ZMP

smn1

Ensembl ID:

ENSDARG00000018494

ZFIN ID:

ZDB-GENE-990715-16

Description:

Survival motor neuron protein 1 [Source:UniProtKB/Swiss-Prot;Acc:Q9W6S8]

Human Orthologues:

SMN1, SMN2

Human Descriptions:

survival of motor neuron 1, telomeric [Source:HGNC Symbol;Acc:11117]
survival of motor neuron 2, centromeric [Source:HGNC Symbol;Acc:11118]

Mouse Orthologue:

Smn1

Mouse Description:

survival motor neuron 1 Gene [Source:MGI Symbol;Acc:MGI:109257]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa40538	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa14881	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa40538

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 > G

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000028099	Essential Splice Site	40	281	2	9
ENSDART00000127956	Essential Splice Site	40	280	2	11

Genomic Location (Zv9):

Chromosome 5 (position 45423501)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	5	43204766
GRCz11	5	43804919

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TGATACAGCTTTGATTAAAGCATACGATAAAGCTGTTGCATCATTCAAGG[T/G]AACAGTGATGCTTAGAAATGACACTTCAGTTTACCTTGTTTCTTTAGTAA

Long Flanking Sequence:

ATGTGAGCATATATCTGATTCCTTTTACTCATTTTTAGTTGTTGTTTTGTTAGCTGCACATCTAATAGAAGTTATTTTTATATTCTTTACCTTTGTAATTTGGTCTTACAGTTAGGTAAAGGGATTGTTTACCCTAAACTGAAAATTCTGTAATCATTTACTCAGAAAGTAAAACCTGTAACCACTGACTTCCATAACATTTGTTTTTCCTACTATGAAAGTCAATAGTCACAGAGTTTCAGCTTTCTTCAAACTATCTTCTTTTGTGTTTAGCAGCTGAAAGAAACTCAAAAAGGTGTGGAACCAGTTGAGGGAGAATAAGTAACGTCAGAAGTTTTAGTTTTGAGTTAACTATCATTTTAGAAAAACACAACAAAACTGTAGCATATAAGAGTTGAGTGTTAAATGATTCCTTCTCTCTCTTCAGAGTGATGATTCTGACATTTGGGATGATACAGCTTTGATTAAAGCATACGATAAAGCTGTTGCATCATTCAAGG[T/G]AACAGTGATGCTTAGAAATGACACTTCAGTTTACCTTGTTTCTTTAGTAAAATTGATGTTGTTTTTCACCTCTTTTGTTCAACAGAATGCTTTGAAAGGTGAGGATGGGGCGACCCCACAAGAAAACGACAACCCAGGGAAGAAGAGGAAAAACAACAAAAAGAATAAGAGCAGGAAGAGATGCAACGCAGCACCGGATAAAGAGGTAATTACAAACCATCTCTCAGTTTGTTTGGAGTTATAATACAAGCTGATGAACTGAATGTGTTTTGTAGTGGCAGGTTGGAGACTCCTGTTATGCGTTCTGGTCTGAAGATGGCAACCTGTACACTGCCACCATTACCTCAGTCGACCAGGAGAAGGGCACCTGTGTGGTCTTTTACACAGATTATGGAAATGAGGAGGAGCAGAACCTCAGTGACCTTCTGACTGAGCCTCCAGACATGGATGAAGATGCTCTGAAGACAGCAAATGTATGAAGAGTGTGAAGTTCACACCAC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa14881

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:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000028099	None	171	281	5	9
ENSDART00000127956	Essential Splice Site	171	280	6	11

Genomic Location (Zv9):

Chromosome 5 (position 45422863)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	5	43204128
GRCz11	5	43804281

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GAAGAGAGTGATCGCTCTTTCACCCCACAGAAGTCMGGTCATGCAAAGCA[C/T]AAATCTAAAAGCAATTTTCCTATGGGACCYCCATCATGGTTTCCCRGTTT

Long Flanking Sequence:

GGAAGAAGAGGAAAAACAACAAAAAGAATAAGAGCAGGAAGAGATGCAACGCAGCACCGGATAAAGAGGTAATTACAAACCATCTCTCAGTTTGTTTGGAGTTATAATACAAGCTGATGAACTGAATGTGTTTTGTAGTGGCAGGTTGGAGACTCCTGTTATGCGTTCTGGTCTGAAGATGGCAACCTGTACACTGCCACCATTACCTCAGTCGACCAGGAGAAGGGCACCTGTGTGGTCTTTTACACAGATTATGGAAATGAGGAGGAGCAGAACCTCAGTGACCTTCTGACTGAGCCTCCAGACATGGATGAAGATGCTCTGAAGACAGCAAATGTATGAAGAGTGTGAAGTTCACACCACTTAGATGTTTAAGCATTGAATTATGCAGTTGCATAATATTGACGTTTGTTTGCTTTAACACAGGTCAAAGAAACAGAGTCCTCCACAGAAGAGAGTGATCGCTCTTTCACCCCACAGAAGTCCGGTCATGCAAAGCA[C/T]AAATCTAAAAGCAATTTTCCTATGGGACCCCCATCATGGTTTCCCAGTTTCCCACCTGGACCGCCACCACCACCACCCCACTTTAAAAAGGTGAATATCTCTGACTGCCATTTACTTACTTGCATACATACAAAAAGAGTTAGTTCACCCAAAAATACAGACTTTTCACATATTAGCAATATAAAGTAATATGTGGACATTTTTATGTTTGGCATAAACATTATGTATTAATAGGGCACCTATGATGAAAGCCCTCTTTTGTAAGCTGTTTGGACAAAACTGTATGTAGGGTTAGTGTGTCCACAGTAATAATAGAGTAATATAAAGACAATAAGTCTCTTTTTTTAATTGCCTGTCATTAAAAAAGGATCCAAGTCCTTCCCGCAACATGATGTAGGAGAGCGGTTTTCCCGCCCAACAAATTGATTGACAGCCGCATATTAACATTTCTCCGTTGTAACTCGTATAATTATATCAACAAGACAGGATGTGCGCAAAGC

Associated Phenotype:

Not determined