ZMP

smarcc1a

Ensembl ID:

ENSDARG00000017397

ZFIN ID:

ZDB-GENE-080514-3

Description:

Smarcc1 protein [Source:UniProtKB/TrEMBL;Acc:Q7ZUU5]

Human Orthologue:

SMARCC1

Human Description:

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 [S

Mouse Orthologue:

Smarcc1

Mouse Description:

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 Ge

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa16518	Nonsense	Available for shipment	Available now
sa22926	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa16518

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
ENSDART00000109259	Nonsense	482	1089	16	28

Genomic Location (Zv9):

Chromosome 16 (position 45216859)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	16	42541942
GRCz11	16	42445700

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GTTCATGTTTGTTTTGCTGTCTAAATTGCYTTTTCTCTTATTTGTAGTTA[T/A]CTTGCCTATCGTAACTTCATGATTGACAMTTACCGGCTGAATCCTCAGGA

Long Flanking Sequence:

TGGTAAATTACAGTTGGCATTTGAGAAAATGCCATTAAATTTTTTTCTTGGAATTCTATACAACAGAATACTGTAACAAATGGCATCTGATATAATGTGACAAAGTATGTATATTTATATAAATATATAATTTGTACATCTTGGAAAGTGCTTAAAGTGTTTAAATTTAACTCTGGAAAATGTGTAAGAATTCTGAAACTCCCACATGCATTATCTATTAGTTTTATGCATTGTGCAATTGAATTGAGTCATAAAGTTTAATGCATATTAAATGTCCTTTTTTCCAGTATACATGAAATTGAGAGACGTGCCCTGCCAGAGTTCTTCAATGGCAAAAACAAATCGAAGACTCCGGAGATGTACGTTCAACCTTGTACTTCTGTCATGTAGACTAGACTTTTATATAAGATCAACATGCATCATCCTGTTGTGTTTCTTTGTGGTTCTTTAGTTCATGTTTGTTTTGCTGTCTAAATTGCCTTTTCTCTTATTTGTAGTTA[T/A]CTTGCCTATCGTAACTTCATGATTGACACTTACCGGCTGAATCCTCAGGAGTACCTGACCTCAACCTCCTGCAGGAGGAACCTCACTGGAGATGTCTGTGCGGTCATGAGGTCAGAATTCTCATTTAAATATCTGACTTCATTATAATAATATACAGAGAGTGGGTTCAGTTGGACTTTCAATTTTAGTTGGTGTGGCTATTTCAAGTATGAAAAGACATCAGTAATTTAATGTTGCATTTCCGTCAAGCCATTTAAAGTCCATAGCAAATCAAAAGTTGCTGATGTGGCAATGTGCAAACCATATTTAGCTCAGTGTTGGATATATTAAATAACAAAATCTAAAAATCTGTTTTAATGTTATTTTTTTTACCCTCTCATTGAATTATTAAGTTGTCTATATTAGCACATTCATTGTTGCATATATGTATATCTACATTTGTTTAATAGTTTTAGATTTTTCATTAGTTTTAGCTTTTTTTTTCAAATTAATTTAGCTTT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa22926

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:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000109259	Essential Splice Site	886	1089	24	28

Genomic Location (Zv9):

Chromosome 16 (position 45202243)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	16	42527326
GRCz11	16	42431084

KASP Assay ID:

2261-0202.1 (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CGCCACCGCTGCAGCCGCCGCTCTGGCCTCTGCCGCCACCAAGGCAAAGG[T/A]AAAGCATTCAGACTGCAATGTTTAGCAGTTCTTGAACTTCCTCTGGTGAC

Long Flanking Sequence:

GCTAATATTAGCATTTTCCAAGATCTCCTATTGCTGCTTTAACTAGAGTTGTGCTTTGGATTGACAGAAATGCATCTTAAAACTAGCAAACTCTGATATTTTTGAAGGACAAGGCTATGAGTTGTATCAGAGTTTGAGGACCCAAGTGTATTTATTCACAGCATTTAGTCCCGTTCTCTTTTTAGTCCTTCAGGTGGTTATATATTGAAACGATAGTGTATTGGAAAGATGATTGTGTATTGGAAAAATGATAGTGTACTGGTAAAAAAAAATACATATTTTAAGTCCTTAAGTTTATTCTAAAATGTTTCTAACAAACCCATATGGTCATTTACTTTCAGAGAAAGAAAAAGAGGAGGCCATGGAGACCACAGAGGAAGGGAAGGAGGATGAGGAGGAGCAGGAGGAAGGAAAGAAAAAGCTGGAGTTGGATATTGGAGAGGGCAACATCGCCACCGCTGCAGCCGCCGCTCTGGCCTCTGCCGCCACCAAGGCAAAGG[T/A]AAAGCATTCAGACTGCAATGTTTAGCAGTTCTTGAACTTCCTCTGGTGACACCGACTGCTTTGTGCAGCTGTCTCCAGTTTTTAATCACTCTGGCGGCTAAGTTGATTTCATGTACTGTCTTTTCTTCTTTTCTTTCTCAGCACCTGGCTGCAGTGGAAGAGAGGAAGATCAAATCTCTTGTTGCTCTGCTAGTGGAGACTCAGATGAAGAAGCTGGAGCTCAAACTCAGACACTTTGAAGAGCTGGAGACCATTATGGACCGTGAAAAGGAAGCTGTGAGAATTTTTTTTTCTTTTACGTTTTTTATAGATAAATTCACCCCTCTTTCCAATTCTGCTTCAAAAAAACACTTGTGTCATAACTACACATTATGGTTGAATCACTATTAGTCTCTTTAATTCATTATTTGTACAGCTAGCATCTTTCAATAGTGTGCTTTCCAAAATAAGCAGAGCAAGAGAAAATATACATTTAAAGGCCTTTCTTTTAGTGATGATCG

Associated Phenotype:

Not determined