ZMP

sptlc2

Ensembl ID:

ENSDARG00000018976

ZFIN ID:

ZDB-GENE-050522-23

Description:

serine palmitoyltransferase 2 [Source:RefSeq peptide;Acc:NP_001018455]

Human Orthologue:

SPTLC2

Human Description:

serine palmitoyltransferase, long chain base subunit 2 [Source:HGNC Symbol;Acc:11278]

Mouse Orthologue:

Sptlc2

Mouse Description:

serine palmitoyltransferase, long chain base subunit 2 Gene [Source:MGI Symbol;Acc:MGI:108074]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa23036	Nonsense	Available for shipment	Available now
sa17532	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa23036

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 > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000123350	Nonsense	111	558	3	12

Genomic Location (Zv9):

Chromosome 17 (position 17641810)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	17791821
GRCz11	17	17811657

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AGAATGTGTTCCTGTTTCTTTTTGTTTCTGAAGGACTTTGTTCCACTTTA[T/A]CAAGACTTTGAGAATTTCTACACCAGGAATTTATACATGAGGATTCGGGA

Long Flanking Sequence:

TAGATAATATTTAAAGAAATCTATTTATATTTGATTCACAAAAGTCATACTTCTTTCAATAAACAAAACTTAGTCTTTTTTTTGAGTTTTTAATGCAACATTTCTTAACTTTTCATGGTTAATTGGTACAAAAAGTATTTATACTTATGCCGGAAAGGTAATTTCCTTCCTACTTTTTAGTGACTTTCTGAAAAATGAAGCTGTGTGTAAAGCATTACGGAAATTTATTGGTGAATAAGTTTGGGAGGAAGAGGTTATTCTGACATAGGAAGGATATTGTGCAGTTTACCGTTACTGTAAAGTACTTTAGGGCACTGAAAGGTTGAGCTTTGTTTTGCTAGCCGCCTTTTATGGATGTTATTCTTTCTAAAATATTGGATCCAAGACAACTCTGTCACCAAAAAGTAAGGAGCTGTTTTCTGTTAGTGAAATAAAAAAAGATCAGACATGAGAATGTGTTCCTGTTTCTTTTTGTTTCTGAAGGACTTTGTTCCACTTTA[T/A]CAAGACTTTGAGAATTTCTACACCAGGAATTTATACATGAGGATTCGGGACAGCTGGAACAGGCCCATTTGCAGTGTTCCCGGGGCCAAGTTTGACCTTGTTGAGCGCAGTTCCAATGATTACAACTGGACCTTTGAGTAAGTGGGCTGTCTTCAATCTGAACGGAAGGAAAAAAAAATCACATCTTGCTTTTTTTTTTTTAACCTTCCAAAATGAGAGCTGAATTAATGATTCTAATATCAAAGTCACTTTCGAGTGCATGTATAATAAACTTTCATAAGGAAGGCTGCTTTAAAGTATAACCTGAAATATGAGGTGGCTGAGGTTGCATGTACCTAATAATCCAGTCTAGAGATTGATGAGGTCATCAAGGTGTAGTGTTCACTCAAAAGAAATCTCACACAAGCGTATTGTGCTCTTTCAGGTACACTGGGCGAGTGGTGAAGGATGTGATCAACCTGGGATCGTATAATTACCTGGGCTTTGCAGAGAACACTGGC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa17532

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:

T > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000123350	Essential Splice Site	207	558	4	12

Genomic Location (Zv9):

Chromosome 17 (position 17642385)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	17792396
GRCz11	17	17812232

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GTGACTGTGAAATTTGGGGTGGGCGTGGCCAGCACCAGGCAGGAAATGGG[T/A]AAGTGCTCATTGGTTARTMATGCTTTTTAAGATAATTCGCCACAATGCAC

Long Flanking Sequence:

TGTTCCCGGGGCCAAGTTTGACCTTGTTGAGCGCAGTTCCAATGATTACAACTGGACCTTTGAGTAAGTGGGCTGTCTTCAATCTGAACGGAAGGAAAAAAAAATCACATCTTGCTTTTTTTTTTTTAACCTTCCAAAATGAGAGCTGAATTAATGATTCTAATATCAAAGTCACTTTCGAGTGCATGTATAATAAACTTTCATAAGGAAGGCTGCTTTAAAGTATAACCTGAAATATGAGGTGGCTGAGGTTGCATGTACCTAATAATCCAGTCTAGAGATTGATGAGGTCATCAAGGTGTAGTGTTCACTCAAAAGAAATCTCACACAAGCGTATTGTGCTCTTTCAGGTACACTGGGCGAGTGGTGAAGGATGTGATCAACCTGGGATCGTATAATTACCTGGGCTTTGCAGAGAACACTGGCTCATGTGCTACAGCTGCTGGAGAGGTGACTGTGAAATTTGGGGTGGGCGTGGCCAGCACCAGGCAGGAAATGGG[T/A]AAGTGCTCATTGGTTAGTCATGCTTTTTAAGATAATTCGCCACAATGCACTTGTCATGATTGTAATGTTTAGATTCATGCAAGGGATTAGAGCGTAAAGCCGCGGTCACACTGTACTTTTCTCCCCATAGACTTCCATTCATACCACAGACCGGAAACGCAAGCTCATGCGACAAGTTTCGCTGTTTGCTGTGTTGGAAAGTTCAAGCTTGGGGAACTGTGACCTGTAAAATCACATCACGTGATTTCGTAAGCCCAATCAAAGATCAAATCATGACCTCTCTGTACCAAGATGTAAAATATGGACCATTCGCTCATTTAAAAAAAAAATCTTCTTGTTTAATCTGGCCTCTTTTCGCAGCGCCGTACTACAGAATTTTGCATGCTTACACTATAGTGTGACTGCGGCATCAGACAGTGATTCATATTTTATAGAGCATTAAAAAAATTGGTGTCTTGGATATACAGCAAGTCTAGAAACTTTACTGTACACCATCATTT

Associated Phenotype:

Not determined