Version: 8.0.0Date: Tue Jan 28 2025
Category
Ccdc103
(Mus musculus)Gene
Name: coiled-coil domain containing 103
Synonyms: 1700039D13Rik, RIKEN cDNA 1700039D13 gene, RGD1562370
Source: MGI:1920543
Biotype: protein coding gene
Symbol: Ccdc103 (Mmu)
Symbol: Ccdc103
Alleles: Ccdc103
Ccdc103em3H
(Mus musculus)Allele/Variant
Source: MGI:6157675
Genes: Ccdc103 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Ccdc103
Genes: Ccdc103 (Mmu)
Symbol: Ccdc103em3H
Ccdc103em4(IMPC)H
(Mus musculus)Allele/Variant
Source: MGI:6355922
Genes: Ccdc103 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Ccdc103
Genes: Ccdc103 (Mmu)
Symbol: Ccdc103em4(IMPC)H
Ccdc103em2H
(Mus musculus)Allele/Variant
Source: MGI:6157673
Genes: Ccdc103 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Ccdc103
Genes: Ccdc103 (Mmu)
Symbol: Ccdc103em2H
Ccdc103em1H
(Mus musculus)Allele/Variant
Source: MGI:6157670
Genes: Ccdc103 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Symbol: Ccdc103
Genes: Ccdc103 (Mmu)
Symbol: Ccdc103em1H
Model
Id: MGI:6771953
Synonyms: Not Available
Symbol: Ccdc103/Ccdc103<+> [background:] C57BL/6N-Ccdc103/H (Mmu)
Genes: Ccdc103 (Mmu)
Alleles: Ccdc103
Name: Ccdc103/Ccdc103<+> [background:] C57BL/6N-Ccdc103/H
Id: MGI:7471918
Synonyms: Not Available
Symbol: Ccdc103/Ccdc103 [background:] C57BL/6N-Ccdc103/H (Mmu)
Genes: Ccdc103 (Mmu)
Alleles: Ccdc103
Name: Ccdc103/Ccdc103 [background:] C57BL/6N-Ccdc103/H
dnaaf19
(Danio rerio)Gene
Name: dynein axonemal assembly factor 19
Synonyms: ccdc103, zgc:100838, smh
Source: ZFIN:ZDB-GENE-040718-253
Biotype: protein coding gene
Synonyms: ccdc103...ccdc103...ccdc103
Strict Orthology Symbols: Ccdc103
DNAAF19
(Homo sapiens)Gene
Name: dynein axonemal assembly factor 19
Synonyms: PR46b, FLJ34211, CCDC103, CILD17, FLJ13094, coiled-coil domain containing 103, coiled-coil domain-containing protein 103, SMH
Source: HGNC:32700
Biotype: protein coding gene
Synonyms: CCDC103...CCDC103
Strict Orthology Symbols: Ccdc103
dnaaf19.L
(Xenopus laevis)Gene
Name: dynein axonemal assembly factor 19
Synonyms: dnaaf19.L, dynein axonemal assembly factor 19, ccdc103
Source: Xenbase:XB-GENE-922061
Biotype: gene
Synonyms: ccdc103...ccdc103...ccdc103
dnaaf19
(Xenopus tropicalis)Gene
Name: dynein axonemal assembly factor 19
Synonyms: ccdc103, dynein axonemal assembly factor 19, dnaaf19
Source: Xenbase:XB-GENE-922050
Biotype: gene
Synonyms: ccdc103...ccdc103...ccdc103
Strict Orthology Symbols: Ccdc103
Dnaaf19
(Rattus norvegicus)Gene
Name: dynein axonemal assembly factor 19
Synonyms: Ccdc103, LOC498006, coiled-coil domain containing 103, RGD1562370, coiled-coil domain-containing protein 103
Source: RGD:1562370
Biotype: protein coding gene
Gene Synopsis: Orthologous to human CCDC103 (coiled-coil domain containing 103); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine
Synonyms: Ccdc103...Ccdc103
Strict Orthology Symbols: Ccdc103
CG13202
(Drosophila melanogaster)Gene
Name: Not Available
Synonyms: Not Available
Source: FB:FBgn0033623
Biotype: protein coding gene
Strict Orthology Symbols: Ccdc103
Source: DOID:0110621
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21.
Genes: Ccdc103 (Mmu)
dnaaf19_unspecified
(Danio rerio)Allele/Variant
Source: ZFIN:ZDB-ALT-080108-2
Genes: dnaaf19 (Dre)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Not Available
Variant Name: Not Available
Gene Synonyms: ccdc103
tn222a
(Danio rerio)Allele/Variant
Source: ZFIN:ZDB-ALT-980203-1054
Genes: dnaaf19 (Dre)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: primary ciliary dyskinesia
Variant Name: Not Available
Gene Synonyms: ccdc103
Source: GO:0071907
Synonyms:
- determination of gut left/right asymmetry
- determination of left/right asymmetry of the digestive tract
Branch: biological process
Genes: Ccdc103 (Mmu)
Gene Ontology
Source: GO:0036157
Synonyms:
- outer dynein arm complex
Branch: cellular component
Genes: Ccdc103 (Mmu)
Gene Ontology
Source: GO:0036159
Synonyms:
- IDA assembly
Branch: biological process
Genes: Ccdc103 (Mmu)
Gene Ontology
Source: GO:0070286
Synonyms:
- dynein arm assembly
Branch: biological process
Genes: Ccdc103 (Mmu)
Gene Ontology
Source: GO:0036158
Synonyms:
- ODA assembly
Branch: biological process
Genes: Ccdc103 (Mmu)
Source: GO:0003351
Synonyms:
- cilium movement involved in fluid flow
- epithelial cilium beating
Branch: biological process
Genes: Ccdc103 (Mmu)
Gene Ontology
Source: GO:0003341
Synonyms:
- ciliary motility
- cilium beating
Branch: biological process
Genes: Ccdc103 (Mmu)
Disease
Source: DOID:9562
Definition: A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.
Genes: Ccdc103 (Mmu)
Gene Ontology
Source: GO:0001947
Synonyms:
- cardiac looping
Branch: biological process
Genes: Ccdc103 (Mmu)
Gene Ontology
Source: GO:0007368
Synonyms:
- determination of left/right asymmetry
Branch: biological process
Genes: Ccdc103 (Mmu)
Gene Ontology
Source: GO:0031514
Synonyms:
- microtubule-based flagellum
- motile cilia
Branch: cellular component
Genes: Ccdc103 (Mmu)
(GRCh38)17:44901003A>G
(Homo sapiens)Allele/Variant
Source: rs890129325
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44901003A>G
Gene Synonyms: CCDC103
(GRCh38)17:44901522G>A
(Homo sapiens)Allele/Variant
Source: rs148724732
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, missense_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44901522G>A
Gene Synonyms: CCDC103
(GRCh38)17:44901658T>C
(Homo sapiens)Allele/Variant
Source: rs74349463
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44901658T>C
Gene Synonyms: CCDC103
(GRCh38)17:44901670C>T
(Homo sapiens)Allele/Variant
Source: rs2051551028
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44901670C>T
Gene Synonyms: CCDC103
(GRCh38)17:44902549A>C
(Homo sapiens)Allele/Variant
Source: rs145457535
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44902549A>C
Gene Synonyms: CCDC103
(GRCh38)17:44901186T>C
(Homo sapiens)Allele/Variant
Source: rs7222312
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44901186T>C
Gene Synonyms: CCDC103
(GRCh38)17:44901519G>A
(Homo sapiens)Allele/Variant
Source: rs747091524
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_acceptor_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44901519G>A
Gene Synonyms: CCDC103
(GRCh38)17:44901640T>G
(Homo sapiens)Allele/Variant
Source: rs746143004
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44901640T>G
Gene Synonyms: CCDC103
(GRCh38)17:44899858G>A
(Homo sapiens)Allele/Variant
Source: rs886053013
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, 5_prime_UTR_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44899858G>A
Gene Synonyms: CCDC103
(GRCh38)17:44901664C>T
(Homo sapiens)Allele/Variant
Source: rs111976352
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44901664C>T
Gene Synonyms: CCDC103
(GRCh38)17:44902558C>T
(Homo sapiens)Allele/Variant
Source: rs1159140845
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44902558C>T
Gene Synonyms: CCDC103
(GRCh38)17:44902659T>C
(Homo sapiens)Allele/Variant
Source: rs2051580311
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44902659T>C
Gene Synonyms: CCDC103
(GRCh38)17:44901006G>A
(Homo sapiens)Allele/Variant
Source: rs886053014
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44901006G>A
Gene Synonyms: CCDC103
(GRCh38)17:44901057T>C
(Homo sapiens)Allele/Variant
Source: rs2145607592
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44901057T>C
Gene Synonyms: CCDC103
(GRCh38)17:44901102G>C
(Homo sapiens)Allele/Variant
Source: rs587783065
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44901102G>C
Gene Synonyms: CCDC103
(GRCh38)17:44901546A>G
(Homo sapiens)Allele/Variant
Source: rs1254933483
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44901546A>G
Gene Synonyms: CCDC103
(GRCh38)17:44901505G>A
(Homo sapiens)Allele/Variant
Source: rs748748516
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44901505G>A
Gene Synonyms: CCDC103
(GRCh38)17:44901622C>A
(Homo sapiens)Allele/Variant
Source: NC_000017.11:g.44901622C>A
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44901622C>A
Gene Synonyms: CCDC103
(GRCh38)17:44902409T>C
(Homo sapiens)Allele/Variant
Source: NC_000017.11:g.44902409T>C
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: 3_prime_UTR_variant, synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44902409T>C
Gene Synonyms: CCDC103
(GRCh38)17:44902561C>T
(Homo sapiens)Allele/Variant
Source: rs148834205
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44902561C>T
Gene Synonyms: CCDC103
(GRCh38)17:44902805C>T
(Homo sapiens)Allele/Variant
Source: rs1342819699
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: synonymous_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44902805C>T
Gene Synonyms: CCDC103
(GRCh38)17:44901656G>A
(Homo sapiens)Allele/Variant
Source: rs373891184
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: splice_region_variant, intron_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44901656G>A
Gene Synonyms: CCDC103
(GRCh38)17:44902600C>T
(Homo sapiens)Allele/Variant
Source: rs756958260
Genes: DNAAF19 (Hsa), FAM187A (Hsa)
Synonyms: Not Available
Variant Type: SNP
Molecular Consequence: missense_variant
Diseases: Not Available
Variant Name: (GRCh38)17:44902600C>T
Gene Synonyms: CCDC103