAACTAGAAATGGTGTGTTTTTGATCACATTAAACAAGTCTTGTTCTTACTGAGCTTATATTGTGGCTTTTTGTCCTGCAGATAGAGACTTTGAGCCCCCTTGTGAGGAAGAGGATGACGAAGAGACTATAGAAGTTGAGGAGCAACAAGAGGGGAATGATGCAGAAACACAGAAGCGAGAGATTGAGTTACTGAGGGAGGAGAGCACACTGCCTCTTGACCAGCTACTCAGTACTTTAACTCTTCCCCAGGTATAGCCATCTTCAAGGGTCAACTCCATCACAGCAGTCATATGCTTTGTTTTCAGCATTATTGTTTGGGTAGCCTTGTTACACAGTCTCTGATTAAAGCGATCTATCACTTTATTTTTTTTAGTTCACATATATTAAATATTTTTCT

Associated Phenotype:

Not determined

Allele Name:

sa15343

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
ENSDART00000003080	Essential Splice Site	1454	3917	13	32

Genomic Location (Zv9):

Chromosome 12 (position 28645385)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	26982994
GRCz11	12	27074354

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TCAAGAACTTTAAGTCCCAGCGCTGGCAAAGCCTGCTCAATTTTAACAGG[T/C]ACTTGAATACAACAATATCTGTTAAGGGCTTGATCATTTATTAWCAGTGG

Long Flanking Sequence:

ATACTTTATAATCTGTGTTGAGCTCAAAGTGGATGTACACCTTTTTATGACAGGCTTGCTTTTATAGGTAACTGGGGTCCACATCTGATCATTGTGCCAACTAGTGTAATGCTCAATTGGGAGATGGAATTGAAGCGCTGGTGCCCAGGATTCAAAATCCTCACCTATTATGGCAGCCAGAAGGAGCGCAAGCTGAAGAGACAAGTAATTATTACAATAATGAGAATATAAATACAACATGAATTACAAAATAAAATGAACTCTGTGTTTTAATGTAGTTTTTCAGTCATCTTGATTTTAGATTTTTTTCATTTTTCCTTTCTTGTCAGGGCTGGACCAAACCCAATGCTTTCCATGTGTGCATCACCTCATATAAGCTAGTACTGCAAGATCATCAGGCTTTTAGACGCAAGTCTTGGAGGTACCTCATTTTGGATGAAGCCCAGAACATCAAGAACTTTAAGTCCCAGCGCTGGCAAAGCCTGCTCAATTTTAACAGG[T/C]ACTTGAATACAACAATATCTGTTAAGGGCTTGATCATTTATTAACAGTGGCCTGTTGAACAAAACTCAGAGCCAAATGGCACACTATGCACTTACACACTCATCAGCATAGTATATGAATGTAGCGTTGTCCCAAATGGAACACTACTGTTTTTTTACTGAGCGGAAATTCCCTGATGATGGTTAGAACAATCGCCTCACAGCAAGAAGGTTGCTGGTTCGAGCCCTTGCTGGATCAGTTGGTATTTCTGTGTGGAATTTGCATGTTCTTCCCGCGTTCACATGGGTTTCCTCCAGGTGCTTCGATTTCCCCCATAAGTCTAAAGACATGTGGTACAGGTGAATTGGGCTCTGGTGACCCCAGAATAATTAAGGGACGAAGCCAAAAACAAAATGAATGAATGAATGTTTGATTGACGGTTGGCAACTCAGTACCTAATAATACCTGTTTTTATTGTAAATGCACTACTTGCACTATTTATACTACTAAATGGCATAGAA

Associated Phenotype:

Not determined

Allele Name:

sa22109

Status:

Available for shipment
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Availability:

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Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000003080	Essential Splice Site	2450	3917	29	32

Genomic Location (Zv9):

Chromosome 12 (position 28656993)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	26994602
GRCz11	12	27085962

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CAGATGATGAGGAGTCCATCAATAAACAAAAAACCACCATTTTGGAACAG[G/A]TAAATTAAATGTATCTATTTGGGGTATTGAATTTGTTTTTCTTGCAAGAT

Long Flanking Sequence:

GACAGTGATTGGAACCCAACCATGGATGCCCAAGCTCAGGACCGGTGCCACAGAATTGGACAGACGAGAGATGTCCACATCTATAGGTAAAGACTAAACCTTTATATAAAAATAAATGATTAACATGGCACATATTATTGCAGCACATTTAACATCTAACATTTTTATTTAGACTGATCAGCGAACGCACAGTGGAAGAAAATATTCTTAAAAAAGCCAATCAAAAGAGGATGCTGGGAGATATGGCTATTGAAGGCGGAAACTTTACCACTGCCTTTTTCAAGCAGGTATGATTCAATTTAAAATATTTTTTTACAGAGAAATCATAGCCTTGATTAAAATTTAGATGAATTGATGATTCAACTCTTTCTTTCCCACAGCAAACTATTAGAGAGTTGTTTGATGTGACAGAGGGAGAAAAGAAAGAAGCTGAACAGAGTGTGCCTCAGTCAGATGATGAGGAGTCCATCAATAAACAAAAAACCACCATTTTGGAACAG[G/A]TAAATTAAATGTATCTATTTGGGGTATTGAATTTGTTTTTCTTGCAAGATGTTTATAACAAATGAGATGAGATTTTATGTTTTATTTTTATTCCAGGCCCTGTGTCGTGCTGAAGATGAAGAGGACATAGTGGCTGCATCTCAAGCAAAGGCAGAGCAGGTGGCTGAGCTTGCAGAGTTTAACGAGAATATACCTCTAGATGACGGTGACAGTAGAGACCAAGAAGAGGAAGAGCTTTCCAAGGCGGAGCAGGAAATTGCTGCCCTAGTTGAACAGGTAGGTATTTAATACATATTTACTCTTTTTAATTTTAGAAAGTAGTATTATTTACAGTGGATTTATGATTTTTTTATTGTCCATCCTTTTTTTAACAGCTCACTCCCATTGAGCGTTATGCCATGAATTTTCTTGAGGCTTCCCTCGAAGATATTTGCAAAGAGGAGTTGAAGCAGGCAGAGGTAAAAGCTTAAATAAAACAGTAACCAAGCTTTGATCTTTTT

Associated Phenotype:

Not determined

Allele Name:

sa22110

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
ENSDART00000003080	Nonsense	2816	3917	32	32

Genomic Location (Zv9):

Chromosome 12 (position 28658389)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	26995998
GRCz11	12	27087358

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GGGAAATTCTCAAGGGACTTCCAGAAGATTCTCCCTCAGCCAAGGTCCTT[C/T]GAAAGCTTCCAGGTCGTCTGGTCACTGTGGTGGAGGAGAAAGAGCCAAAG

Long Flanking Sequence:

AGCTTCGCAGTGGCCCACGAGGGCGATGTACAACCAAAGAATCTGCGTCATTAGAGAACCAGACTATCCCAACCAACCAGCAGCTTATAGATTCAACAACCTTGTCCCCTGCTATGCGGGATTCATACCCAAAAATTAGTGTGCCATCCCCTCACCAACAGTCCATCTCCCCATCAAGCTCTGTGCCTTCAGCTGCTGCATCTCCCTCATTGGACAGAAACTCTTGTGGCCATCTGTCTTCCTCTACTGTTGCATGCAGAGAGGACAGTGAAGACCAAAAGGGAGAAGCACGGTCTGAAAATGTACAGAGCAGAGATCGGAGAGCCTCTGCATCATCAGACTCCATCTGTTCTCCAGAACATCACTCTGAACAGGAGTGTCAGCTCTCTCTTTCTCCCACTCTAGCATCACCTAACTCTCGCTCACCACGAAAGCGGCAGTCTGCTGAATGGGAAATTCTCAAGGGACTTCCAGAAGATTCTCCCTCAGCCAAGGTCCTT[C/T]GAAAGCTTCCAGGTCGTCTGGTCACTGTGGTGGAGGAGAAAGAGCCAAAGCGGAGACGGAGAGGTGTGAGTGGGAGTGGAGGATTGCATGAAGGTTCATCAGAGGAGCCTGAAAAGACTGAGCCAGTTCAAGACACAGTCCCTCATTCATCTGATGGATCAACTCAAACTTTTAAAGTCTCTCCTCCCAAATCTGTTCTCACATCCTTACAATCTTCCCCACCACCAACACCACGAGAGCAGGAACAGACCTCTTCGCCATTACCTTATAGTTGTATAGGTCGAGGACACAACCCCTGTTCTCCAACACATCATTCCCCAGATATGCCTGTCTTGCGGAACTTACCAGTACGCCGAAGGCTAGAAACAGAGTCCCGATTGGCTGCACAGTTAGGAGAGCAATTTTTAGGGAGAGGTAGAGGAGTGGATCGAAAATCTGCATCAACTCAGAAAAGAATAGAAACAAGCACTGACAAGGACGGTTCTGCTCCATGTGACTCC

Associated Phenotype:

Not determined

Allele Name:

sa16953

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
ENSDART00000003080	Nonsense	3169	3917	32	32

Genomic Location (Zv9):

Chromosome 12 (position 28659448)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	26997057
GRCz11	12	27088417

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CCTCTACAGCAGCACCMTATGAAACTTGTACTGATTCTTCTCCTACACTA[C/T]AGTTTACATATTCTTTCAGAGAGCCTCCAGTTACTACTGTTTCAATCTGT

Long Flanking Sequence:

AGTTGTCAGAAGAAAACACACCTGTAATTGAGAAAACAAGTCCTGAGCGGAGCCCCCCTCACTCACCAAAACGGAAAAGGGGACGTCCTCGTAAAGATTCCACCACAACTACAGGCTCACCCCCATCTTCACCCTCTGCTGGTGCTCCTTCATCCCAAGAGCCTAATTTGTCAAGGTCTAATGTCATGCCTGAGACTTTGCCTACTGACAGTAAAATTTCACCAATAAGCTCTCCAACACTCTGCCCCACTTCACCCTTAAATGCTGCTGAAGTGTCCTCACTTCCAAAACCAGATTCTGAAATAATTCAGACCACTACATCGGTTTTACTGTCCACATCTCCATCAGAAACTGGTGTAGACTCGCATGGTGATACTTACGCCAGTCTGAACACCATAAGTTCATGCAATGACTCTGACAACAGTACACTTGTATCTTTACCACACAGCACCTCTACAGCAGCACCATATGAAACTTGTACTGATTCTTCTCCTACACTA[C/T]AGTTTACATATTCTTTCAGAGAGCCTCCAGTTACTACTGTTTCAATCTGTGCTGAGGAAATTGCCCACACGTCTGTACTTTCTGATGCCAGTGAAATCACTGCTTATTCAGAATCTTTAACTGTCTCAACGGCTGCAGTAGAAGCCGAGGAAAATTCAGTCACGGATAATCAGCAAGTAAATAATTTGCAGCCTTCAAATACATCGACTCAAGTCACTTCACAATGCGTAGATGAAACCGATCCAACTACAGACCTGCCACAAACCACTTTAGAGCCAATATACAGTGTAGCTGAATCTTCTACTCCCACTGATCAGCCATCCATCCAACCTAGTTCTCCACCTGCTTTGACTTCTGAAATTGAACCTGAAGCATCTTCATCTATATTGGAGGCACCAGAAACATCTGCTGTACAGACTGTGTCAACAGTTCAAAGATCTTTACCTCAGTCTGAGCAAATTTCTCCTCCGTCACAACTTCAAACTACAGCAATGGAAGCA

Associated Phenotype:

Not determined

ZMP

Alleles

Mutation Details

Mutation Details

Mutation Details

Mutation Details

Mutation Details