RGD:156217415 Rat Genome Database

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Variant: RGD:156217415 -  Homo sapiens

RGD ID: 156217415
ClinVar ID: CV2386153
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASB18  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 237,146,461
GRCh38 2 236,237,818
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_053045.1:g.31528T>C
NC_000002.12:g.236237818A>G
NC_000002.11:g.237146461A>G
NM_212556.2:c.467T>C
More... 		07/13/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ASB18
Accession:NM_212556
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 156
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNSDYLPDYPLNSDLVKRLKSALDAKDEERVRDLICTEITPVDAVIELANDDWMKDPSAQLPTGMLLGDLDHLKPLMDQ
FFQDANVVFEINKDEMEWQVKSPATFGLSGLWTLEYKRELTTPLCIAAAHGHTACVRHLLGRGADPDASPGGRGAPHEAC
LGGHTACVRLLLQHRADPDLLSAEGLAPLHLCRTAASLGCAQALLEHGASVQRVGGTGRDTPLHVAAQRGLDEHARLYLG
RGAHVDARNGRGETALSAACGAARRPDEHGRCLRLCALLLRRGAEADARDEDERSPLHKACGHASHSLARLLLRHGADAG
ALDYGGASPLGRVLQTASCALQASPQRTVQALLNHGSPTVWPDAFPKVLKTCASVPAVIEVLFNSYPQLCLSESWKEVIP
EEVFQMHKPFYQSLFALALTPRCLQHLCRCALRRLFGKRCFDLIPLLPLPKPLQNYLLLEPQGVLH*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002744498 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ASB18 CLINVAR