fgfr4

Ensembl ID:
ENSDARG00000069105
ZFIN ID:
ZDB-GENE-980526-488
Description:
Fibroblast growth factor receptor 4 [Source:UniProtKB/Swiss-Prot;Acc:Q90413]
Human Orthologue:
FGFR4
Human Description:
fibroblast growth factor receptor 4 [Source:HGNC Symbol;Acc:3691]
Mouse Orthologue:
Fgfr4
Mouse Description:
fibroblast growth factor receptor 4 Gene [Source:MGI Symbol;Acc:MGI:95525]

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
hu3514 Nonsense Available for shipment Available now
sa24005 Nonsense Mutation detected in F1 DNA During 2016
sa6682 Nonsense Mutation detected in F1 DNA During 2016
sa24004 Essential Splice Site Available for shipment Available now
sa37357 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
hu3514
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000100286 Nonsense 43 922 3 20
Genomic Location (Zv9):
Chromosome 21 (position 36516834)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 37506183
KASP Assay ID:
554-0053.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTACTCCAGCAGATATCAGAGTTTCACGACACATACTTACTCCTGGATA[T/A]CCTGAGAATGCTACTGTGTTGGTCGGAGGACATGTGAAGCTGGTGTGTAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24005
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000100286 Nonsense 173 922 5 20
Genomic Location (Zv9):
Chromosome 21 (position 36516140)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 37505489
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGATGTACTTAAACTCCGTTGTGACACAAACCGTCCTGGAGCTGTCCAGT[G/A]GTTCAAGAGTGGTGTTCGGGTGCAACACAATGCCCGTATCCAGATAAGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6682
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000100286 Nonsense 405 922 9 20
Genomic Location (Zv9):
Chromosome 21 (position 36514493)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 37503842
KASP Assay ID:
554-5175.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CAGCCTCACATCCAGTGGCTCAAGCRTATAGAAATGAATGGCAGCCGTTA[T/A]GGGCCTGATGGCATTCCTTATGTGAAGATTGTGAAGGTATATAGGAAATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24004
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000100286 Essential Splice Site 577 922 13 20
Genomic Location (Zv9):
Chromosome 21 (position 36513599)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 37502948
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCATTTCATGTAATGGTGAACTAACTAGTTATTTAAATTCTCTCATGCCA[G/A]TTTGACTTTAGGGAAACCGCTTGGAGAGGGTTGCTTTGGTCAAGTGGTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37357
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000100286 Nonsense 784 922 18 20
Genomic Location (Zv9):
Chromosome 21 (position 36511667)
Other Location(s):
Assembly Chromosome Position
GRCz10 21 37501016
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATTATCCTACATAGTCTCCTGACATATTTGACCTCTGGTTTTCACAGATG[G/A]TCTTTCGGGGTTTTGATGTGGGAGATATTCACATTGGGAGGATCGCCGTA
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Prothrombin time: Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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