RGD:156007240 Rat Genome Database

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Variant: RGD:156007240 -  Homo sapiens

RGD ID: 156007240
ClinVar ID: CV2289077
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KRTAP4-12  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 39,280,232
GRCh38 17 41,123,980
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.143C>T
NC_000017.11:g.41123980G>A
NC_000017.10:g.39280232G>A
NM_031854.2:c.143C>T
More... 		07/08/2022 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: P to L (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNSCCGSVCSDQGCGLENCCRPSCCQTTCCRTTCCRPSCCVSSCCRLQCCQSVCCQPTCCRPSCCQTTCCRTTCCRPSC
CVSSCCRPQCCQSVCCQPTCCRPSCCQTTCCRTTCCRPSCCVSSCCRPQCCQSVCCQPTCCRPSCCISSSCCPSCCESSC
CRPCCCLRPVCGRVSCHTTCYRPTCVISTCPRPLCCASSCC*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002865882 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene KRTAP4-12 CLINVAR