ZMP

LOC570133

Ensembl ID:

ENSDARG00000075296

Human Orthologue:

FAM83C

Human Description:

family with sequence similarity 83, member C [Source:HGNC Symbol;Acc:16121]

Mouse Orthologue:

Fam83c

Mouse Description:

family with sequence similarity 83, member C Gene [Source:MGI Symbol;Acc:MGI:1918655]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa13415	Nonsense	Available for shipment	Available now
sa33970	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa13415

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:

G > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000112146	Nonsense	215	584	2	4

Genomic Location (Zv9):

Chromosome 6 (position 52430648)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	6	52479830
GRCz11	6	52479829

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

ATATTTTACTGGAYGAGAAGAATCTCAGYCATTTCTTGAAYATGTGCTCA[G/T]AACTGGACGTCCAGAAYTCACACCTGAGTGTAAGTCAAACCCTGACGCAT

Long Flanking Sequence:

GTTTTCCCGCATCCACACTGACATGGAGCAGCAGCGCTTTAAAACCAAAACAGCCTTTTGAGCATTTTCGAAATTATCCGTATTTGGGGCTCAAAAACTCCAGGGTAGTGTGGGCGCAAGGCAAAACCATAGTTAAACTTATGCATTTTAAAATTATTAGTGTAAACGGGGCCTGAAATATCATATGGTCCTAAGCATTCAGACCCTTTTAATAAATTTAAGGGGCTCTGAATACTTTCCGTACCCACTGTACATAATAACAGTTCCACAAGCAAAGAATTATAAGCTTAAATAAAGTACAATTGCGTAAATGTTTTTTATTTAATGCATACCCTAACCCCTTTTTTTCTCAACAACAACAGGTTATCGCAATAGTCATGGACATTTTTACAGACGTGGATTTGTTCTGTGATTTAATGGAGGCCTCCAACAAGCGCAGGGTTCCAGTGTATATTTTACTGGACGAGAAGAATCTCAGTCATTTCTTGAATATGTGCTCA[G/T]AACTGGACGTCCAGAACTCACACCTGAGTGTAAGTCAAACCCTGACGCATATCTGCTCTCACTGAATGCATAATAATAAGCTTTAAGAAAAGGATCAATGAGATGGGCGTTCTTTGTTTAGCTCTTGAATACATTTGTCAGTCAACAGCATAACATAAGTCCAAAAATAAGCTCATTCAGATGAAAAGCAAGTGCTATACAAAGTTTCAAATGCATTTCCGAGGCTTTTATTAAACTTGTTTGTCATATTGGGTGTAACAACTTGAATTCTTAATTCTAGTGCAGCACAATGTATAATTTCAGAATTGATGGATGTGCAATGTTGAGTTTGTATTAGGGCTGCACTATGGTTTCAGCACAATATTGCAATGTGTGTGTCCGCAATAATCACATTGCAGTAAATGCAATGTTGAGTTAGGATTATAGTTGATCAGCACAACAGTTGAGAATATATGAGATTTGTAGAGTCATTGTAAAGTATAACCATAACAGAGTGAATC

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa33970

Status:

Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.

Availability:

Not yet available

Mutation:

G > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000112146	Essential Splice Site	266	584	4	4

Genomic Location (Zv9):

Chromosome 6 (position 52419913)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	6	52469095
GRCz11	6	52469094

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TAAAAGCTGTTTTGCAAAATATGTAACTTTCCTGTCTCTTTTCCCTTCTA[G/A]TTTTACATGGCTGTCCGGTCAGGTCCACAGCAACCTAGTAATGCACTTCT

Long Flanking Sequence:

ACTGTACTTGACCAATACATAAGAAAATGTACACACGCAACTCAAAATGAATAAATTAACAAACCCTTACTAACGGTTCAAATTTACAACCCTTTCATTATGTTCAGGGTGGTATTTGAATCAAGAATGCATGATTTTATGCCATCATGGCTTTGCAATCAAAAAATCTCATTATAATAGAAGTCAATGGGTCAAAAACGACCACTAACATAATGAAAGGGTAGTCAATTTGCCCAGAGTCCATGATTGAATTTGTAAAGATTTTCAAAGCATATATGCATCAAAATAAGACTTGTCACCAAAAATCATTCCCTTTGTTGAAACGCTGAGGAATTTGTGGTCAAATTAAACCTTAAAATCACCTCAAAGTGGATGAAAATATCCCCAACAGCATACAGAAGCATTAAAAAATGTAAAGAAAATAAATAATAGTTCTAATTTCCTGCAAAATAAAAGCTGTTTTGCAAAATATGTAACTTTCCTGTCTCTTTTCCCTTCTA[G/A]TTTTACATGGCTGTCCGGTCAGGTCCACAGCAACCTAGTAATGCACTTCTCCGGCCACCTTACAGACTGCTTCGATCGTGAATTTCGCTGCATGTATGCGGACTCGGATATAATAGAGCGCTTCCACAACCCGGATGAAGATGGACTGCCCTCTTACTCTTACTCTTACAACATGCCGGCGCCAAACTTCGGTCTGGACGTCCTGGCGGATTACGGCAGCAGAGAGCGAGTGTATTCGGAAAACTCCAGCAGCCAATCCAGCAGCAGCGTTTCCAGCATCAAAGCTGCTCCCCCAGGCACCAAATCAGTTTACAAAGTCAACCACGACAAGAAGAGCCAGGAAAATACGCAAAAAACTCCTGACAAGAAGGACGCCACGAGTCCAGTGCTCCACATGCCCTTGGCAGCCCACATCGGGAGAGGATTTCCCAATGAGATCCACCAAACTGCTGAACGTTCCTCTTTAGGTCAATCCGGCGGTGCGGAATGGTCCAAAATAG

Associated Phenotype:

Not determined