RGD:150514978 Rat Genome Database

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Variant: RGD:150514978 -  Homo sapiens

RGD ID: 150514978
RS ID: rs6663608
ClinVar ID: CV1228692
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C4BPA  LOC107985251  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 207,305,069
GRCh38 1 207,131,724
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_547t1:c.1068A>C
NM_000715.4:c.1068A>C
LRG_547:g.32463A>C
NG_029579.1:g.32463A>C
More... 		06/09/2021 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:C4BPA
Accession:XM_005273251
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 356
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHPPKTPSGALHRKRKMAAWPFSRLWKVSDPILFQMTLIAALLPAVLGNCGPPPTLSFAAPMDITLTETRFKTGTTLKYT
CLPGYVRSHSTQTLTCNSDGEWVYNTFCIYKRCRHPGELRNGQVEIKTDLSFGSQIEFSCSEGFFLIGSTTSRCEVQDRG
VGWSHPLPQCEIVKCKPPPDIRNGRHSGEENFYAYGFSVTYSCDPRFSLLGHASISCTVENETIGVWRPSPPTCEKITCR
KPDVSHGEMVSGFGPIYNYKDTIVFKCQKGFVLRGSSVIHCDADSKWNPSPPACEPNSCINLPDIPHASWETYPRPTKED
VYVVGTVLRYRCHPGYKPTTDEPTTVICQKNLRWTPYQGCEALCCPEPKLNNGEITQHRKSRPANHCVYFYGDEISFSCH
ETSRFSAICQGDGTWSPRTPSCGDICNFPPKIAHGHYKQSSSYSFFKEEIIYECDKGYILVGQAKLSCSYSHWSAPAPQC
KALCRKPELVNGRLSVDKDQYVEPENVTIQCDSGYGVVGPQSITCSGNRTWYPEVPKCEWETPEGCEQVLTGKRLMQCLP
NPEDVKMALEVYKLSLEIEQLELQRDSARQSTLDKEL*

Gene Symbol:C4BPA
Accession:NM_000715
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 356
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHPPKTPSGALHRKRKMAAWPFSRLWKVSDPILFQMTLIAALLPAVLGNCGPPPTLSFAAPMDITLTETRFKTGTTLKYT
CLPGYVRSHSTQTLTCNSDGEWVYNTFCIYKRCRHPGELRNGQVEIKTDLSFGSQIEFSCSEGFFLIGSTTSRCEVQDRG
VGWSHPLPQCEIVKCKPPPDIRNGRHSGEENFYAYGFSVTYSCDPRFSLLGHASISCTVENETIGVWRPSPPTCEKITCR
KPDVSHGEMVSGFGPIYNYKDTIVFKCQKGFVLRGSSVIHCDADSKWNPSPPACEPNSCINLPDIPHASWETYPRPTKED
VYVVGTVLRYRCHPGYKPTTDEPTTVICQKNLRWTPYQGCEALCCPEPKLNNGEITQHRKSRPANHCVYFYGDEISFSCH
ETSRFSAICQGDGTWSPRTPSCGDICNFPPKIAHGHYKQSSSYSFFKEEIIYECDKGYILVGQAKLSCSYSHWSAPAPQC
KALCRKPELVNGRLSVDKDQYVEPENVTIQCDSGYGVVGPQSITCSGNRTWYPEVPKCEWETPEGCEQVLTGKRLMQCLP
NPEDVKMALEVYKLSLEIEQLELQRDSARQSTLDKEL*

Gene Symbol:C4BPA
Accession:XM_005273252
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 356
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHPPKTPSGALHRKRKMAAWPFSRLWKVSDPILFQMTLIAALLPAVLGNCGPPPTLSFAAPMDITLTETRFKTGTTLKYT
CLPGYVRSHSTQTLTCNSDGEWVYNTFCIYKRCRHPGELRNGQVEIKTDLSFGSQIEFSCSEGFFLIGSTTSRCEVQDRG
VGWSHPLPQCEIVKCKPPPDIRNGRHSGEENFYAYGFSVTYSCDPRFSLLGHASISCTVENETIGVWRPSPPTCEKITCR
KPDVSHGEMVSGFGPIYNYKDTIVFKCQKGFVLRGSSVIHCDADSKWNPSPPACEPNSCINLPDIPHASWETYPRPTKED
VYVVGTVLRYRCHPGYKPTTDEPTTVICQKNLRWTPYQGCEALCCPEPKLNNGEITQHRKSRPANHCVYFYGDEISFSCH
ETSRFSAICQGDGTWSPRTPSCGDICNFPPKIAHGHYKQSSSYSFFKEEIIYECDKGYILVGQAKLSCSYSHWSAPAPQC
KALCRKPELVNGRLSVDKDQYVEPENVTIQCDSGYGVVGPQSITCSGNRTWYPEVPKCEWETPEGCEQVLTGKRLMQCLP
NPEDVKMALEVYKLSLEIEQLELQRDSARQSTLDKEL*

Gene Symbol:LOC107985251
Accession:XR_007066843
Location:INTRON;NON-CODING

Gene Symbol:LOC107985251
Accession:XR_007066840
Location:INTRON;NON-CODING

Gene Symbol:LOC107985251
Accession:XR_007066839
Location:INTRON;NON-CODING

Gene Symbol:LOC107985251
Accession:XR_001738422
Location:INTRON;NON-CODING

Gene Symbol:LOC107985251
Accession:XR_007066837
Location:INTRON;NON-CODING

Gene Symbol:LOC107985251
Accession:XR_007066838
Location:INTRON;NON-CODING

Gene Symbol:LOC107985251
Accession:XR_007066841
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001638680 CLINVAR
dbSNP (RS) rs6663608 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene C4BPA CLINVAR
OMIM 120830 CLINVAR