ZMP

FRMPD2

Ensembl ID:

ENSDARG00000074119

Description:

FERM and PDZ domain containing 2 [Source:HGNC Symbol;Acc:28572]

Human Orthologue:

FRMPD2

Human Description:

FERM and PDZ domain containing 2 [Source:HGNC Symbol;Acc:28572]

Mouse Orthologue:

Gm10194

Mouse Description:

predicted gene 10194 Gene [Source:MGI Symbol;Acc:MGI:3642863]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa18532	Nonsense	Available for shipment	Available now
sa21994	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa18532

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:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000108480	Nonsense	531	921	13	22

Genomic Location (Zv9):

Chromosome 12 (position 2814756)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	2515264
GRCz11	12	2549997

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

GTGTTTGGAGAGCTTCTGCTGGGAGTCTGTGCCAAGTGCATCACTGTGTA[T/A]GAAGTTATTAATAACTGCCGCACCGCAAGCCTTACATTCCATTGGAGAGA

Long Flanking Sequence:

CAGCTAAGTGTGAACTCTTGAAAAGGTTCATATTAATACATCAAGGGTACATATTGGTACCTAAAAGTACAAAAATGTTCCTTATAAAAGGTTTAGGTACTAATATATACATTTTAGGCACCAATATGGACCCTTTAAGTACAAATTTGTACCTTTTGAAAAGGTACCACCCCAGTGACAGCTCGCGTACTTTTATTTTTGAGAGTGTAGAAACCGAGGGGTACGAAAATTTCCCAGAATTAACCAGCTACATGACTGCATATGCGAGTTTTGACACAATAAATGCTGAACAAGTATTGTTTATAAATAGTTCGGGTTATTGAATACATTAACTAGTGTAACCGTATTATAAAGTGTGACCAATCTGTCTTATAAACTTCTGTTCAGAGCGTTCAGCAGCTGCCGGAGTATGGTGTGCTGTTTCACCGCGTGGCCCGAGAGAAGAAGCCTGTGTTTGGAGAGCTTCTGCTGGGAGTCTGTGCCAAGTGCATCACTGTGTA[T/A]GAAGTTATTAATAACTGCCGCACCGCAAGCCTTACATTCCATTGGAGAGACACGAGCAGCATCACCTCAACTGTGAGTACACACACTCGAACACACTATGAGAAGACACACCTTTCTCACACACACACATTTGTAGAAAATGACTGGTAAACTATCATTAAAAGATAATGTGTGAACAGGCCTTTTTAAAAGTAATGGAAAATTAATTTTGGCTCAGTGGTTAGCACTGTCGCCTCACAGCAAGAAGGTCGCTGGTTCGACTTCTGATTGGGCCAGTTGACATTTTTGTGTGGAGTTTTACATGTTTTGTGTGGAGTTGGCATGGGTTTCCTCCGGGTGCTCCGGTTTCTTCCACAACCCAAAGACATGCGCTATATTAATTAAATCAACTAAATTGCCCGTAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTATGTGTGAGAAAGTGAGAGTGGATGGGTGTTTTTTAGTACTGGGTTG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa21994

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 > C

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000108480	Essential Splice Site	791	921	19	22

Genomic Location (Zv9):

Chromosome 12 (position 2824114)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	2524622
GRCz11	12	2559355

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

ATGCAAAGCAGCTCCAATGACGTGGAGCTCATCATTTCACAGCCCAAAGG[T/C]ACACTAGAAAAAATATGTTGCTCACTTCAATTTTTTTGTTTTTTAATTTA

Long Flanking Sequence:

CCATATAAATAGTAAAAAATTGCATAACAGTAAATTTCCATTAATTTATATTCTGTAAAGCGTAAATTGATTTTTCCAGAATTCTCTTCACAACAGTTCCCTTTTTGTTTTGTTTTTTGTTTTACATTTCTGTTTTTTTTTCCTCATCTGTGATGTACATTAGTTTTGTTACATCTAATCATGATCAATAATAGTGATTGCATTACTTTAGCATTGTGTGTTGCCATGATGGTGTTTAGTTGTTGTGAATGACACTGAGTGCCTCTTTTGTGCATTAACATGATAAGCACTGGTTCATTATAAATACAGATCTAGTACCTACTCGAGTAGTGCGCGATTTCAGACACAGCCATGGTCTGTATGTGAGTTTGATCTTCTTCAGGTGGTCGTCTGATCTCTCTGAATCAGCTCAGTCTGGAGGGCATGTCGTTTAGTGAAGCCGCTGACATCATGCAAAGCAGCTCCAATGACGTGGAGCTCATCATTTCACAGCCCAAAGG[T/C]ACACTAGAAAAAATATGTTGCTCACTTCAATTTTTTTGTTTTTTAATTTAACTTTACAAGTTAATTTAACTTGCATCAGTTAAGCTGACTTAAGCTGACTGTGGAGTCCCACGGGACTCGATTCTGGCACATCTCCTGTGCAACCTTTATATGCTGCCTCTGAGCCAAATAATGAGAAAGAACCAAATCACCTACCTCAGCTATGCTGATGACACCCAGATCTACTTAGCCTTACTGCCTAATGACTACAGCCCCATTGAAACCCTCTGCCAGTGCATTGATAAAATGAACAATTGATTGTGCCAAAACTTTCTTCAGTTAAACAAAGAGAAAACTGAAGTCATTGCGTTTGGGAACAGAGATGAGGTAGCTATTCTGCTTGTGAATGCTTAATGATGGAGTGTGTGTTTGTGAACTCCTCAGCTCAGTGCAAGCGTGGAGGATCTGTTTCTCTGAACGAGCGCAGCTACGAGTCTCAGAGCACAATCCTGGCAGACGGC

Associated Phenotype:

Not determined