RGD:13518705 Rat Genome Database

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Variant: RGD:13518705 -  Homo sapiens

RGD ID: 13518705
RS ID: rs758028683
ClinVar ID: CV492767
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYP7B1  LOC130000507  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 65,711,113
GRCh38 8 64,798,556
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_004811.1:p.Arg11Leu
NG_008338.2:g.5236G>T
NC_000008.11:g.64798556C>A
NC_000008.10:g.65711113C>A
More... 		04/10/2017 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CYP7B1
Accession:NM_001324112
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGEVSAATGLFSLERLGLPGLALAAALLLLALCLLVRRTRRPGEPPLIKGWLPYLGVVLNLRKDPLRFMKTLQKQHGDT
FTVLLGGKYITFILDPFQYQLVIKNHKQLSFRVFSNKLLEKAFSISQLQKNHDMNDELHLCYQFLQGKSLDILLESMMQN
LKQVFEPQLLKTTSWDTAELYPFCSSIIFEITFTTIYGKVIVCDNNKFISELRDDFLKFDDKFAYLVSNIPIELLGNVKS
IREKIIKCFSSEKLAKMQGWSEVFQSRQDVLEKYYVHEDLEIGAHHLGFLWASVANTIPTMFWAMYYLLRHPEAMAAVRD
EIDRLLQSTGQKKGSGFPIHLTREQLDSLICLESSIFEALRLSSYSTTIRFVEEDLTLSSETGDYCVRKGDLVAIFPPVL
HGDPEIFEAPEQTVLTGETRGMEITELSNLYFCTAYSREKWRRERRKIHTHILVYLIILQ*

Gene Symbol:CYP7B1
Accession:NM_004820
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGEVSAATGLFSLERLGLPGLALAAALLLLALCLLVRRTRRPGEPPLIKGWLPYLGVVLNLRKDPLRFMKTLQKQHGDT
FTVLLGGKYITFILDPFQYQLVIKNHKQLSFRVFSNKLLEKAFSISQLQKNHDMNDELHLCYQFLQGKSLDILLESMMQN
LKQVFEPQLLKTTSWDTAELYPFCSSIIFEITFTTIYGKVIVCDNNKFISELRDDFLKFDDKFAYLVSNIPIELLGNVKS
IREKIIKCFSSEKLAKMQGWSEVFQSRQDVLEKYYVHEDLEIGAHHLGFLWASVANTIPTMFWAMYYLLRHPEAMAAVRD
EIDRLLQSTGQKKGSGFPIHLTREQLDSLICLESSIFEALRLSSYSTTIRFVEEDLTLSSETGDYCVRKGDLVAIFPPVL
HGDPEIFEAPEEFRYDRFIEDGKKKTTFFKRGKKLKCYLMPFGTGTSKCPGRFFALMEIKQLLVILLTYFDLEIIDDKPI
GLNYSRLLFGIQYPDSDVLFRYKVKS*

Gene Symbol:CYP7B1
Accession:XM_017014002
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000597584 CLINVAR
dbSNP (RS) rs758028683 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene CYP7B1 CLINVAR
  LOC130000507 CLINVAR
OMIM 603711 CLINVAR