RGD:15131787 Rat Genome Database

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Variant: RGD:15131787 -  Homo sapiens

RGD ID: 15131787
RS ID: rs143257814
ClinVar ID: CV734626
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LRPAP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 3,520,692
GRCh38 4 3,518,965
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_110005.2:n.461C>T
NM_002337.4:c.498C>T
NG_033873.1:g.18533C>T
NC_000004.12:g.3518965G>A
More... 		07/31/2018 non-coding transcript variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:LRPAP1
Accession:NM_002337
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPRRVRSFLRGLPALLLLLLFLGPWPAASHGGKYSREKNQPKPSPKRESGEEFRMEKLNQLWEKAQRLHLPPVRLAELH
ADLKIQERDELAWKKLKLDGLDEDGEKEARLIRNLNVILAKYGLDGKKDARQVTSNSLSGTQEDGLDDPRLEKLWHKAKT
SGKFSGEELDKLWREFLHHKEKVHEYNVLLETLSRTEEIHENVISPSDLSDIKGSVLHSRHTELKEKLRSINQGLDRLRR
VSHQGYSTEAEFEEPRVIDLWDLAQSANLTDKELEAFREELKHFEAKIEKHNHYQKQLEIAHEKLRHAESVGDGERVSRS
REKHALLEGRTKELGYTVKKHLQDLSGRISRARHNEL*

Gene Symbol:LRPAP1
Accession:NR_110005
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000897838 CLINVAR
  RCV003950502 CLINVAR
dbSNP (RS) rs143257814 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LRPAP1 CLINVAR
OMIM 104225 CLINVAR