RGD:8628477 Rat Genome Database

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Variant: RGD:8628477 -  Homo sapiens

RGD ID: 8628477
ClinVar ID: CV83621
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PYGB  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 25,262,705
GRCh38 20 25,282,069
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_002862.3:c.1440C>A
NC_000020.11:g.25282069C>A
NC_000020.10:g.25262705C>A
NP_002853.2:p.Phe480Leu
More... 		missense|missense variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:PYGB
Accession:XM_047440342
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 480
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKPLTDSEKRKQISVRGLAGLGDVAEVRKSFNRHLHFTLVKDRNVATPRDYFFALAHTVRDHLVGRWIRTQQHYYERDP
KRIYYLSLEFYMGRTLQNTMVNLGLQNACDEAIYQLGLDLEELEEIEEDAGLGNGGLGRLAACFLDSMATLGLAAYGYGI
RYEFGIFNQKIVNGWQVEEADDWLRYGNPWEKARPEYMLPVHFYGRVEHTPDGVKWLDTQVVLAMPYDTPVPGYKNNTVN
TMRLWSAKAPNDFKLQDFNVGDYIEAVLDRNLAENISRVLYPNDNFFEGKELRLKQEYFVVAATLQDIIRRFKSSKFGCR
DPVRTCFETFPDKVAIQLNDTHPALSIPELMRILVDVEKVDWDKAWEITKKTCAYTNHTVLPEALERWPVSMFEKLLPRH
LEIIYAINQRHLDHVAALFPGDVDRLRRMSVIEEGDCKRINMAHLCVIGSHAVNGVARIHSEIVKQSVFKDFYELEPEKL
QNKTNGITPRRWLLLCNPGLADTIVEKIGEEFLTDLSQLKKLLPLVSDEVFIRDVAKVKQENKLKFSAFLEKEYKVKINP
SSMFDVHVKRIHEYKRQLLNCLHVVTLYNRALNTGDQTQGGSCVGLFWKLRCSFSSEPRGIASLLESAAGFVHGPGWPSS
PAGNLSADLRVASLPCKWQVPGGWAGGWPVALCHCHPCLWGLKYMAERACPASGSASDAAGPQQGLVRLAVPCVSLFRVS
CRNQERPGQGFCAQDCYDWGQGSARLPHGQADHQVGHLHRRRRQS*

Gene Symbol:PYGB
Accession:NM_002862
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 480
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAKPLTDSEKRKQISVRGLAGLGDVAEVRKSFNRHLHFTLVKDRNVATPRDYFFALAHTVRDHLVGRWIRTQQHYYERDP
KRIYYLSLEFYMGRTLQNTMVNLGLQNACDEAIYQLGLDLEELEEIEEDAGLGNGGLGRLAACFLDSMATLGLAAYGYGI
RYEFGIFNQKIVNGWQVEEADDWLRYGNPWEKARPEYMLPVHFYGRVEHTPDGVKWLDTQVVLAMPYDTPVPGYKNNTVN
TMRLWSAKAPNDFKLQDFNVGDYIEAVLDRNLAENISRVLYPNDNFFEGKELRLKQEYFVVAATLQDIIRRFKSSKFGCR
DPVRTCFETFPDKVAIQLNDTHPALSIPELMRILVDVEKVDWDKAWEITKKTCAYTNHTVLPEALERWPVSMFEKLLPRH
LEIIYAINQRHLDHVAALFPGDVDRLRRMSVIEEGDCKRINMAHLCVIGSHAVNGVARIHSEIVKQSVFKDFYELEPEKL
QNKTNGITPRRWLLLCNPGLADTIVEKIGEEFLTDLSQLKKLLPLVSDEVFIRDVAKVKQENKLKFSAFLEKEYKVKINP
SSMFDVHVKRIHEYKRQLLNCLHVVTLYNRIKRDPAKAFVPRTVMIGGKAAPGYHMAKLIIKLVTSIGDVVNHDPVVGDR
LKVIFLENYRVSLAEKVIPAADLSQQISTAGTEASGTGNMKFMLNGALTIGTMDGANVEMAEEAGAENLFIFGLRVEDVE
ALDRKGYNAREYYDHLPELKQAVDQISSGFFSPKEPDCFKDIVNMLMHHDRFKVFADYEAYMQCQAQVDQLYRNPKEWTK
KVIRNIACSGKFSSDRTITEYAREIWGVEPSDLQIPPPNIPRD*
Variant Samples