RGD:155977159 Rat Genome Database

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Variant: RGD:155977159 -  Homo sapiens

RGD ID: 155977159
ClinVar ID: CV2266381
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HCAR2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 123,187,417
GRCh38 12 122,702,870
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_177551.4:c.414G>C
NC_000012.12:g.122702870C>G
NC_000012.11:g.123187417C>G
NM_177551.3:c.414G>C
More... 		02/17/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:HCAR2
Accession:NM_177551
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNRHHLQDHFLEIDKKNCCVFRDDFIVKVLPPVLGLEFIFGLLGNGLALWIFCFHLKSWKSSRIFLFNLAVADFLLIICL
PFLMDNYVRRWDWKFGDIPCRLMLFMLAMNRQGSIIFLTVVAVDRYFRVVHPHHALNNISNRTAAIISCLLWGITIGLTV
HLLKKKMPIQNGGANLCSSFSICHTFQWHEAMFLLEFFLPLGIILFCSARIIWSLRQRQMDRHAKIKRAITFIMVVAIVF
VICFLPSVVVRIRIFWLLHTSGTQNCEVYRSVDLAFFITLSFTYMNSMLDPVVYYFSSPSFPNFFSTLINRCLQRKMTGE
PDNNRSTSVELTGDPNKTRGAPEALMANSGEPWSPSYLGPTSP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002818241 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene HCAR2 CLINVAR
OMIM 609163 CLINVAR