RGD:156180926 Rat Genome Database

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Variant: RGD:156180926 -  Homo sapiens

RGD ID: 156180926
ClinVar ID: CV2374803
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP4-12  LOC127886819  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 39,279,809
GRCh38 17 41,123,557
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_031854.3:c.566C>G
NG_136516.1:g.349G>C
NC_000017.11:g.41123557G>C
NC_000017.10:g.39279809G>C
More... 		07/22/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KRTAP4-12
Accession:NM_031854
Location:EXON
Amino Acid Prediction: T to S (nonsynonymous)
Amino Acid Position: 189
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNSCCGSVCSDQGCGLENCCRPSCCQTTCCRTTCCRPSCCVSSCCRPQCCQSVCCQPTCCRPSCCQTTCCRTTCCRPSC
CVSSCCRPQCCQSVCCQPTCCRPSCCQTTCCRTTCCRPSCCVSSCCRPQCCQSVCCQPTCCRPSCCISSSCCPSCCESSC
CRPCCCLRPVCGRVSCHTTCYRPTCVISSCPRPLCCASSCC*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002699377 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene KRTAP4-12 CLINVAR