ZMP

zgc:153516

Ensembl ID:

ENSDARG00000059629

ZFIN ID:

ZDB-GENE-061103-142

Description:

Aspartate beta-hydroxylase domain-containing protein 2 [Source:UniProtKB/Swiss-Prot;Acc:A0JMH0]

Human Orthologue:

ASPHD2

Human Description:

aspartate beta-hydroxylase domain containing 2 [Source:HGNC Symbol;Acc:30437]

Mouse Orthologue:

Asphd2

Mouse Description:

aspartate beta-hydroxylase domain containing 2 Gene [Source:MGI Symbol;Acc:MGI:1920148]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa16978	Nonsense	Available for shipment	Available now
sa21353	Essential Splice Site, Missense	Available for shipment	Available now

Mutation Details

Allele Name:

sa16978

Status:

Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

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Mutation:

C > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000083066	Nonsense	105	371	2	4
ENSDART00000140127	None	None	87	None	2
ENSDART00000141707	None	None	178	None	2

Genomic Location (Zv9):

Chromosome 8 (position 41929856)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	8	39943436
GRCz11	8	39977210

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GTTGGAGGAGGTGGAGTCAGTGATGAAGAACTCAATGGGTTTGCCTACTG[C/A]CAGTCCTCAGAATGCTTCCGGTGCACYAAACCTGGTGAAGGCCTGAACCA

Long Flanking Sequence:

AAGCTTCTTGATGAGGCAGGAAAATGAAGCAAGAACAGGAAGCGAAGGCGGTGTTGCTGGACTGAAATACCAAATCAAGCTCTTCAATGCGCAACCCAACCAATTAGAGCACCCTCAATCAAATCTACATGTACGTCTGAGCGTGTGTGTCTGAGCTAGCGCTTGAATCTATGTTCTTATGCAGGGATGGAGTGGTCTTTAGAGCGGATGAGGGAATGGGTGGCAGGTGGCATGCAGTCGGTGCGAGAGTGTGAGTCCAGCGCTCTAGGCACTGCTCTTTGTCTCGCCCTTCTGTTTATCTGGTACTGCTATCGTGTGGGATGTGAACACACCAGCCCATCTCTCCGTGGCGGTTTCAGCCCTGAGCCGCGTGTTGGCGCTGTACCTGGCGTTCTGGCCTCAGAGCTCTCGTCCCGTGGAGGCTCCTCCAAACTCCGGCAGATCGGTGGGGTTGGAGGAGGTGGAGTCAGTGATGAAGAACTCAATGGGTTTGCCTACTG[C/A]CAGTCCTCAGAATGCTTCCGGTGCACCAAACCTGGTGAAGGCCTGAACCAGCGGCTGTACCACAGCCTGCAGGAGTACGCCAAACGCTACACCTGGGCTGGCATGGGCCGCGTGCACAAGGGCGTACGCGAACAAGGCCGTTATTTACTCTGCAGCCGTCCGTCTATCCAAAAACCTGAGGTTTTCTTCTTGCCAGACCTTCCCTCAGCTCCTTTCTTCTCCCGGGAAGCGCAGAAGCATGACGTGGAGCTCCTGGAGAGAAGTTTCCCTGCACTTCTGGCTGAGTTTGAAAGTGTATACCGGCTGCCATCCAGTCGGACCGGCTCTTCACTTCCACCTGGCTGGAAGGCCAACAGTACCCCCCGTGGCCAGTGGTGGACCTTCTATCTGGTGAACCAGGGTACTCCAATGGTGCTGAATGCCAGAAGGTGTCCACGTACATGGAGGGTTCTTGGGCAGCTCCGTACTTTTATTGCCAATAATGTGTTTGGAAATGCCTG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa21353

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:

G > A

Consequence:

Essential Splice Site, Missense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000083066	Essential Splice Site	335	371	3	4
ENSDART00000140127	None	None	87	None	2
ENSDART00000141707	Missense	170	178	2	2

Genomic Location (Zv9):

Chromosome 8 (position 41927430)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	8	39941010
GRCz11	8	39974784

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

AAGCTGCCTGCTGTTCGATGACTCTTTTCTTCACACTGCATTTCATGATG[G/A]TGAGAAAGACAAACAATGCATTGCCTAAATGTAATAGATAGTAGAGCACA

Long Flanking Sequence:

TTTGAATACTGTAACCTTAGTATAAATAAATAAATAAGTCGCAAGGATATTTTCCTAGTGTTGGGTTGCAGTTGGAAGGGCATCTGCTGTGTAAAACATATGCTGGACAAGTTAGTGGTTCATTCTGATGTGATGACCCCTAATTAATAAAGCAACCTATCTGAAAAGAAAATGAATGAATGAAAGTTTGCAAGGAAACTAATTTAGAGGCAGATTTTATTTTCTATCAAACGGATTTTCAGGCGCAAAACTTTAAATCAAACGTGCCCAAACATCTGACAGGTATTGTGTGTTTTAAACCACTGTGATGCACTATCTGTCTGTTTAAGGTATATTCATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCAGGACTGAAGGTGCCCTCTGGTTGTGAGCTGGTAGTCGGTGGAGAGCCGCAGTGCTGGTCTGAGGGAAGCTGCCTGCTGTTCGATGACTCTTTTCTTCACACTGCATTTCATGATG[G/A]TGAGAAAGACAAACAATGCATTGCCTAAATGTAATAGATAGTAGAGCACAGGCCTTTGATATAAAATAAAGAGTGCAGTGGTGGTCAGCTGATATGAATTTTTAATGCCGAAAAAAAACATTCAGTGATGCTGACATCTTATGCAGCAGTCTGTCTGACACAATCCCTATCAAACTATACATGATCTTACATTATTTAGTTTAAACATATAAAGGTTTGAATTATACATTTTATATATTTCAGATATTTATTATATTTAAAAATACAGGTTTATATTAACTTTAAAAGGAATTTCTTGACTCTGTACTGTTTATTAATTAATAGTAGACTACCTGACAAATGTCTTGTCGCCTATCCAAGTTTAAGGAACAACAAATAATAGCTTGTCTTGTAGTTGATCATTCGCTATCAGAAATGGCTTCAATGAAAGACAAATCTTCATCTTACCAAAGACATGCTCAATAATTTTCATCTCTGGTGACTGGGCTGGCCAATCCTGG

Associated Phenotype:

Not determined