RGD:15144549 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:15144549 -  Homo sapiens

RGD ID: 15144549
RS ID: rs562625664
ClinVar ID: CV693928
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCDC78  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 774,448
GRCh38 16 724,448
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001378033.1:c.260C>T
NM_001378030.1:c.827C>T
NM_001378031.1:c.827C>T
NR_165383.1:n.1030C>T
More...
12/31/2019 missense 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: A to V (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE
AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR
LGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLK
DEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAP
GNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQ
SWNGSGHSCWSGPRWLKSNFLSYRSTWTSTWAGTSTKS*

Gene Symbol:CCDC78
Accession:XM_006720838
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQ
GEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLR
LQHCAWQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAI
FDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGW
PRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKP
QHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_006720843
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE
AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR
LGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLK
DEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAP
GNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQ
VGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGA
VPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522363
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 425
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES
RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER
AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCA
WQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS
LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQSWNGSGHSCWS
GPRWLKSNFLSYRSTWTSTWAGTSTKS*

Gene Symbol:CCDC78
Accession:XM_011522361
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 425
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES
RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER
AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCA
WQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS
LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQAELERERAQLL
VRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522369
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE
AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR
LGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQL
KKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVA
YRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFS
RSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPW
KVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522368
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 294
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVQPKNTMNPENEQHRLGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQL
RQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKR
LVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDA
ASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHE
ILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522367
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 298
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSC
QGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARS
YHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQ
GLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGR
YKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522365
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 354
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVS
VQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDE
YVLRLQHCAWQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGN
PQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVG
GKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVP
PAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522360
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 410
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES
RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVQPKNTMNPENEQHRLGSGLQGEVKWALEHQEARQQALVTR
VATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPA
TTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFS
HREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAE
LERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522359
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 414
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES
RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSH
PASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAG
QAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLV
TDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSP
CQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522357
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 421
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES
RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQGEVKWALEH
QEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAV
EHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLE
PLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCP
SSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522358
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 425
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES
RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER
AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCA
WQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS
LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPIL
TPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522356
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 425
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES
RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER
AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCA
WQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS
LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPIL
TPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRT
GSH*

Gene Symbol:CCDC78
Accession:XM_011522370
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE
AEIFQLKSEVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDA
CVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQL
ARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQG
GTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYV
DQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522366
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 351
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE
AEIFQLKSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQ
ILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQP
PSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVL
RLQHCAWQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQA
IFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKG
WPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAK
PQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_011522364
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 425
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES
RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER
AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCA
WQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS
LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQSWNGSGHSCWS
GPRWLKSNFLSYRSTSTKS*

Gene Symbol:CCDC78
Accession:XM_011522362
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 425
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES
RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER
AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCA
WQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS
LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQSWNGSGHSCWS
GPRWLKSNFLSYRSTWTSTWAGGQRELGVTPGPWSGWNEG*

Gene Symbol:CCDC78
Accession:XM_017022929
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 425
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES
RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER
AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCA
WQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS
LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQAELERERAQLL
VRATMAEEQLSELQEYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:NM_001378033
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 87
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACEHADGAGQAPATTA
LRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHRE
DQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQAELERERAQLLVRATMAEEQLSELQEYVD
QHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:NM_001378031
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE
AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR
LGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLK
DEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRGL
DAASWAQIHQKLRDFSRSTQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPA
KPQHPRTGSH*

Gene Symbol:CCDC78
Accession:NM_001378030
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 276
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE
AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR
LGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLK
DEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAP
GNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQ
AELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_047433606
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 125
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPENEQHRLGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENAR
LQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHE
ELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQK
LRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAG
AGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_047433605
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEA
ENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLS
RRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQ
IHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLR
KLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_047433604
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 252
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLESRVLELELRGDGTS
QGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPA
SPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQA
PATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTD
FSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQ
AELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_047433603
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 252
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLESRVLELELRGDGTS
QGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPA
SPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQA
PATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTD
FSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQ
AELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:CCDC78
Accession:XM_047433602
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 350
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP
AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL
KSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQ
GEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLR
LQHCAWQAVEHADGAGQAPATTALRTFLEVTLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAI
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:XM_047433607
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000878237 CLINVAR
dbSNP (RS) rs562625664 CLINVAR
MedGen C4707232 CLINVAR
NCBI Gene CCDC78 CLINVAR
OMIM 614666 CLINVAR
  614807 CLINVAR