RGD:156301276 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

Variant: RGD:156301276 -  Homo sapiens

RGD ID: 156301276
ClinVar ID: CV2104958
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCDC78  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 774,696
GRCh38 16 724,696
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_705t1:c.750C>T
LRG_705t2:c.750C>T
NM_001378033.1:c.199-187C>T
NM_001031737.3:c.750C>T
More... 		09/14/2022 intron variant likely benign Myopathy, centronuclear, 4
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CCDC78
Accession:NM_001031737
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE
AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR
LGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLK
DEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAP
GNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQ
SWNGSGHSCWSGPRWLKSNFLSYRSTWTSTWAGTSTKS*

Gene Symbol:CCDC78
Accession:XM_006720838
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 324
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQ
GEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLR
LQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAI
FDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGW
PRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKP
QHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_006720843
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE
AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR
LGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLK
DEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAP
GNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQ
VGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGA
VPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522363
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 399
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES
RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER
AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCA
WQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS
LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQSWNGSGHSCWS
GPRWLKSNFLSYRSTWTSTWAGTSTKS*

Gene Symbol:CCDC78
Accession:XM_011522361
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 399
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES
RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER
AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCA
WQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS
LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQAELERERAQLL
VRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522369
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 254
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE
AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR
LGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQL
KKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVA
YRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFS
RSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPW
KVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522368
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 268
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVQPKNTMNPENEQHRLGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQL
RQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKR
LVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDA
ASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHE
ILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522367
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 272
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSC
QGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARS
YHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQ
GLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGR
YKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522365
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 328
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVS
VQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDE
YVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGN
PQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVG
GKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVP
PAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522360
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 384
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES
RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVQPKNTMNPENEQHRLGSGLQGEVKWALEHQEARQQALVTR
VATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPA
TTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFS
HREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAE
LERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522359
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 388
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES
RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSH
PASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAG
QAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLV
TDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSP
CQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522357
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 395
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES
RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQGEVKWALEH
QEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAV
EHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLE
PLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCP
SSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522358
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 399
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES
RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER
AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCA
WQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS
LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPIL
TPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522356
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 399
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES
RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER
AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCA
WQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS
LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPIL
TPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRT
GSH*

Gene Symbol:CCDC78
Accession:XM_011522370
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE
AEIFQLKSEVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDA
CVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQL
ARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQG
GTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYV
DQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522366
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 325
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE
AEIFQLKSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQ
ILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQP
PSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVL
RLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQA
IFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKG
WPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAK
PQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522364
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 399
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES
RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER
AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCA
WQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS
LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQSWNGSGHSCWS
GPRWLKSNFLSYRSTSTKS*

Gene Symbol:CCDC78
Accession:XM_011522362
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 399
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES
RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER
AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCA
WQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS
LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQSWNGSGHSCWS
GPRWLKSNFLSYRSTWTSTWAGGQRELGVTPGPWSGWNEG*

Gene Symbol:CCDC78
Accession:XM_017022929
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 399
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES
RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER
AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCA
WQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS
LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQAELERERAQLL
VRATMAEEQLSELQEYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:NM_001378031
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE
AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR
LGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLK
DEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRGL
DAASWAQIHQKLRDFSRSTQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPA
KPQHPRTGSH*

Gene Symbol:CCDC78
Accession:NM_001378030
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 250
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE
AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR
LGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLK
DEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAP
GNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQ
AELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_047433606
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPENEQHRLGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENAR
LQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHE
ELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQK
LRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAG
AGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_047433605
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 103
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEA
ENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLS
RRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQ
IHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLR
KLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_047433604
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 226
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLESRVLELELRGDGTS
QGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPA
SPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQA
PATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTD
FSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQ
AELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_047433603
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 226
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLESRVLELELRGDGTS
QGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPA
SPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQA
PATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTD
FSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQ
AELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_047433602
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 324
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQ
GEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLR
LQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAI
FDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQAELERE
RAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:NR_165384
Location:EXON;NON-CODING

Gene Symbol:CCDC78
Accession:NR_165383
Location:EXON;NON-CODING

Gene Symbol:CCDC78
Accession:NR_165386
Location:EXON;NON-CODING

Gene Symbol:CCDC78
Accession:NR_165385
Location:EXON;NON-CODING

Gene Symbol:CCDC78
Accession:NR_165382
Location:EXON;NON-CODING

Gene Symbol:CCDC78
Accession:NM_001378033
Location:INTRON

Gene Symbol:CCDC78
Accession:XM_047433607
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002922587 CLINVAR
MedGen C4707232 CLINVAR
NCBI Gene CCDC78 CLINVAR
OMIM 614666 CLINVAR
  614807 CLINVAR