RGD:156361234 Rat Genome Database

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Variant: RGD:156361234 -  Homo sapiens

RGD ID: 156361234
ClinVar ID: CV2326433
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OCLN  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 68,805,233
GRCh38 5 69,509,406
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001205255.1:c.-24-4542T>C
NM_001205254.2:c.316T>C
NM_001410743.1:c.316T>C
NM_002538.4:c.316T>C
More... 		12/28/2022 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OCLN
Accession:NM_001205255
Location:5UTRS;INTRON

Gene Symbol:OCLN
Accession:NM_001410743
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSRPLESPPPYRPDEFKPNHYAPSNDIYGGEMHVRPMLSQPAYSFYPEDEILHFYKWTSPPGVIRILSMLIIVMCIAIF
ACVASTLAWDRGYGTSLLGGSVGYPHGGSGFGSYGSGYGYGYGYGYGYGGYTDPRAAKGFMLAMAAFCFIAALVIFVTSV
IRSEMSRTRRYYLSVIIVSAILGIMVFIATIVYIMGVNPTAQSSGSLYGSQIYALCNQFYTPAATGLYVDQYLYHYCVVD
PQEVKNVSAGTQDVPSPPSDYVERVDSPMAYSSNGKVNDKRFYPESSYKSTPVPEVVQELPLTSPVDDFRQPRYSSGGNF
ETPSKRAPAKGRAGRSKRTEQDHYETDYTTGGESCDELEEDWIREYPPITSDQQRQLYKRNFDTGLQEYKSLQSELDEIN
KELSRLDKELDDYREESEEYMAAADEYNRLKQVKGSADYKSKKNHCKQLKSKLSHIKKMVGDYDRQKT*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSRPLESPPPYRPDEFKPNHYAPSNDIYGGEMHVRPMLSQPAYSFYPEDEILHFYKWTSPPGVIRILSMLIIVMCIAIF
ACVASTLAWDRGYGTSLLGGSVGYPHGGSGFGSYGSGYGYGYGYGYGYGGYTDPRAAKGFMLAMAAFCFIAALVIFVTSV
IRSEMSRTRRYYLSVIIVSAILGIMVFIATIVYIMGVNPTAQSSGSLYGSQIYALCNQFYTPAATGLYVDQYLYHYCVVD
PQEVKNVSAGTQDVPSPPSDYVERVDSPMAYSSNGKVNDKRFYPESSYKSTPVPEVVQELPLTSPVDDFRQPRYSSGGNF
ETPSKRAPAKGRAGRSKRTEQDHYETDYTTGGESCDELEEDWIREYPPITSDQQRQLYKRNFDTGLQEYKSLQSELDEIN
KELSRLDKELDDYREESEEYMAAADEYNRLKQVKGSADYKSKKNHCKQLKSKLSHIKKMVGDYDRQKT*

Gene Symbol:OCLN
Accession:XM_047416593
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSRPLESPPPYRPDEFKPNHYAPSNDIYGGEMHVRPMLSQPAYSFYPEDEILHFYKWTSPPGVIRILSMLIIVMCIAIF
ACVASTLAWDRGYGTSLLGGSVGYPHGGSGFGSYGSGYGYGYGYGYGYGGYTDPRAAKGFMLAMAAFCFIAALVIFVTSV
IRSEMSRTRRYYLSVIIVSAILGIMVFIATIVYIMGVNPTAQSSGSLYGSQIYALCNQFYTPAATGLYVDQYLYHYCVVD
PQEAIAIVLGFMIIVAFALIIFFAVKTRRKMDRYDKSNILWDKEHIYDEQPPNVEEWVKNVSAGTQDVPSPPSDYVERVD
SPMAYSSNGKVNDKRFYPESSYKSTPVPEVVQELPLTSPVDDFRQPRYSSGGNFETPSKRAPAKGRAGRSKRTEQDHYET
DYTTGGESCDELEEDWIREYPPITSDQQRQLYKRNFDTGLQEYKSLQSELDEINKELSRLDKELDDYREESEEYMAAADE
YNRLKQVKGSADYKSKKNHCKQLKSKLSHIKKMVGDYDRQKT*

Gene Symbol:OCLN
Accession:NM_002538
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSRPLESPPPYRPDEFKPNHYAPSNDIYGGEMHVRPMLSQPAYSFYPEDEILHFYKWTSPPGVIRILSMLIIVMCIAIF
ACVASTLAWDRGYGTSLLGGSVGYPHGGSGFGSYGSGYGYGYGYGYGYGGYTDPRAAKGFMLAMAAFCFIAALVIFVTSV
IRSEMSRTRRYYLSVIIVSAILGIMVFIATIVYIMGVNPTAQSSGSLYGSQIYALCNQFYTPAATGLYVDQYLYHYCVVD
PQEAIAIVLGFMIIVAFALIIFFAVKTRRKMDRYDKSNILWDKEHIYDEQPPNVEEWVKNVSAGTQDVPSPPSDYVERVD
SPMAYSSNGKVNDKRFYPESSYKSTPVPEVVQELPLTSPVDDFRQPRYSSGGNFETPSKRAPAKGRAGRSKRTEQDHYET
DYTTGGESCDELEEDWIREYPPITSDQQRQLYKRNFDTGLQEYKSLQSELDEINKELSRLDKELDDYREESEEYMAAADE
YNRLKQVKGSADYKSKKNHCKQLKSKLSHIKKMVGDYDRQKT*

Gene Symbol:OCLN
Accession:XM_017008913
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSRPLESPPPYRPDEFKPNHYAPSNDIYGGEMHVRPMLSQPAYSFYPEDEILHFYKWTSPPGVIRILSMLIIVMCIAIF
ACVASTLAWDRGYGTSLLGGSVGYPHGGSGFGSYGSGYGYGYGYGYGYGGYTDPRAAKGFMLAMAAFCFIAALVIFVTSV
IRSEMSRTRRYYLSVIIVSAILGIMVFIATIVYIMGVNPTAQSSGSLYGSQIYALCNQFYTPAATGLYVDQYLYHYCVVD
PQEVKNVSAGTQDVPSPPSDYVERVDSPMAYSSNGKVNDKRFYPESSYKSTPVPEVVQELPLTSPVDDFRQPRYSSGGNF
ETPSKRAPAKGRAGRSKRTEQDHYETDYTTGGESCDELEEDWIREYPPITSDQQRQLYKRNFDTGLQEYKSLQSELDEIN
KELSRLDKELDDYREESEEYMAAADEYNRLKQVKGSADYKSKKNHCKQLKSKLSHIKKMVGDYDRQKT*

Gene Symbol:OCLN
Accession:XM_047416594
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSRPLESPPPYRPDEFKPNHYAPSNDIYGGEMHVRPMLSQPAYSFYPEDEILHFYKWTSPPGVIRILSMLIIVMCIAIF
ACVASTLAWDRGYGTSLLGGSVGYPHGGSGFGSYGSGYGYGYGYGYGYGGYTDPRAAKGFMLAMAAFCFIAALVIFVTSV
IRSEMSRTRRYYLSVIIVSAILGIMVFIATIVYIMGVNPTAQSSGSLYGSQIYALCNQFYTPAATGLYVDQYLYHYCVVD
PQEAIAIVLGFMIIVAFALIIFFAVKTRRKMDRYDKSNILWDKEHIYDEQPPNVEEWVKNVSAGTQDVPSPPSDYVERVD
SPMAYSSNGKVNDKRFYPESSYKSTPVPEVVQELPLTSPVDDFRQPRYSSGGNFETPSKRAPAKGRAGRSKRTEQDHYET
DYTTGGESCDELEEDWIREYPPITSDQQRQLYKRNFDTGLQEYKSLQSELDEINKELSRLDKELDDYREESEEYMAAADE
YNRLKQVKGSADYKSKKNHCKQLKSKLSHIKKMVGDYDRQKT*

Gene Symbol:OCLN
Accession:NM_001205254
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSRPLESPPPYRPDEFKPNHYAPSNDIYGGEMHVRPMLSQPAYSFYPEDEILHFYKWTSPPGVIRILSMLIIVMCIAIF
ACVASTLAWDRGYGTSLLGGSVGYPHGGSGFGSYGSGYGYGYGYGYGYGGYTDPRAAKGFMLAMAAFCFIAALVIFVTSV
IRSEMSRTRRYYLSVIIVSAILGIMVFIATIVYIMGVNPTAQSSGSLYGSQIYALCNQFYTPAATGLYVDQYLYHYCVVD
PQEAIAIVLGFMIIVAFALIIFFAVKTRRKMDRYDKSNILWDKEHIYDEQPPNVEEWVKNVSAGTQDVPSPPSDYVERVD
SPMAYSSNGKVNDKRFYPESSYKSTPVPEVVQELPLTSPVDDFRQPRYSSGGNFETPSKRAPAKGRAGRSKRTEQDHYET
DYTTGGESCDELEEDWIREYPPITSDQQRQLYKRNFDTGLQEYKSLQSELDEINKELSRLDKELDDYREESEEYMAAADE
YNRLKQVKGSADYKSKKNHCKQLKSKLSHIKKMVGDYDRQKT*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002941375 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene OCLN CLINVAR
OMIM 602876 CLINVAR