RGD:12893276 Rat Genome Database

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Pathways
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Variant: RGD:12893276 -  Homo sapiens

RGD ID: 12893276
RS ID: rs1064795024
ClinVar ID: CV406783
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SIM1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 100,838,415
GRCh38 6 100,390,539
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005068.2:c.2123A>G
NG_008230.1:g.78137A>G
NC_000006.12:g.100390539T>C
NC_000006.11:g.100838415T>C
More... 		05/17/2016 missense variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:SIM1
Accession:NM_005068
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 708
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKEKSKNAARTRREKENSEFYELAKLLPLPSAITSQLDKASIIRLTTSYLKMRVVFPEGLGEAWGHSSRTSPLDNVGREL
GSHLLQTLDGFIFVVAPDGKIMYISETASVHLGLSQVELTGNSIYEYIHPADHDEMTAVLTAHQPYHSHFVQEYEIERSF
FLRMKCVLAKRNAGLTCGGYKVIHCSGYLKIRQYSLDMSPFDGCYQNVGLVAVGHSLPPSAVTEIKLHSNMFMFRASLDM
KLIFLDSRVAELTGYEPQDLIEKTLYHHVHGCDTFHLRCAHHLLLVKGQVTTKYYRFLAKHGGWVWVQSYATIVHNSRSS
RPHCIVSVNYVLTDTEYKGLQLSLDQISASKPAFSYTSSSTPTMTDNRKGAKSRLSSSKSKSRTSPYPQYSGFHTERSES
DHDSQWGGSPLTDTASPQLLDPADRPGSQHDASCAYRQFSDRSSLCYGFALDHSRLVEERHFHTQACEGGRCEAGRYFLG
TPQAGREPWWGSRAALPLTKASPESREAYENSMPHIASVHRIHGRGHWDEDSVVSSPDPGSASESGDRYRTEQYQSSPHE
PSKIETLIRATQQMIKEEENRLQLRKAPSDQLASINGAGKKHSLCFANYQQPPPTGEVCHGSALANTSPCDHIQQREGKM
LSPHENDYDNSPTALSRISSPNSDRISKSSLILAKDYLHSDISPHQTAGDHPTVSPNCFGSHRQYFDRHAYTLTGYALEH
LYDSETIRNYSLGCNGSHFDVTSHLRMQPDPAQGHKGTSVIITNGS*

Gene Symbol:SIM1
Accession:NM_001374769
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 708
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKEKSKNAARTRREKENSEFYELAKLLPLPSAITSQLDKASIIRLTTSYLKMRVVFPEGLGEAWGHSSRTSPLDNVGREL
GSHLLQTLDGFIFVVAPDGKIMYISETASVHLGLSQVELTGNSIYEYIHPADHDEMTAVLTAHQPYHSHFVQEYEIERSF
FLRMKCVLAKRNAGLTCGGYKVIHCSGYLKIRQYSLDMSPFDGCYQNVGLVAVGHSLPPSAVTEIKLHSNMFMFRASLDM
KLIFLDSRVAELTGYEPQDLIEKTLYHHVHGCDTFHLRCAHHLLLVKGQVTTKYYRFLAKHGGWVWVQSYATIVHNSRSS
RPHCIVSVNYVLTDTEYKGLQLSLDQISASKPAFSYTSSSTPTMTDNRKGAKSRLSSSKSKSRTSPYPQYSGFHTERSES
DHDSQWGGSPLTDTASPQLLDPADRPGSQHDASCAYRQFSDRSSLCYGFALDHSRLVEERHFHTQACEGGRCEAGRYFLG
TPQAGREPWWGSRAALPLTKASPESREAYENSMPHIASVHRIHGRGHWDEDSVVSSPDPGSASESGDRYRTEQYQSSPHE
PSKIETLIRATQQMIKEEENRLQLRKAPSDQLASINGAGKKHSLCFANYQQPPPTGEVCHGSALANTSPCDHIQQREGKM
LSPHENDYDNSPTALSRISSPNSDRISKSSLILAKDYLHSDISPHQTAGDHPTVSPNCFGSHRQYFDRHAYTLTGYALEH
LYDSETIRNYSLGCNGSHFDVTSHLRMQPDPAQGHKGTSVIITNGS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000478425 CLINVAR
dbSNP (RS) rs1064795024 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene SIM1 CLINVAR
OMIM 603128 CLINVAR