RGD:12896889 Rat Genome Database

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Variant: RGD:12896889 -  Homo sapiens

RGD ID: 12896889
RS ID: rs62620990
ClinVar ID: CV389412
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LURAP1  POMGNT1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 46,685,792
GRCh38 1 46,220,120
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_701t1:c.-466T>C
NM_001243766.2:c.-466T>C
NC_000001.11:g.46220120A>G
NP_001013633.1:p.Gln207Arg
More... 		03/28/2016 5 prime utr variant|missense variant benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:POMGNT1
Accession:NM_001243766
Location:5UTRS;EXON

Gene Symbol:LURAP1
Accession:NM_001013615
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 207
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEGTVESQTPDLRDVEGKVGRKTPEGLLRGLRGECELGTSGALLLPGASSTGHDLGDKIMALKMELAYLRAIDVKILQQL
VTLNEGIEAVRWLLEERGTLTSHCSSLTSSQYSLTGGSPGRSRRGSWDSLPDTSTTDRLDSVSIGSFLDTVAPSELDEQG
PPGAPRSEMDWAKVIAGGERARTEVDVAATRLGSLRAVWKPPGERLRGGPPESPEDESAKLGFEAHWFWEQCQDDVTFL*

Gene Symbol:POMGNT1
Accession:NM_001290130
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_006710755
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_011541760
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_047424511
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_005271010
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_006710756
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001290129
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_017739
Location:INTRON

Gene Symbol:POMGNT1
Accession:NM_001410783
Location:INTRON

Gene Symbol:POMGNT1
Accession:XM_017001690
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24033266  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000455955 CLINVAR
dbSNP (RS) rs62620990 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LURAP1 CLINVAR
  POMGNT1 CLINVAR
OMIM 606822 CLINVAR
  616129 CLINVAR