ZMP

zgc:154039

Ensembl ID:

ENSDARG00000029621

ZFIN ID:

ZDB-GENE-061103-295

Description:

phosphatidylcholine:ceramide cholinephosphotransferase 1 [Source:RefSeq peptide;Acc:NP_001071082]

Human Orthologue:

SGMS1

Human Description:

sphingomyelin synthase 1 [Source:HGNC Symbol;Acc:29799]

Mouse Orthologue:

Sgms1

Mouse Description:

sphingomyelin synthase 1 Gene [Source:MGI Symbol;Acc:MGI:2444110]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa12691	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa12691

Status:

Available for shipment
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Availability:

Order Allele From ZIRC
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Mutation:

T > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000048526	Essential Splice Site	240	404	3	6
ENSDART00000139054	None	None	113	None	2
ENSDART00000142418	Essential Splice Site	240	404	3	6

Genomic Location (Zv9):

Chromosome 12 (position 6788654)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	6071574
GRCz11	12	6105158

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CATTACTACTCTTCCYGTGCCTGGCATGCACTTCAAATGCTCTCCTAAGG[T/A]AAAATARATCTWTCTRTWTTACATMATTTGTTTACTCTTTAAYCCTTTCA

Long Flanking Sequence:

CCTTCCAGCTGCAACCCTGTGTTGGGAAACAACCACACACTCTCTCACATGCACACACATACACTACAGCCAATTAGGTTATTCAATTCACCTATACCGCATGTCTTAGGACTTTGGGGGAAACCAAAGCACCTGGAGGAACATGGGCAGAACATGCAAACTCCACACAGCCAGGACTCATTCCAGCGACCTTCTTGCTGTGAGGGGACAGTGCTAACCACTGAGCCACCGTGCCACCATAAAATTGTTTAAATGATATTTATTTAAAATAATTCACATTTTTAAGTTTGTTCAGTTGTCATTACCATGACTGTGAGATTTTCCCTAGTGATATGTTGTGTGATGTTAAATAATTAACCCCTGTATGTCATCCGTCCACAGATCAATCGTTGCTCGACGCTTCTGTTTCATAGTCGGGACGCTCTACCTCTACCGGTGCATCACCATGTACATTACTACTCTTCCCGTGCCTGGCATGCACTTCAAATGCTCTCCTAAGG[T/A]AAAATAGATCTTTCTATATTACATCATTTGTTTACTCTTTAATCCTTTCAACAACTGCTTTGTCTATTTCAATGAACATCACATATGTATTGTATTTAAATTGTTATTCAAGAGTTCACACTTCGATATTGCTTGACAACTGTTAGCAGGTTTGGCATGCTGTCCCGGGAGAGAACCCTGAGCTCGGAGATAGTTGAGCCCAGGGCTCCCGCCAGGTCCATAGAGCATGTGAGGGGAGTACGAGATCAGGTGTTTCTCGAGAGCTCCCCTTTTTTAAAGGAGGAGAAAGGGGTGGAAGGGGGGGTTTCTTCGGAAAACGAAGATAAGGGAGTAAATCTAGCTAGGCTACTTATAGTGAGTTATGATAGATCTGATTGGCTAACTAATGAGTGTAGATGGGAGGCCAGCTGCAGTCAATTATATCACGTGTTCCTCTCGAAATTAGTTTGAAAAACTTCACTCATTATTTTTTTTGCCATATTACCAAATTTAAAGCCTGC

Associated Phenotype:

Not determined