RGD:156204509 Rat Genome Database

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Variant: RGD:156204509 -  Homo sapiens

RGD ID: 156204509
ClinVar ID: CV2234729
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MRGPRG  MRGPRG-AS1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 3,239,628
GRCh38 11 3,218,398
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001164377.1:c.416T>G
NC_000011.10:g.3218398A>C
NC_000011.9:g.3239628A>C
NR_027138.1:n.67A>C
More... 		08/30/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MRGPRG
Accession:NM_001164377
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFGLFGLWRTFDSVVFYLTLIVGLGGPVGNGLVLWNLGFRIKKGPFSIYLLHLAAADFLFLSCRVGFSVAQAALGAQDTL
YFVLTFLWFAVGLWLLAAFSVERCLSDLFPACYQGCRPRHASAVLCALVWTPTLPAVPPPANACGLLRNSACPLVCPRYH
VASVTWFLVLARVAWTAGVVLFVWVTCCSTRPRPRLYGIVLGALLLLFFCGLPSVFYWSLQPLLNFLLPVFSPLATLLAC
VNSSSKPLIYSGLGRQPGKREPLRSVLRRALGEGAELGARGQSLPMGLL*

Gene Symbol:MRGPRG-AS1
Accession:NR_027138
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004102670 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MRGPRG CLINVAR
  MRGPRG-AS1 CLINVAR
OMIM 607234 CLINVAR