RGD:405283283 Rat Genome Database

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Variant: RGD:405283283 - Homo sapiens

RGD ID:

405283283

ClinVar ID:

CV3217081

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CCDC78

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	16	775,252
GRCh38	16	725,252

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_001364962.1:p.His8= LRG_705t1:c.477C>T LRG_705t2:c.477C>T NM_001378033.1:c.24C>T More...	04/29/2019	non-coding transcript variant	likely benign	CCDC78-related condition

Variant Details

Variant Transcripts

Gene Symbol:	CCDC78
Accession:	XM_006720838
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	233

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQ GEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLR LQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAI FDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGW PRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKP QHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_011522368
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	177

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVQPKNTMNPENEQHRLGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQL RQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKR LVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDA ASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHE ILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_011522357
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	304

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGLQGEVKWALEH QEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAV EHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLE PLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCP SSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_011522362
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	304

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCA WQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQSWNGSGHSCWS GPRWLKSNFLSYRSTWTSTWAGGQRELGVTPGPWSGWNEG*

Gene Symbol:	CCDC78
Accession:	NM_001378030
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	159

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR LGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLK DEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAP GNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQ AELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	NM_001031737
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	159

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR LGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLK DEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAP GNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQ SWNGSGHSCWSGPRWLKSNFLSYRSTWTSTWAGTSTKS*

Gene Symbol:	CCDC78
Accession:	XM_011522369
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	159

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR LGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQL KKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVA YRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFS RSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPW KVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_047433603
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLESRVLELELRGDGTS QGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPA SPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQA PATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTD FSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQ AELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_011522367
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	177

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSC QGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARS YHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQ GLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGR YKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_017022929
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	304

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:	H to H (synonymous)
Amino Acid Position:	159

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR LGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLK DEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRGL DAASWAQIHQKLRDFSRSTQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPA KPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	NM_001378033
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	8

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACEHADGAGQAPATTA LRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHRE DQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQAELERERAQLLVRATMAEEQLSELQEYVD QHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_011522361
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	304

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCA WQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQAELERERAQLL VRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_011522360
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	293

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:	H to H (synonymous)
Amino Acid Position:	293

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVQPKNTMNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSH PASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAG QAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLV TDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSP CQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_011522358
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	304

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCA WQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPIL TPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_047433606
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	8

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNPENEQHRLGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENAR LQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHE ELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQK LRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAG AGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_047433605
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	8

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNPENEQHRLGSGVSVQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEA ENARLQLQLKKLKDEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLS RRHEELLVAYRAPGNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQ IHQKLRDFSRSTQVGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLR KLAGAGDPWKVGAVPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_006720843
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	159

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHR LGSGLQGEVKWALEHQEARQQALVTRVATLGRQLQGAREEARAAGQRLATQAVVLCSCQGQLRQAEAENARLQLQLKKLK DEYVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAP GNPQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQ VGGKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGA VPPAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_011522370
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	103

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:	H to H (synonymous)
Amino Acid Position:	230

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE AEIFQLKSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQ ILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQP PSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVL RLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQA IFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKG WPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAK PQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_047433607
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	148

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHE AEIFQLKSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVQPKNTMNPENEQHRLGSGVSVQPPS SGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVSGHLTWGPILEQREPLIVGLLSLTPVSSGQPWA GSCREPERRPGQPGSDWPHRLW*

Gene Symbol:	CCDC78
Accession:	XM_011522365
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	233

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEILRLESRVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVS VQPPSSGERAAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDE YVLRLQHCAWQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGN PQAIFDIASLDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVG GKGWPRPILTPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVP PAKPQHPRTGSH*

Gene Symbol:	CCDC78
Accession:	XM_011522364
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	304

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCA WQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQSWNGSGHSCWS GPRWLKSNFLSYRSTSTKS*

Gene Symbol:	CCDC78
Accession:	XM_011522356
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	304

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCA WQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQVGGKGWPRPIL TPCPSSWLTSPCQAELERERAQLLVRATMAEEQLSELQEYVDQHLGRYKHEILRLRKLAGAGDPWKVGAVPPAKPQHPRT GSH*

Gene Symbol:	CCDC78
Accession:	XM_011522363
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	304

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEHAATTGPRPGPPSRRVENVSPLGLAAPAMGLKSARSPKGQEGAGSCTLGLISARRGTFTAQPGREAGLVTAWEWGHSP AWDPPGEWVAVPPQVVLRAKDWLPGAPGGTAVWATSLEAEVPPDLALNKEQQLQISKELVDIQITTHHLHEQHEAEIFQL KSEVSSRVNQPQCMGDGGCRPRTRALHGHAHAHGICGSQPASECCAPLSVHRVNVHLPQVARGQVHLLMPVVPQILRLES RVLELELRGDGTSQGCAVPVESDPRHPRAAAQELRHKAQVPGHSDDHRFQVQPKNTMNPENEQHRLGSGVSVQPPSSGER AAPETPSLGSHPASPVCPTAAGGSEVGAGASGGPAAGTGDACVLCSCQGQLRQAEAENARLQLQLKKLKDEYVLRLQHCA WQAVEHADGAGQAPATTALRTFLEATLEDIRAAHRSREQQLARAARSYHKRLVDLSRRHEELLVAYRAPGNPQAIFDIAS LDLEPLPVPLVTDFSHREDQHGGPGALLSSPKKRPGGASQGGTSEPQGLDAASWAQIHQKLRDFSRSTQSWNGSGHSCWS GPRWLKSNFLSYRSTWTSTWAGTSTKS*

Gene Symbol:	CCDC78
Accession:	XM_047433604
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	131

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:	H to H (synonymous)
Amino Acid Position:	233

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_165385
Location:	EXON;NON-CODING

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

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV003979205	CLINVAR
NCBI Gene	CCDC78	CLINVAR
OMIM	614666	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:405283283 - Homo sapiens