ZMP

TMC8

Ensembl ID:

ENSDARG00000060545

Description:

transmembrane channel-like 8 [Source:HGNC Symbol;Acc:20474]

Human Orthologue:

TMC8

Human Description:

transmembrane channel-like 8 [Source:HGNC Symbol;Acc:20474]

Mouse Orthologue:

Tmc8

Mouse Description:

transmembrane channel-like gene family 8 Gene [Source:MGI Symbol;Acc:MGI:2669037]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa27837	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa27838	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa27837

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
ENSDART00000085448	Essential Splice Site	187	619	4	15

Genomic Location (Zv9):

Chromosome 11 (position 45854902)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	44795965
GRCz11	11	45210359

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

CTCGGCATGGTCTCCATCATCTTCCTCAGCATCATCATGCTGGTGCGCAG[G/A]TCAGATCCTCTACTGTTCTGATAATACACTGATAATTATTGATTCAAGAA

Long Flanking Sequence:

ATGCAGAATTATGGCCAGAAGTGTGAGATGTGAACTTAAAATTACATAAAAAACACAGACTTTCAAGATAAAAACTTAAACTCACTCAAACTCAGATTTGTGCATAAAAAATTATTGATATAACCGCCTACTACTTGCAATGTATAAAACCTGAATTAGCCAACAGAGGTCAGAATTGTGAGATAATGGATATAGAATTGTGCGCATATAAATAAAAGTCTGTAAATTAAAATACACAATTTTGGTCGTCAGATTTACGCATGCCAACAGGGTCAGCGTCTGATGTTATCCTGACCTCAGTTTTCAGCTCCAGCATTCTGCAGCTCTTCTTCTTCTCCTCTGCTGTGTGTGTGTTTTTAGGGTGTTCTAGAAAAGTCTGCAGTCTTCCACAGTTTCTACACTCGTGGCTCTCTCGATGGTGCCTGTTTAAACACTCCACTCCTCTTTCTGCTCGGCATGGTCTCCATCATCTTCCTCAGCATCATCATGCTGGTGCGCAG[G/A]TCAGATCCTCTACTGTTCTGATAATACACTGATAATTATTGATTCAAGAAAACATGCAGTTGTTGCTCGTGACCACTAAGTGGCGCTATAACTATAGACTATGTCACAGGTGTCAAACTCAGTTCCAAAAGCTCTGCACAGTTTAGTTCCAACCCTAATTAAACACACCTGATCAAACTAATTGAGTCCTTCAGGCTTGTTTGAAACCTACAGGTAAGTGTGTTGGAGCAGGGTTGGAAATAAACTGTGCAGAGCTTCGGCCCTCCAGGAATTGAGTTTGACACCCCTGTCATTAGATTTAGTTAAAGGCTTCATTTCTGCTAACATAATGAACCAGTATAGAAATCTAATATGTATATGGCAACATAGGATATAACGTATACACATAATTCATGTTCGGATTTCAAATTAATAAAAATATACTGAATATATTATAAATATACATACATTTCAAAATCTAACATTTTTACAATTATTGCTGCTATTATATATAATGTGTG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa27838

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:

T > G

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000085448	Essential Splice Site	187	619	4	15

Genomic Location (Zv9):

Chromosome 11 (position 45854903)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	11	44795964
GRCz11	11	45210358

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TCGGCATGGTCTCCATCATCTTCCTCAGCATCATCATGCTGGTGCGCAGG[T/G]CAGATCCTCTACTGTTCTGATAATACACTGATAATTATTGATTCAAGAAA

Long Flanking Sequence:

TGCAGAATTATGGCCAGAAGTGTGAGATGTGAACTTAAAATTACATAAAAAACACAGACTTTCAAGATAAAAACTTAAACTCACTCAAACTCAGATTTGTGCATAAAAAATTATTGATATAACCGCCTACTACTTGCAATGTATAAAACCTGAATTAGCCAACAGAGGTCAGAATTGTGAGATAATGGATATAGAATTGTGCGCATATAAATAAAAGTCTGTAAATTAAAATACACAATTTTGGTCGTCAGATTTACGCATGCCAACAGGGTCAGCGTCTGATGTTATCCTGACCTCAGTTTTCAGCTCCAGCATTCTGCAGCTCTTCTTCTTCTCCTCTGCTGTGTGTGTGTTTTTAGGGTGTTCTAGAAAAGTCTGCAGTCTTCCACAGTTTCTACACTCGTGGCTCTCTCGATGGTGCCTGTTTAAACACTCCACTCCTCTTTCTGCTCGGCATGGTCTCCATCATCTTCCTCAGCATCATCATGCTGGTGCGCAGG[T/G]CAGATCCTCTACTGTTCTGATAATACACTGATAATTATTGATTCAAGAAAACATGCAGTTGTTGCTCGTGACCACTAAGTGGCGCTATAACTATAGACTATGTCACAGGTGTCAAACTCAGTTCCAAAAGCTCTGCACAGTTTAGTTCCAACCCTAATTAAACACACCTGATCAAACTAATTGAGTCCTTCAGGCTTGTTTGAAACCTACAGGTAAGTGTGTTGGAGCAGGGTTGGAAATAAACTGTGCAGAGCTTCGGCCCTCCAGGAATTGAGTTTGACACCCCTGTCATTAGATTTAGTTAAAGGCTTCATTTCTGCTAACATAATGAACCAGTATAGAAATCTAATATGTATATGGCAACATAGGATATAACGTATACACATAATTCATGTTCGGATTTCAAATTAATAAAAATATACTGAATATATTATAAATATACATACATTTCAAAATCTAACATTTTTACAATTATTGCTGCTATTATATATAATGTGTGT

Associated Phenotype:

Not determined