ZMP

GPHN (2 of 2)

Ensembl ID:

ENSDARG00000089076

Description:

gephyrin [Source:HGNC Symbol;Acc:15465]

Human Orthologue:

GPHN

Human Description:

gephyrin [Source:HGNC Symbol;Acc:15465]

Mouse Orthologue:

Gphn

Mouse Description:

gephyrin Gene [Source:MGI Symbol;Acc:MGI:109602]

Alleles

There are 2 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa36467	Essential Splice Site	Mutation detected in F1 DNA	Not yet available
sa42972	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa36467

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 > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000127692	Essential Splice Site	299	844	9	34

Genomic Location (Zv9):

Chromosome 17 (position 34315331)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	34157062
GRCz11	17	34109573

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GCCCACATCAACACCCACGTTCAACATCAACCAGTTATAGATATTCAATG[T/A]GATTTTTGTTGACTTGCAGCATTACTTTTACAACATGTTCAAAATCATGC

Long Flanking Sequence:

ACCGTTTTAAACACTGTATTCTTACAGATTTAAGCCTTAGCTGGATACTTCACTTCACTTAGAGCTGTGTTACACACTACATGGAGGGGAATTTTCAAAAACCCATAATATGGGCTCTTTAATGCTCATTTTATAAGCAGTTTCTTAAGTATTTTGACTTGTGTGTAAAAAAAATTCCCCCCTGTTCATTATGTATTTTGCCCTTGATGCTCCATTCATGTTTTTGTTTGCGCACATGTGAAGTCTTTTGTCATGTTTATATGTGTCATGTTAATCATCAGAGCATGACGTCTCATCTCAGCCATGCAGTGGTCATGGCCAAGGGTGGGCAACCATTGAGTGGCTTCATCCCTTCCACCTCCATTCCCTCCCATTTCACCTGCTCCTGCAGCGACACGGTAAGGCACACCGAAATCCCCATTCACATTCACCTCTCCTGCTCTTCCACCAGCCCACATCAACACCCACGTTCAACATCAACCAGTTATAGATATTCAATG[T/A]GATTTTTGTTGACTTGCAGCATTACTTTTACAACATGTTCAAAATCATGCAACCCAACAAGCCAATGAATAAATACTAAACTTCATTAACATTATTAAAAGAACATGCTCAATGACCGATGTCTGCCATTTATTTTTTAACTTTATGCTTGCTAGTTATTTTATTTCCAACGTCAAGCCTAAAGGACTCAATTAGTTTGATCAGGTGTTTAATTAGGGTTGGAACTAAACTGTGCAGAGCTCCAGCCCTCCAGGAGCTAGCTTTGACACCTGTTGACACAATTTTAACATTTTTGGCCCTATCAACCAACACAATGGATTTTAAATTAAATGAAAATGTGCTTTAACTGCAGACTGTCAGCTTTAATTTGAGGGTATTTGCATCCAAATTAGGTGAACGCTATAGGAATTACAACAGTTTGCATATGTGCTTCCCACTTGTTAAGGGTCCAAAAGTTATTGGACAATCGGCTTCTGAGCTGTTTCATGTCCAGATGTGTG

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa42972

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:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000127692	Essential Splice Site	654	844	29	34

Genomic Location (Zv9):

Chromosome 17 (position 34334506)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	17	34219430
GRCz11	17	34167376

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TAATGTACCAAGTAGAAAATGGAAGTAATTTAGCATGACGGTGTTTTTTA[A/T]TTCTCCCCCTGCAGCCCAGACGACCTGCTGAATGCCCTGAACGAGGGCAT

Long Flanking Sequence:

TTTGGTTCCCTGATTAACCATACTTTAAGGCTTATTTATTAATCCTTGCCTGGTCAAACTCGCATGAACCTTCAGAAATAAAAATGTTGATCGGCAACTTATCAAAACATTAAATAGACAATCATATTTGCCAACATTCCTGTTTTTCCTGGCAGTCTCCCGTATTTCAGACCCATCTTCTGCCCATCTCTTGTATTGTTCAGTCTCATGGAAAACTCCCGGAATTCACAGCACCACCCACCCAACCAACCCCCCTATGCCCCACAACCCCGCTCCACAGCTTTTTGATTCAGTCCCCATGCGCACTGAACCCAACGCGCTACCATACCTGCTCCCCGCTCTTCTTTTCGCGCACACCTCCCACCCCGCTCAATGCAGCTTACATTAAATTTGTGCTAGTGATAGTGTAAGCAAACATTTCACTTTTTTTGTACTTTACCAGTATTACAGTAATGTACCAAGTAGAAAATGGAAGTAATTTAGCATGACGGTGTTTTTTA[A/T]TTCTCCCCCTGCAGCCCAGACGACCTGCTGAATGCCCTGAACGAGGGCATTAGTCGCGCTGACGTCATCATCACCTCTGGGGGCGTGTCCATGGGTGAGAAGGTCAGTTTGATTGGCTGTCTGGAAAATTATTTAAACATTACAGCATTCATACAATGATTAATTATTTTCCCCCTTTACAATGTATACAACACAACATGTATATAGCACAAAAACCTTACAAATATACGCTGCACAATACAAATAAAACTAATTTTAATATGAATTTTAGCAAATAAACACCCTTAATGTGTTTATGCCTTTATTAAGATTTTCTTGGTGATTACTTATACCGTTTCATTTAGGGAAACTTCTGAGATAAATAAGTTATCTCTCTAAACTTTTATAATAAATCTATATAAGATGCTGTTCTTCCTATCTCTTTTATTCACACTGCAAAAAATGGTTTTCTTAGATTTTTTTGTCTGGTTTCTAGTCCAAATATGTAAAAAGTCTTATAT

Associated Phenotype:

Not determined