ZMP

ENSDARG00000074585

Ensembl ID:

ENSDARG00000074585

Human Orthologue:

PACS1

Human Description:

phosphofurin acidic cluster sorting protein 1 [Source:HGNC Symbol;Acc:30032]

Mouse Orthologue:

Pacs1

Mouse Description:

phosphofurin acidic cluster sorting protein 1 Gene [Source:MGI Symbol;Acc:MGI:1277113]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa10795	Essential Splice Site	Available for shipment	Available now
sa17470	Nonsense	Available for shipment	Available now

Mutation Details

Allele Name:

sa10795

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
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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
ENSDART00000065421	Essential Splice Site	68	883	4	31

Genomic Location (Zv9):

Chromosome 13 (position 53953332)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	51627919
GRCz11	13	51868966

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

TACGTAWATGCATGTGTGTGTGTATCTGGTTTAATGTGTSGSTTTGTGTG[T/A]GCAGGGCTCCAAACGAGTGCTGCGGTCAAAYGAGTATGCTCTTCCTCCCA

Long Flanking Sequence:

ATTTGGTTTATGAGGACACAGATTATCATGTCAGTATAGGCACAGTATAGTATAGTATAGTTTAGTATTAGTGTACCACACGTTACACACACACACACACTGTATCTGTGATGTGCTCAGTGATGGTGTTGAGCTGAATGTGTCTGAACACCGGAGACTCGTTCGTCTGAATCACTTCACTCTTGATTGACTCTCAGGACAGCAGTGGAAACACGACAGAACCTGAAGTGCAGTGAATGTAAACTGTGTGTGTGTGTGTGTGTGTGTCTCAGGCTGTGCAGTCTGACGCTGAAGAGGCTGATCGTGTTGAAGGAGCTGGATAAAGATCTGAACTCAGTGCTCATCGCTGTGAAGATTCAGGTGAGAGTCAGGAGAGTCGCTGAACAGCAAAGCTCAAGAGCGCTGTTATGGGGTCTTGTCAAGTGTGTGTGTGTGCATTTTTTTTGTGTGTACGTATATGCATGTGTGTGTGTATCTGGTTTAATGTGTGGGTTTGTGTG[T/A]GCAGGGCTCCAAACGAGTGCTGCGGTCAAACGAGTATGCTCTTCCTCCCAGTGGTGTGATGGAGACGGAGCTGGAGCTCACCTTCTCTCTGCAGGTACACACACTGACTCTGAACCAATCACAGCTCCTCTCCAGCAGCAGCGTTACAGTAAACAAACATATGTGCTTTATATATGTGCCATCACCACACTCTCAGACTTTCTGAACACTGGGTATTATTGATCAGTGACAGTCGGCAGGGTCCAGGGCTTTTTTGTTCCCATTTTCATTCATTCATTTTCCTCCAGCTTAGTCCCTTTATTATCAGGGGTCAACACCACGGAATGAACCGCCAATTATTCTAGCATATGTTTTACACAGCGAATGCCCTTCCAGTCACAATCCAGTACTGGGAAACACCCATACATACTCATTCACACACACACTCATTCACTACGGCCAGTTTAGAGGATCAGTTCCCCTATAGCGCATGTGTTTGGACTGTGGGGGAAACCGGAGCA

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa17470

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 > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000065421	Nonsense	616	883	23	31

Genomic Location (Zv9):

Chromosome 13 (position 53966327)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	13	51640914
GRCz11	13	51881354

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

CGTCATTMGACAGTAAGTTCAGCAGCATGTTCATGGAGCCATCGTGGAGG[G/T]AGCTGTTCTGCCGGCCAGAACCCCCGAACACAGGTACAGCTAATGAGTGT

Long Flanking Sequence:

CTCAATAAATCATCACAGGTGAACTTTTCAGACAGTTTCACCAATAGTTAGAACACAATAGCTCCTCCCACAGCTGTAACTGTAACGCCCAGACTCCGCCCACTGCTAAAGTGCCAGTGCGATCAGAGTGTGTGTGTGTGTGTGTGTGTAAGAATTAGTGTTTGATTGATGTGTGATGTGGCTCCTCCCACAGCTGTAACTGTAACGCCCAGACTCCGCCCACTGTTAAAGTGGCAGTGACGGGCGATCAGAGCTACCTCAGCACGGTGCTGCGCTTCTTTGTGGAGCAGCTGGCTAACAAGACGCCTGATTGGCTGAGCTACATCCGCTTTCTGATCATCCCCATCGGTGAGAGACTCGTCCAACGCTCGCTGGAGAGAATCATGAGTGCGGAGTTTGATGTGTGTGTGTGTGTTGTGGCAGGTTCTCATCCGCTGGCCAAATACATGGCGTCATTCGACAGTAAGTTCAGCAGCATGTTCATGGAGCCATCGTGGAGG[G/T]AGCTGTTCTGCCGGCCAGAACCCCCGAACACAGGTACAGCTAATGAGTGTGATGCTGATAAACAGAGGTTTTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTTTAGTTGCATCTGTCTTATTCTACACTTGTATCCCATCAGACTCGCTCATGTACAGCAGTGTGTGTGTGTTAATGTGAAGAAAGTGTTCATATTTTGTGTGTGTGTGTGTGTGTGTTTGTGTGTCTGCAGACTCTGTGGATGTAGCTGGACGGATCATCCAGTATCTGGCCGGAGCCAATGTGTGTCACCAGTTCCCCATCTCTGAGGCCATGCTGACCTACAGACAGAAGAGGTACACCTGCGCTCACACACTCCTGCACACACAGTGCTGCCGTTAGAGTTCTTCTGTGCACAATAATCTGAAGTGTGTGTGTGAAGTCAAAGATAGCTTTCCCTCTATTGGAAATAAGATAATAATACACTCACCGGCCAC

Associated Phenotype:

Not determined