RGD:156002743 Rat Genome Database

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Variant: RGD:156002743 -  Homo sapiens

RGD ID: 156002743
ClinVar ID: CV2257992
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HCAR3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 123,201,220
GRCh38 12 122,716,673
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006018.3:c.65G>A
NC_000012.12:g.122716673C>T
NC_000012.11:g.123201220C>T
NM_006018.2:c.65G>A
More... 		01/10/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HCAR3
Accession:NM_006018
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 22
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNRHHLQDHFLEIDKKNCCVFQDDFIAKVLPPVLGLEFIFGLLGNGLALWIFCFHLKSWKSSRIFLFNLAVADFLLIICL
PFVMDYYVRRSDWKFGDIPCRLVLFMFAMNRQGSIIFLTVVAVDRYFRVVHPHHALNKISNWTAAIISCLLWGITVGLTV
HLLKKKLLIQNGTANVCISFSICHTFRWHEAMFLLEFFLPLGIILFCSARIIWSLRQRQMDRHAKIKRAITFIMVVAIVF
VICFLPSVVVRIHIFWLLHTSGTQNCEVYRSVDLAFFITLSFTYMNSMLDPVVYYFSSPSFPNFFSTLINRCLQRKITGE
PDNNRSTSVELTGDPNKTRGAPEALIANSGEPWSPSYLGPTSNNHSKKGHCHQEPASLEKQLGCCIE*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002794658 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene HCAR3 CLINVAR
OMIM 606039 CLINVAR