ZMP

smarcd2

Ensembl ID:

ENSDARG00000088877

ZFIN ID:

ZDB-GENE-080215-1

Human Orthologue:

SMARCD2

Human Description:

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 [S

Mouse Orthologue:

Smarcd2

Mouse Description:

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 Ge

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa13736	Essential Splice Site	Available for shipment	Available now
sa45453	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa13736

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 > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000127343	Essential Splice Site	171	501	4	13

Genomic Location (Zv9):

Chromosome 12 (position 11219366)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	10102437
GRCz11	12	10140280

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TGCTCGCAAACGCATGGARATACAGGAGGCCATCAAAAAGCCCATCACGG[T/C]AGATGTWATCAATTGRAGTAGAAATACAGACGTGACTTTTGATTTTGTTT

Long Flanking Sequence:

CAGTGTTTTTGCTCAGTCATTCTTTAAGGAAATATCCATAATTTTGTAAATGTTTATTAAATATATTAATAGTTTAATTTTAAGTCTTGTGAGGAAGGATTTGTTGGGAATTGGTTGGATAGGATTGTTTAAGATTAACTGTTGCGTACAGTTAAGGTCTCCAGCACTCAGTAATTGAAATAATATTTGAACATATGTCCGTGTTGAGTCATGTTTTTACACATCTGCTCCACATTTTCAGAGTGAAGAGGCGTAAGATGGCTGACAAAGTCCTCCCACAGAGGGTGAGTTTAGCCAGAGTAGCATAAATCAGTTTTTTGTGTGTGTGTGTGTGTTCCTTAAGTGCATAGTTTCTCATGGTTTCGCTGTTCTCCAGATCAGGGATTTGGTCCCAGAGTCTCAGGCATACATGGACCTTCTGGCCTTTGAAAGAAAACTGGACCAGACCATTGCTCGCAAACGCATGGAGATACAGGAGGCCATCAAAAAGCCCATCACGG[T/C]AGATGTTATCAATTGGAGTAGAAATACAGACGTGACTTTTGATTTTGTTTATGTTAAAGTGATAGGTCATTGTATACTTTACCATTTTTAATTTCTCTCTCTCTCTCTCTCTGTGCAATAAAAACAAATATTAACTGGATGTTGGTAACCAAACAGAAACATAAACAGCTTTACAAAGACCTGAGGTTGAGTAAATGATGAGAGAGTTTACCTTTCTCTTTGGAGCAACATCAAGAAACTAACCAATTTGTTTAACCCATTCATTAACTAACCTAGTCTACGGTGACCTAGGCTCCATTTACACTGCATGGTTCAAGTGACTCAATTCGGATTTTTTTTTCTTCCATGTGGCGTCAGATATGGCGCATGTACATGTAAGCAGGAAAAAATCACATGGATTCCGATTTACTCAAATCAGATTTAGGCCTTGTTCAAATGTGGAAATGTATCCAGTACGAATCGGATCTGTGTCCTTGTGTCTGCAGTAGGGATGGGTACAG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa45453

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000127343	Nonsense	499	501	13	13

Genomic Location (Zv9):

Chromosome 12 (position 11238615)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	10121686
GRCz11	12	10159529

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GATTTCAGGTCCAGCAGAGGAGACAGGAGTTGGAGCAGGTACTTGGAATC[C/T]GACTCACTTAAGAAGATTCAGACTCCAAATCCACAATCATCCGAGCAACT

Long Flanking Sequence:

CTACTCTAATATTACCGACTCTATAGTACTGACTCTAATAGTACCGACTCTAATAGTACCAACTGTAATATTACAGAATCCAGTAGTACCAACTTTAATTGTACTGACTCTAATAGTTCCGACTCTAATATTACAGACTCTAGTAGTACTGACTCTAATTGTACCAACTCTAATAGTACCTACTCTAATATTACCGACTCTATAGTACTGACTCTAATAGTACCGACTCTAATAGTACCAACTGTAATATTACAGAATCCAGTAGTACCAACTCTAATAGTACTGACTCTAATAGTTCCGACTCTAATATTACAGACTCTAGTAGTACTGACTCTAATTGTACCAACTCTAATAGTACCTACTCTAATATTACCGACTCTAATATTACCAACTCTAATAGTACCGACTCTAATAGAACTTCCCATAGTAAGCGCTCACCTTTTTTCACTTGATTTCAGGTCCAGCAGAGGAGACAGGAGTTGGAGCAGGTACTTGGAATC[C/T]GACTCACTTAAGAAGATTCAGACTCCAAATCCACAATCATCCGAGCAACTGATTCAACAAATGTTGAATCAGTTTCTGTTTCATAACCAGCGGATGCACTTCATGTGGGTTTTTGGTACTGGTCATAAACAGCTTGTCAGGTGCAGCATTTGCAGTACCATTACACACATCTGGCCAAATATATTTCAAGCGCTGTTACAATAACTGGAATGCCTCAGTTGCTATCTTCCCTTCTCTGGTCTTTATTTCTATATTGTGAAAAGAAAATATGAAAATAAGCCATTGAGTTCATGGCCTTTATTTGACATACACTCATACACAATAATACTCTTGTAATTTTTTTACAGTACAATGCAGTACTGTAGTTTGTTTGTTAAAACCCCATTGGAAATAGATAACAATCTTGATTTTGTGTTTTTAGTAGGAATTGCTGAAGTCAATTTGCCATTTTGTTTCTGATTCTTACAGCAAAGGATATTCCAACAAAATTAATTGCACAC

Associated Phenotype:

Not determined