ZMP

ENSDARG00000012949

Ensembl ID:

ENSDARG00000012949

Human Orthologue:

SCMH1

Human Description:

sex comb on midleg homolog 1 (Drosophila) [Source:HGNC Symbol;Acc:19003]

Mouse Orthologue:

Scmh1

Mouse Description:

sex comb on midleg homolog 1 Gene [Source:MGI Symbol;Acc:MGI:1352762]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa18090	Essential Splice Site	Available for shipment	Available now
sa15449	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa18090

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:

A > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000006669	Essential Splice Site	297	684	13	20

Genomic Location (Zv9):

Chromosome 11 (position 31015412)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	29892774
GRCz11	11	30139958

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TCAAAAGCTTGCGCTGTATTTCAGTTGGTTTTGTTCTGAATGGGTTTTTT[A/C]RGATTACAGYTGGTACCGGATTGCGATGTGGGTAWCAGTCTGGACTTGCG

Long Flanking Sequence:

TGTGGTTCCTGGTCATATATAATCCCAATGCAGCATAGCATATCTTGTAACGTTATTATTGCGGACGCACACATTGAAATCAATGCTAAAACGATGTATTGTGTAGCCCTATGGATGTTAAAAGTTCTTTATAGACCCACCTATATTTAAGAGTTTAATGATTTCTTTTAAAACTGACCAGATTAATCTTTGTAAAATACATTTAGTCTAATTGATCACCTTGGAGCCTCATTTTGAGGTATTTTTAGAGCTGTTTATTAGCACCTGATATGCATTCACCTCTGATCCTGTCTTCACACTTACAGTGAGAATAATAGGGCAGGTTTTCCTAATAAGTGTTTCTGCTTTCACACATCTCACACACAACGGCGAATTTAATGCATTTAAAGCAAATGTGTGAGACATAGCTGTAAAATTTAGCTCTGTTTGCGTGTTTGTTAATGAAAATTCTCAAAAGCTTGCGCTGTATTTCAGTTGGTTTTGTTCTGAATGGGTTTTTT[A/C]GGATTACAGCTGGTACCGGATTGCGATGTGGGTATCAGTCTGGACTTGCGGGATGCGTTTGAAAGCACATTAATGCCTCCAGCCGGAGCATCATTCATGCCTCTCTGGACCCGTTTGCTCTGAATCTGATCTCCATTAACCTTTTAGCCCCTAAAAGCCTGGGAGGAGCTTTCAAATGGCAGAAGAATGATGATTATGAGTGGCTGAATGTTAAATGTGAAAGTTTGTTAGAGTTGACGACAAAACTATAGCTTCAGTTTCTTATTTGTTTAGCTCGTTGATTTATCTTAATCATTAAAAAAAGGTAATTATTAATAGTATTATTAACTATATTAAGAATGAAGATTATGTTTATATTATAATGTCACATTTATAAATAATAATGAATTATATTATTATTACAAATGTTATTTTAAGAATCAAATCAATTCTATATTTAAAGACGTAATGGAAAATAATAATTACTATTATAATTTAATCAATGGCTTTTCTTTAATATT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa15449

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:

A > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000006669	Essential Splice Site	346	684	15	20

Genomic Location (Zv9):

Chromosome 11 (position 30998321)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	29875683
GRCz11	11	30122867

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

AATTATTTGCTGGTTTTGAATTGTGCTTTATATTTGCGGTCATCTCTTCT[A/C]GTTTGTGTCTATGTGAATAAAYATRGTAACTCTGGRCCACACCTGGAYCG

Long Flanking Sequence:

AGAGACTCGGGCGTTGTGTCTACAGGTAGGGTTCTATGCTTTTCACTATGCTATGCATTTATACGAGTGTGTTTTCATTTTAAAATGCTGTTTTTATAATCAAAACACTCATTATCCATATTAGTGTATCCTGCATTTCAGAAAAACAATCTTTATCCACACTGTACAGCAAAATCACATCATACAAAACCATTCTGATATAGTGTATATATCTTTGGTAGTGTGAGTGCAAAGTATATAGTCACTTATATTTATATTGAGTTTTGTTCTGAAGTGGGTAATGTTTAAAAGATTTGCTGCCAATTGAAATGTGTTTTATTTTTAGATTAATTCTAAATTCTTGTTTGATTTTGCGTTTAATATTTGTATATAGGCAAAAATGTTATATAATTTCATTTATAATAAAGAGGGTGATCTTTACTTTTTTACCAAATGCAGCTATACAGTCTTAATTATTTGCTGGTTTTGAATTGTGCTTTATATTTGCGGTCATCTCTTCT[A/C]GTTTGTGTCTATGTGAATAAACATGGTAACTCTGGGCCACACCTGGACCGTAAGCTGTTGTTACAGCTGCCGGATCATTTTGGGCCGGGCCCCGTGAACACGGTTCTCCAGCATGCGGTTCAGGCCTGCGTGGACTGTGCGTTTCAGCCCAAAGCTCTCTTCAGCTTCCTGCAGTCTCAGTCTGATGGTGGGGAAATCATCAGAGGTCAGTTTAAATCTCTTTCAGTGAGTCTTTGATTTAAAAAAGGCCTGTCTGTCGGTGAGGAAAAATACTTTTGAAAGACAAAATTGGTTTGAGTGTAATTCTAGTTTTAACAAATGCTTCATAATAATTTATGCTTTATAATAATAACTTGAAACTTTTTGATGCCTTATTAAAGGGGATCTATTATTCCCCTTTCTACAGGATCTAAAATAAGTCTTTGAAATCCCAAGAGTGTTTATGTAAAGGTGAACTCAAAATACTCCACAAATAATGTTTTATAACTAGAGCTGGGCCA

Associated Phenotype:

Not determined