ZMP

LOC100332088

Ensembl ID:

ENSDARG00000073771

Human Orthologue:

TBC1D12

Human Description:

TBC1 domain family, member 12 [Source:HGNC Symbol;Acc:29082]

Mouse Orthologue:

Tbc1d12

Mouse Description:

TBC1D12: TBC1 domain family, member 12 Gene [Source:MGI Symbol;Acc:MGI:2384803]

Alleles

There are 3 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa41958	Nonsense	Mutation detected in F1 DNA	Not yet available
sa41959	Nonsense	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa41958

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:

C > A

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000109305	Nonsense	88	771	2	15

Genomic Location (Zv9):

Chromosome 12 (position 6333902)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	5417423
GRCz11	12	5452380

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GAGAGAAAAGGGCCAATTACAGAGCAGCCAGGAGCATGAGGCGACGGAGT[C/A]ATGTGATGAAGTAAACCTGCCATGTGGCGCTAAGCTCCCGAATGGACACG

Long Flanking Sequence:

CTTGTTGCGCCACTGTGAATAACCATAAATTGACTTTCCCAGAATTCCCTGCATGGCACATAACTTTTTATGCATTTCCTTGACCTTAATATGGATATTTTTAGTTCTTTCCCCATCAGTTATGTACAATCGAGATTTATGATACATTTAATGTTGATAAACAGTTGATCATTGTGCAAGTGTTTTTTGAGGCCTGTGACCATGAGAGGATTTTAAATTAATTAAACCATGTTGTGTTTTAGGCTATTCACCCAGTGGCGTCCAGAAGAGCAGCGTCATCTCCGAGCATTGTGGGTATTTTGTAGATTCGCCTGTGAAGCTGATGGTGGAGTCATCTTCATCTGGAGGCAGGGGTGCTGAGGAAGGCAGACCACCTCCCCGAATCGCAGATGTTACAGACAGGCAGGAGAACATAATGCAAGGCATGTTCTCTAACAGCGGTGCATCGCAGAGAGAAAAGGGCCAATTACAGAGCAGCCAGGAGCATGAGGCGACGGAGT[C/A]ATGTGATGAAGTAAACCTGCCATGTGGCGCTAAGCTCCCGAATGGACACGCAAGCCACAATGCACCTGAGCGGGTTGCCTGCAAGTCATCCAGTCCTGCTGGAAGCTGCGTGAGTTCTGAAGATGACCATGGGATTGCAAATGGTGAACTGTTGGTGGACTCTGGAAGTGCTGGTGATGCCGTTTCTTCTGCTTTTTGCTCTGGGGAAACTCCAGATGAAGCTGGAGAAAGCTTAGAAACTCAAGCTGGAGAAACCCTAGAAGCTCTAGATCAAGCTGAGAGAAGCTCTACTGACCACTGTCTAGGTCTCCAAAGTTCAGAATGTAATGAAGGAAAGCTGCACAGACGCTCGTCAACAAGTCCTTCACCTCTGAAACACTCTCTCAGGACGTTTTCCTCCAGCACTTTCCTCAACACTGACTCTGCTTCTCTCAGTCCAAATGATGATGATGACGAGGATGAAACCTTTTCCACTTCCGATAGACCTGATGACTTAAGAT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa41959

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:

A > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000109305	Nonsense	445	771	7	15

Genomic Location (Zv9):

Chromosome 12 (position 6348018)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	12	5403307
GRCz11	12	5438264

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CAGAGCTAAAAGAGGCTCAGAAGAAGAAAAAGCAGATGAAAGAAAGGTTT[A/T]AACAGGAAGAGAGCATCGCTAACGCCATGGTGGTTTGGAACACTGAAATC

Long Flanking Sequence:

AATACAAATAAGAAAACCTGGGGATTTTAGCAGCATGTGGATACGTAATTAAATATACAATTGTAAAACAACACTGTGTAAAATTCACTGCGTAAATGGTGCCTAGAAAAATTAATAATCAATCTTTGTGAGTGCAAAAATGTGTCAGTGATCATAAATGTAAATAGAAATATTATTATTTTGAGTTGTATAGTACAATTGATCTTGAGTTTTATGATAATCGCCTCAGTTATTGACATTAATGACAATTGTAGGCCAAAAATAAACGTACAGAAAATGCCTTTATATAAACCAGACTTGTTCACAAAAGAGATTGACCCATACAGTACAATTCCACAATAATGTATCTTGCATAAGTTAGTCATTAAATGAGGAAATGATCAATTTCATGTTGTCTGGAATGCTTTTGGCCCTCTGTTTCGTTAATGTTTAATGTGCTACTTTTGTTCGCAGAGCTAAAAGAGGCTCAGAAGAAGAAAAAGCAGATGAAAGAAAGGTTT[A/T]AACAGGAAGAGAGCATCGCTAACGCCATGGTGGTTTGGAACACTGAAATCCTCCCTAACTGGGAGAGCATGTAAGATTTACCACAACCTTCCCTGATAAAGGTTATTGCACACTGAATCCGAATTTGTTGTACTAATTATTCGCCTGGAATTAATTCCAAAAAATACTAAATTAATTCGACAGTATTAACACACTTTCTAAAACTCTGAAACGTTTGTCTGTTATAAAAAAATTATAACCGGCTTCGTTTTATTATAATATTTTTTTTTCAGTTTTTCTCCACCACATAAGCGCTTTGAGAGGCATTTTGCCAGTTCAGAGCCAGTTCAGAGTGTCACTTTATGACAAACGCAGTGCATAATATAAGACAGAATGTGGTGGACATTTGAGAACCAATGTGCTGGATTCAATGACTAGCGCACCTCTCCCCTGCTGCTAAATGTGGTTTATTTATAAAATAATTTCGAGAGGATCACATGCTTATGATTGAACACAGCTGG

Associated Phenotype:

Not determined