RGD:8691148 Rat Genome Database

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Variant: RGD:8691148 -  Homo sapiens

RGD ID: 8691148
ClinVar ID: CV141107
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PC1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 41,052,896
GRCh38 17 42,900,879
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000151.3:c.3G>A
LRG_147:g.5082G>A
NG_011808.1:g.5082G>A
NC_000017.11:g.42900879G>A
More... 		02/05/2013 missense variant benign

Variant Details
Variant Transcripts
Gene Symbol:G6PC1
Accession:NM_001270397
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
IEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLQEAVGIKLLWVAVIGDWLNLVFKWILF
GQRPYWWVLDTDYYSNTSVPLIKQFPVTCETGPGKDKADLQISVLECHFVVGILGCAAECLSVTNLPCCSFSSSSCCWSP
VRHCCCRNFQPHPQHL*

Gene Symbol:G6PC1
Accession:NM_000151
Location:EXON
Amino Acid Prediction: M to I (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
IEEGMNVLHDFGIQSTHYLQVNYQDSQDWFILVSVIADLRNAFYVLFPIWFHLQEAVGIKLLWVAVIGDWLNLVFKWILF
GQRPYWWVLDTDYYSNTSVPLIKQFPVTCETGPGSPSGHAMGTAGVYYVMVTSTLSIFQGKIKPTYRFRCLNVILWLGFW
AVQLNVCLSRIYLAAHFPHQVVAGVLSGIAVAETFSHIHSIYNASLKKYFLITFFLFSFAIGFYLLLKGLGVDLLWTLEK
AQRWCEQPEWVHIDTTPFASLLKNLGTLFGLGLALNSSMYRESCKGKLSKWLPFRLSSIVASLVLLHVFDSLKPPSQVEL
VFYVLSFCKSAVVPLASVSVIPYCLAQVLGQPHKKSL*
Variant Samples