RGD:15148612 Rat Genome Database

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Variant: RGD:15148612 -  Homo sapiens

RGD ID: 15148612
RS ID: rs139761201
ClinVar ID: CV738856
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EMG1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 7,084,432
GRCh38 12 6,975,270
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001320049.2:c.471+122T>C
NM_006331.8:c.513T>C
NG_021408.2:g.9490T>C
NC_000012.12:g.6975270T>C
More... 		12/19/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:EMG1
Accession:NM_006331
Location:EXON
Amino Acid Prediction: C to C (synonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPSDGFKPRERSGGEQAQDWDALPPKRPRLGAGNKIGGRRLIVVLEGASLETVKVGKTYELLNCDKHKSILLKNGRDP
GEARPDITHQSLLMLMDSPLNRAGLLQVYIHTQKNVLIEVNPQTRIPRTFDRFCGLMVQLLHKLSVRAADGPQKLLKVIK
NPVSDHFPVGCMKVGTSFSIPVVSDVRELVPSSDPIVFVVGAFAHGKVSVEYTEKMVSISNYPLSAALTCAKLTTAFEEV
WGVI*

Gene Symbol:EMG1
Accession:NR_135131
Location:EXON;NON-CODING

Gene Symbol:EMG1
Accession:NM_001320049
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000900756 CLINVAR
dbSNP (RS) rs139761201 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EMG1 CLINVAR
OMIM 611531 CLINVAR