RGD:15140224 Rat Genome Database

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Variant: RGD:15140224 -  Homo sapiens

RGD ID: 15140224
RS ID: rs77547475
ClinVar ID: CV717494
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCAT  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 43,529,061
GRCh38 22 43,133,055
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000022.11:g.43133055C>A
NC_000022.10:g.43529061C>A
NR_046423.1:n.1026G>T
NM_173467.4:c.1161G>T
More... 		06/12/2018 3 prime utr variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:MCAT
Accession:NM_014507
Location:3UTRS;EXON

Gene Symbol:MCAT
Accession:NM_173467
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 387
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSVRVARVAWVRGLGASYRRGASSFPVPPPGAQGVAELLRDATGAEEEAPWAATERRMPGQCSVLLFPGQGSQVVGMGRG
LLNYPRVRELYAAARRVLGYDLLELSLHGPQETLDRTVHCQPAIFVASLAAVEKLHHLQPSVIENCVAAAGFSVGEFAAL
VFAGAMEFAEGLYAVKIRAEAMQEASEAVPSGMLSVLGQPQSKFNFACLEAREHCKSLGIENPVCEVSNYLFPDCRVISG
HQEALRFLQKNSSKFHFRRTRMLPVSGAFHTRLMEPAVEPLTQALKAVDIKKPLVSVYSNVHAHRYRHPGHIHKLLAQQL
VSPVKWEQTMHAIYERKKGRGFPQTFEVGPGRQLGAILKSCNMQAWKSYSAVDVLQTLEHVDLDPQDPPR*

Gene Symbol:MCAT
Accession:NR_046423
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000966102 CLINVAR
dbSNP (RS) rs77547475 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene MCAT CLINVAR
OMIM 614479 CLINVAR