ZMP

ENSDARG00000052772

Ensembl ID:

ENSDARG00000052772

Human Orthologue:

RETSAT

Human Description:

retinol saturase (all-trans-retinol 13,14-reductase) [Source:HGNC Symbol;Acc:25991]

Mouse Orthologue:

Retsat

Mouse Description:

retinol saturase (all trans retinol 13,14 reductase) Gene [Source:MGI Symbol;Acc:MGI:1914692]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa21997	Nonsense	Available for shipment	Available now
sa18065	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa21997

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:

C > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000074692	Nonsense	84	614	2	11

Genomic Location (Zv9):

Chromosome 12 (position 3844110)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	3405865
GRCz11	12	3234754

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AATAGGAAGTGGGATCGGAGGAATGACGGCTGCAGCCACAATGGCCAAAT[C/A]AGGGAAGAAAGTTCTGGTTTTGGAGCAACACGACGTGGCAGGAGGCTGCT

Long Flanking Sequence:

ATAAAACACTGGTCTTTTCATCTGTCACAGTTTTTTTAGTGCAGAAAAATATTACTTAAGATTTCATGAGCGCAACGGCTTTGAAGTCATTTTTTTTACTCGTATTCATGTTCAGGATAACATCTGTCAAAAAAATATACATATACAACTATATATATTGTATGCATGTATGGTGAACTGTGTGCATATAATATTATATATAATACTTGAATAATGTAACTGCAATACTGATTAAGTAAATAAACCAATGTGAATAAATAAGACTTTCTCCAGAAGAACAAATATTATAGAAAATACTGTGAAAAATTCCTTGCTCTGTTAAACATCATTTGAACAATATTTGAGAAAGAAAACAGAGCGTTAATACATTTGACTTGAACTATATTTACGTACTTTATATGTTCAAGGATTTACCAAGGAAAAGATTCCAGCGAATCTTGATGCGATTATAATAGGAAGTGGGATCGGAGGAATGACGGCTGCAGCCACAATGGCCAAAT[C/A]AGGGAAGAAAGTTCTGGTTTTGGAGCAACACGACGTGGCAGGAGGCTGCTGTCACACTTTCACTGAGAAGGGCTTCGAGTTTGATGTGGGTACGTACAATCTTTATCAGCAGAGCTTCATTTTTAGATAAATAAATAAGCCTCAAGACACAAGACAACCACCTCAGTCAGTCACAACATTAGAATCACTGGGCTCTATTTTAATGATGTAACGCCCCATTCACACGGGGCGTCAGCGTCAACGCTTCCCATTCACTTTGAATGGATGACGTCAGGCGTTGCCGAACTGCATTGTGGATCCGTCAGCGACACTTCAGAGGCGTTGCTCGCTGCAGAAGTTGGGACCAGCTCAACTTTTCAAGCGCCAACGGAAGCGTCAGCCAATCAGATCGCTGTATGCAAATACACCAGCTAGACAGTGGCCTATTGCTGACTGAATTTCATTGGCTGACGCTTCTATGACGATCGTTTTAGACCAAACTTCAGACACGCCTTCAGTCA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa18065

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
ENSDART00000074692	Nonsense	476	614	9	11

Genomic Location (Zv9):

Chromosome 12 (position 3833076)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	3394461
GRCz11	12	3223350

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TGGTGAATTATGAATGGTTCGAGGACTGGAAGGACACGCGAGTGAGGAAA[C/T]GAGGAGACGATTATTTCAGCTATAAGCAGAGATTTGCAGACCAWATCTTT

Long Flanking Sequence:

NNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAATTTTTTATGCAATCATTTATTGTATTCAGATTTTTAAAAATATCTTTTGTAAAGAAGAAGACGACTTATGTATACAAAAAAGTTACAAATTTTACACTGTAATTCTGCTTAATATTATGTGCTGTCATCATAGCAAAGATAAAATAAATCAGTTATTAAAATGAGTTATTAAAACTATCATGTTTGGAAATGTGTTAATCTTCTCTCTGTAGCAGAAATTGGGGAAAAAAATATGAAAGAATCAAAACTTAACAGGAGGGCTAATAATTCTGAATTCAACTGTGTGTTAACGTGATGATCTTCCAGGAAAGTCCTGTATGACCATCCTGACCATGGTGAATTATGAATGGTTCGAGGACTGGAAGGACACGCGAGTGAGGAAA[C/T]GAGGAGACGATTATTTCAGCTATAAGCAGAGATTTGCAGACCATATCTTTAACTGGGCTTGCCAACATTTCCCCAAACTCAAAGACAAGGTATCAGAAAAAACTGAAGTGTGTACATTTTTCAGTGCTAAAATCCGTTTGTCCTGTCCCTGTTGTAAGTCTTTTAAAGGTGACCTATTATGGCCTTTTTTACAAGATGTAAGACAAGTCTCTGATGTCCCAAGAGTGTGTGTGTAAAGTTTCAGCTCAAAATACCACACAAATAATGTTTTATAATTCTTTGAAACTGCATCTTTTAGGCTTTGATCCTAATTGTGGCATTTTGGTGACTGTGAGATTGCCCTCTTTTCTAAAGAGGGCGGAGCTACACACACCCATGTGTTAGCATAGTGGCAGATTCAAAACTCTAATGGCAGGCGGTTACTTCTTACTCAGGGCTGTTTATGCTAATGAGGGACAGATCATAACTAATGGGCGGGGCTTTCCCCCTCTGATGACACA

Associated Phenotype:

Not determined