ZMP

smcr7a

Ensembl ID:

ENSDARG00000060991

ZFIN ID:

ZDB-GENE-060810-64

Description:

Smith-Magenis syndrome chromosomal region candidate gene 7 protein-like [Source:UniProtKB/Swiss-Prot

Human Orthologue:

SMCR7L

Human Description:

Smith-Magenis syndrome chromosome region, candidate 7-like [Source:HGNC Symbol;Acc:25979]

Mouse Orthologue:

Smcr7l

Mouse Description:

Smith-Magenis syndrome chromosome region, candidate 7-like (human) Gene [Source:MGI Symbol;Acc:MGI:2

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa45139	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa14161	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa45139

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:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000089325	Essential Splice Site	109	468	4	6
ENSDART00000124731	Essential Splice Site	109	468	2	4

Genomic Location (Zv9):

Chromosome 3 (position 25243606)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	3	25011791
GRCz11	3	25142339

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CAGTCGCTCATTGCAGACACTGCCCACCTCCTCCAGCTCTTTCAAGCCAG[G/A]TAATGAATCTCTGCTGCCTCGCTGAAACAACATCCTGTGCTTTTGTATGA

Long Flanking Sequence:

TAAAGGTTTAAAAGTAAGTTTTAAGGTTCAACTGTTAAAAGTAAGCCATTTATATTTAAAATAAAATAAAAATAAAAAAACATGTTTACAAATAAAAAAACATGAATTGCTTCAAAATGAAAAAATAAGCTACAATCTTAAGTTGGGTTCAGTAATATATTTCTGTCCTGCAGCATTAAATTAACAGTGGCTTTTACATTGTTTACATGTAAGCTTATTATTGAACCTCCTTTTAAGAAATACTTTGTTACTAGTGCTGAACTACATTTTAGAAATATACTTGAAATATTGATGTAGAATTTATTGTGATTACTCTCAGATGTACGATCGAGCTCTCAGTGCCCCATCCAGTCCCACAAAAGCAGACCCATCAGGACGGAGAAGCTGGGAGGAGCCGAGCTGGTTGGGGTCATCTCCACGCACACTGAACCATGACATGAAACAAAATGTCAGTCGCTCATTGCAGACACTGCCCACCTCCTCCAGCTCTTTCAAGCCAG[G/A]TAATGAATCTCTGCTGCCTCGCTGAAACAACATCCTGTGCTTTTGTATGAGACTGCCATAATGGACCCTTTTCACATTTCTGGGTTTCTCAGTAGCGGAAGTCGTCATAGTTGGGGAAAACTTAGAGCGCAGTGAATGGGAGAATACAAAAAAAAAAGTACAATCTTAATTACTCATATAACAAAATAAAAATCCACAATAGTGTTAAAACGACTTTTAGAAAAAGGAAAAAAAATTGTGTGAGACTGAAAACGGCAGCCAAAGGAGAGAATAACGTCAAATGTACTGTCCTGCTCCAAAGACGCTGCATTAGAAATGCCTCACACAAGCGGTAATTTGTTTTTTGTAATTTGAAGCAAAGACAATATGCTACATACGTAAATACATATAAATGTTCATACGTTTTTAAAAAAAAAAATCTAAATATTAAAAACATTCAAGTATTTGAGATGCTGAAGACCGTTAAACACATCATAACAGGATTGTGAAAAGGGTTAATA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa14161

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
ENSDART00000089325	Nonsense	399	468	6	6
ENSDART00000124731	Nonsense	399	468	4	4

Genomic Location (Zv9):

Chromosome 3 (position 25239530)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	3	25007715
GRCz11	3	25138263

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CCAGGTTRAACGCAAGCCAGCTCACGAATGCAATCCYTCTCCTGAGTGAM[C/T]AGGAGGGCGATTGGACTCAAGAGGCGCTCGCCGACCGTTYCATGCAGCTT

Long Flanking Sequence:

CGTTGGTTCGGCGTGAAAACCTGGAGTACTTTCCCCGAGGTAGCAGCTACTGGGACCGTTGCATGGTGGGTGGCTACCTTTCCCCAAAGAGCGTTCTAGAAGTCTTCGAGAAGCTCGTCGCGGGTTCCATCAATTGGCCCGCCATCGGTAGTGTTTTAGATTACGTCATTCGTCCTGTGGTTCCATCGGAAACGCTCACTCTAGAAGTGCAGTACGAAACGGACCGCCGGCTGTATGTGGACTTCCTCCCATTGCTTGTCATGGAGGATGGCGTATCGTTGATCGCCAAACCGCATCGATTGGCTGCAGAAAGACACGAAAACCTGTGGCGGCAGAGCTTTCGCGTGGCAGAAACGGCAAAGTTGCGCGCACTTGATCAGGAAGACGCCGGGTGCCGTTCGGTGTGTCTTAAAATCCTTAAAGCCGTGTGTAAACTGAATCCAGCGCTGGCCAGGTTGAACGCAAGCCAGCTCACGAATGCAATCCTTCTCCTGAGTGAC[C/T]AGGAGGGCGATTGGACTCAAGAGGCGCTCGCCGACCGTTTCATGCAGCTTCTTCGTGCGCTAGTGGGACATTTAGAGGCTGGGAGGATGCCTTGCACCTTAAATCTAAAAGTCAATCTGTTGTGCGAGTTAACACCGCAGGAAATAGATGAACTGGGATACACACTCTACTGCGCGCTGTCTGATCCTGAGAGCCTTTTGAGAACTGTTTAATCAATGCATGCACACACACACACACTACCACTGTTTCCACGCAAGCTGATACACAATCCAAAATAATTCTTATGTCACGTCATTTTCACACTTTTATATTTTTCAATTATACCATGGTTAATTGTCTTCAGGTAAATCTGTCTATTTTTTACAGCATGGCAAATCTCATTTAGGAGTTTTAGGCTTTGCTGATTCACACTTCAGTGTCATGAAGATTATATATTTATCTAGTGGAGGATCAGATTATCATTTTAGTGATCCCTATGTGATATTTTTTTATAAATTCAT

Associated Phenotype:

Not determined