ZMP

smcr8a

Ensembl ID:

ENSDARG00000052818

ZFIN ID:

ZDB-GENE-071212-4

Human Orthologue:

SMCR8

Human Description:

Smith-Magenis syndrome chromosome region, candidate 8 [Source:HGNC Symbol;Acc:17921]

Mouse Orthologue:

Smcr8

Mouse Description:

Smith-Magenis syndrome chromosome region, candidate 8 homolog (human) Gene [Source:MGI Symbol;Acc:MG

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa45149	Nonsense	Mutation detected in F1 DNA	Not yet available
sa31350	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa45149

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:

T > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000074746	Nonsense	718	853	2	2

Genomic Location (Zv9):

Chromosome 3 (position 40253280)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	3	40116640
GRCz11	3	40258498

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TTTTTATTACAGAGCTGTCTCTCCGGCTGGATCCAGCATCCTCCACTCTT[T/A]GAATCGATACAGCCGTTACATAAGCATTTTGGACTGTGACAACAAAACCC

Long Flanking Sequence:

ATTAAGGTAAAAAATAAGGCAAACAAATGCATTTGTCAGCGTTATGAACACCACTGAAAATACAATGTAAATCCTCTTAAATTTTAAATCATAAATATTTACTGTATTATTTTTTCAAGTGCCCACAAAATCAATATTGTACATTTTCATTATCCTGATACATTGAATATTGAATTTCAGCATACATCTACCTGTAGTCGATCAATGTGTAGGGCTGCACAATATTGTAAAACTCTGACATTGTGATATAAGTTTTGCAGCAATATATATTGCGATTATGAATATAATTAAACCAGATGACTTGAATAGCTCTATTTGGAAAGATCTCATTCATTCAGATCGACTGGGGTGTTCTGTCATAGCTTTAAAATCAGTTTGCAGGCAATGCTTTAAATCATTGACAAAAAGTGCAGCGTCTGATTTATTGTATTTCCAATTCTTATTTATTTATTTTTATTACAGAGCTGTCTCTCCGGCTGGATCCAGCATCCTCCACTCTT[T/A]GAATCGATACAGCCGTTACATAAGCATTTTGGACTGTGACAACAAAACCCTCCGGTGTCCGCCATACAAGGGAACACTAATAAGCCACTTGGCAGACCACAGGACTCAGATCAAACGTGGCAGCACCTACTTCCTCCACATTCAGGGTATGTTGACTCAGCTTACAGCCAAGGCCTTCCTTTATACATTCTGCCATCACATTCACCTTCCCATGGACATCAACGACCAGGGCTCGGTAACATCGCGCAGGACTAATTTCTTGTTGCAGCTCGGCTACACTGTGGAGGAAAGTAAAATCATCCAGTACCTGAGTGAGCTCATCAAGCAGCATTACATTCACGGGTCCGCCAAAGTGGGCAACCCGTCTTTTTCTTTTAATTACACCACCAGCTATTTGTATAAGATCTGAATGTGTCCGCTGTATGTTCGACATTACGTTTCCCAATCCTGTTCCTAAAGGCACACCAACAGTACACATTTTCAACCTAATTAAACACGCC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa31350

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 > G

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000074746	Nonsense	779	853	2	2

Genomic Location (Zv9):

Chromosome 3 (position 40253464)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	3	40116824
GRCz11	3	40258682

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CTCCACATTCAGGGTATGTTGACTCAGCTTACAGCCAAGGCCTTCCTTTA[T/G]ACATTCTGCCATCACATTCACCTTCCCATGGACATCAACGACCAGGGCTC

Long Flanking Sequence:

CATCTACCTGTAGTCGATCAATGTGTAGGGCTGCACAATATTGTAAAACTCTGACATTGTGATATAAGTTTTGCAGCAATATATATTGCGATTATGAATATAATTAAACCAGATGACTTGAATAGCTCTATTTGGAAAGATCTCATTCATTCAGATCGACTGGGGTGTTCTGTCATAGCTTTAAAATCAGTTTGCAGGCAATGCTTTAAATCATTGACAAAAAGTGCAGCGTCTGATTTATTGTATTTCCAATTCTTATTTATTTATTTTTATTACAGAGCTGTCTCTCCGGCTGGATCCAGCATCCTCCACTCTTTGAATCGATACAGCCGTTACATAAGCATTTTGGACTGTGACAACAAAACCCTCCGGTGTCCGCCATACAAGGGAACACTAATAAGCCACTTGGCAGACCACAGGACTCAGATCAAACGTGGCAGCACCTACTTCCTCCACATTCAGGGTATGTTGACTCAGCTTACAGCCAAGGCCTTCCTTTA[T/G]ACATTCTGCCATCACATTCACCTTCCCATGGACATCAACGACCAGGGCTCGGTAACATCGCGCAGGACTAATTTCTTGTTGCAGCTCGGCTACACTGTGGAGGAAAGTAAAATCATCCAGTACCTGAGTGAGCTCATCAAGCAGCATTACATTCACGGGTCCGCCAAAGTGGGCAACCCGTCTTTTTCTTTTAATTACACCACCAGCTATTTGTATAAGATCTGAATGTGTCCGCTGTATGTTCGACATTACGTTTCCCAATCCTGTTCCTAAAGGCACACCAACAGTACACATTTTCAACCTAATTAAACACGCCTAAATCAACTCATCAGAACATTAGAGGACTCCAAAACCTGAAGTTAATGGGTCAAATAAGGGAGACTGTAAAATATGTACTGTTGATATGCCTCCAGGAAAAGGGTTGGGAAATGCTGAATTAAAGAGATAGTTCGGCAAAAACTGAAAGTTCGGTCTCTTCGCTTGTTCCAAACCTGGTTGAG

Associated Phenotype:

Not determined