RGD:15111642 Rat Genome Database

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Variant: RGD:15111642 -  Homo sapiens

RGD ID: 15111642
RS ID: rs2230922
ClinVar ID: CV719520
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDC1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 20,403,974
GRCh38 2 20,204,213
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001006946.2:c.227C>T
NP_001006947.2:p.Thr76Met
NM_001006946.1:c.227C>T
NP_001006947.1:p.Thr76Met
More... 		07/13/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SDC1
Accession:NM_001006946
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRAALWLWLCALALSLQPALPQIVATNLPPEDQDGSGDDSDNFSGSGAGALQDITLSQQTPSTWKDTQLLTAIPMSPEP
TGLEATAASTSTLPAGEGPKEGEAVVLPEVEPGLTAREQEATPRPRETTQLPTTHLASTTTATTAQEPATSHPHRDMQPG
HHETSTPAGPSQADLHTPHTEDGGPSATERAAEDGASSQLPAAEGSGEQDFTFETSGENTAVVAVEPDRRNQSPVDQGAT
GASQGLLDRKEVLGGVIAGGLVGLIFAVCLVGFMLYRMKKKDEGSYSLEEPKQANGGAYQKPTKQEEFYA*

Gene Symbol:SDC1
Accession:XM_005262622
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDEQIVATNLPPEDQDGSGDDSDNFSGSGAGALQDITLSQQTPSTWKDTQLLTAIPMSPEPTGLEATAASTSTLPAGEG
PKEGEAVVLPEVEPGLTAREQEATPRPRETTQLPTTHLASTTTATTAQEPATSHPHRDMQPGHHETSTPAGPSQADLHTP
HTEDGGPSATERAAEDGASSQLPAAEGSGEQDFTFETSGENTAVVAVEPDRRNQSPVDQGATGASQGLLDRKEVLGGVIA
GGLVGLIFAVCLVGFMLYRMKKKDEGSYSLEEPKQANGGAYQKPTKQEEFYA*

Gene Symbol:SDC1
Accession:XM_005262621
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 71
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTVYCRWAMVDCDCSLQQIVATNLPPEDQDGSGDDSDNFSGSGAGALQDITLSQQTPSTWKDTQLLTAIPMSPEPTGLEA
TAASTSTLPAGEGPKEGEAVVLPEVEPGLTAREQEATPRPRETTQLPTTHLASTTTATTAQEPATSHPHRDMQPGHHETS
TPAGPSQADLHTPHTEDGGPSATERAAEDGASSQLPAAEGSGEQDFTFETSGENTAVVAVEPDRRNQSPVDQGATGASQG
LLDRKEVLGGVIAGGLVGLIFAVCLVGFMLYRMKKKDEGSYSLEEPKQANGGAYQKPTKQEEFYA*

Gene Symbol:SDC1
Accession:XM_005262620
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQQRLVGSKCQCLAPSLPHLELSLGGGGAAGEGRAESLDESEAMIPQIVATNLPPEDQDGSGDDSDNFSGSGAGALQDIT
LSQQTPSTWKDTQLLTAIPMSPEPTGLEATAASTSTLPAGEGPKEGEAVVLPEVEPGLTAREQEATPRPRETTQLPTTHL
ASTTTATTAQEPATSHPHRDMQPGHHETSTPAGPSQADLHTPHTEDGGPSATERAAEDGASSQLPAAEGSGEQDFTFETS
GENTAVVAVEPDRRNQSPVDQGATGASQGLLDRKEVLGGVIAGGLVGLIFAVCLVGFMLYRMKKKDEGSYSLEEPKQANG
GAYQKPTKQEEFYA*

Gene Symbol:SDC1
Accession:NM_002997
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 76
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRRAALWLWLCALALSLQPALPQIVATNLPPEDQDGSGDDSDNFSGSGAGALQDITLSQQTPSTWKDTQLLTAIPMSPEP
TGLEATAASTSTLPAGEGPKEGEAVVLPEVEPGLTAREQEATPRPRETTQLPTTHLASTTTATTAQEPATSHPHRDMQPG
HHETSTPAGPSQADLHTPHTEDGGPSATERAAEDGASSQLPAAEGSGEQDFTFETSGENTAVVAVEPDRRNQSPVDQGAT
GASQGLLDRKEVLGGVIAGGLVGLIFAVCLVGFMLYRMKKKDEGSYSLEEPKQANGGAYQKPTKQEEFYA*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000894306 CLINVAR
dbSNP (RS) rs2230922 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SDC1 CLINVAR
OMIM 186355 CLINVAR