RGD:155925705 Rat Genome Database

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Variant: RGD:155925705 -  Homo sapiens

RGD ID: 155925705
ClinVar ID: CV2208009
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HCAR2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 123,187,816
GRCh38 12 122,703,269
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.15T>G
NC_000012.12:g.122703269A>C
NC_000012.11:g.123187816A>C
NM_177551.3:c.15T>G
More... 		10/27/2022 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: H to Q (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNRHQLQDHFLEIDKKNCCVFRDDFIVKVLPPVLGLEFIFGLLGNGLALWIFCFHLKSWKSSRIFLFNLAVADFLLIICL
PFLMDNYVRRWDWKFGDIPCRLMLFMLAMNRQGSIIFLTVVAVDRYFRVVHPHHALNKISNRTAAIISCLLWGITIGLTV
HLLKKKMPIQNGGANLCSSFSICHTFQWHEAMFLLEFFLPLGIILFCSARIIWSLRQRQMDRHAKIKRAITFIMVVAIVF
VICFLPSVVVRIRIFWLLHTSGTQNCEVYRSVDLAFFITLSFTYMNSMLDPVVYYFSSPSFPNFFSTLINRCLQRKMTGE
PDNNRSTSVELTGDPNKTRGAPEALMANSGEPWSPSYLGPTSP*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002683473 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene HCAR2 CLINVAR
OMIM 609163 CLINVAR