ZMP

p4ha1

Ensembl ID:

ENSDARG00000071082

ZFIN ID:

ZDB-GENE-030131-4089

Description:

procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha 1 polypeptide [Sou

Human Orthologue:

P4HA1

Human Description:

prolyl 4-hydroxylase, alpha polypeptide I [Source:HGNC Symbol;Acc:8546]

Mouse Orthologue:

P4ha1

Mouse Description:

procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha 1 polypeptide Gene

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa10102	Essential Splice Site	Available for shipment	Available now
sa14912	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa10102

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:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000104874	Essential Splice Site	25	536	2	15

Genomic Location (Zv9):

Chromosome 17 (position 19994582)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	20144593
GRCz11	17	20164429

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TTTCCTCTTCCACTTCCTGTATGCCCACAATGACTTTTTCACTTCCACAG[G/A]TGAGACRAGCTTCYGTTGTTTTTGTTGYAGACTGTAKTTATATWTTWTCA

Long Flanking Sequence:

ATTAAAGTCAGATTTATGATACGAGTGATGTCATTTTTTGGTATGTTTGTCTAGTGAGGTTTTTTTTTTTGCTCCAGGCTTCCCCCCTGTTTGCCCTAATTGTCCTTTTTCACAAACAAACGTGACATCTTGTTTATACACGCTGATACTGGCTTAAACGAACAAAAGGGATCTTCCTGCATGCTCTTTGTTTGCCACTGGGTGCCACATTGGTGCTGAAATTCCAGTGACCACATGCAGCCATGCGTATCCAAATGTGTGTGCACTGGGAGTTATAAAAATCAAAACCTCATTTTTGTTTTTGTTTTAGCAGGCTGCACATGTTAGTTGTTTTCGTAACACATTTTTCTTGTCCTGAGACTTAGTTCTAGACTCATTTTGTGTTCAGTGCATTACATGTGAGACACTCTTTATTTCTTCCAGGATGATGTTGGCTTGGTTCCTGTTGAGTTTCCTCTTCCACTTCCTGTATGCCCACAATGACTTTTTCACTTCCACAG[G/A]TGAGACGAGCTTCCGTTGTTTTTGTTGTAGACTGTATTTATATATTATCAGGCTGTACATCCTTCCAAATACATGATGTATGGAAGAAAACCATACAGAAGGCTTTTTATGAAATGCACTCACTCAAGAAGATATTCAGCAAAGTGTCACCAGGAAATTTTTTTTTTTTTTTATTACGCCTGCGGCTACAAGTTGTATAATTTCAGCATCGATATCGCAATGTGCAAAACTGCAATGGTCTCATAGCAGGATCTGTAACGCCATGTTGGGATTTATAAAACTTGACCTAATCTAATAGGTTCTAATATTGTGAAAGGCTTTCATTTTTCTATATTTTTAAGCCCTGTGACTGTAAGGTTTCAATCAAATGTAAAAATTTGAGCACAAGGAATTGTTAAGTTTGCAACTTTAGTAAAGATTAAAGGTTTAATTATTCATACAATGAAGACTATATGGTGTTAATGTACATTTGATTATTGCATTTCTGAACCTTAATGCTG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa14912

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 > G

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000104874	Nonsense	391	536	10	15

Genomic Location (Zv9):

Chromosome 17 (position 19980028)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	20130039
GRCz11	17	20149875

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CAAYCATTCTATCTGTTTCTCCCTCATTCTAGCGCTTGGCTGTCTGGATA[T/G]GAACATTCTACCATTGAAAGGATTAACCAGCGTATTGAGGATGTAACAGG

Long Flanking Sequence:

AAATAAAAAAAGGAAACCATTTTATTAATTTGATTGAAAAACCTGCAGATATCAGTTATCAATGACTTTTGAGAAAAACATTTCATGTTAGGAAACATGTTTTCAATAGCTTAGGGGTCTCTGTCTCTTACACACATGCACACTCTTTCCTCATATTCTCTGTGAACCGAATGACTGTTCGAAAACTAAACTCATTTTTGCTGACCGCTGTCAATTTTCTTCTTTAATTCCTCTTTCCACTGTTTACTCATCAGTCTGCGTCCGCCTTTATCACAATCAGACAATTTCACATTCATGTTGGCTAAATACAATACACGTTTTGGTTCATATTTCAAATTGTCTTATGAAGTGAAAATGCCTGAAAGTGATTCCATGTGCATGTTGTAGCATGTGATTTATTTATAATGTAACGCATTAAATGCTTTTGCAGTTCTTTGTTTAATTTTTTCACAACCATTCTATCTGTTTCTCCCTCATTCTAGCGCTTGGCTGTCTGGATA[T/G]GAACATTCTACCATTGAAAGGATTAACCAGCGTATTGAGGATGTAACAGGTCTGGAAATGGACACAGCAGAAGAGCTGCAGGTAAATCAGATGCTTTTAGTCTTTAGAAAACCAATCCACCAGTTGCAATAATGATCTGTTAAAAAAAGGTTGTCATATTCAATGTTTTCATCTCAGGTTGCAAATTATGGAGTTGGGGGTCAGTACGAACCTCATTTTGACTTCGGAAGAGTGAGTTCCTGCATCTTTTATTTATTGATTAATAAAATGTACATACGTTGAATTTGCAGTGTTAATAAACTGTTATTAATGTATTTATCAAATTTGTATATATAAATCAAAAGTTCAAAGGTTTGATTTTATTGTTAGAAACTAATAATTTTGGTAGCATTAAATTTAATATATATTTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATTATACACACACACACAAATTT

Associated Phenotype:

Not determined