RGD:15154288 Rat Genome Database

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Variant: RGD:15154288 -  Homo sapiens

RGD ID: 15154288
RS ID: rs35339877
ClinVar ID: CV713995
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DLK1  LOC127828633  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 101,200,921
GRCh38 14 100,734,584
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1044t1:c.840G>A
NM_003836.7:c.840G>A
LRG_1044:g.12720G>A
NG_016863.3:g.12720G>A
More... 		12/31/2019 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DLK1
Accession:NM_003836
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTATEALLRVLLLLLAFGHSTYGAECFPACNPQNGFCEDDNVCRCQPGWQGPLCDQCVTSPGCLHGLCGEPGQCICTDGW
DGELCDRDVRACSSAPCANNRTCVSLDDGLYECSCAPGYSGKDCQKKDGPCVINGSPCQHGGTCVDDEGRASHASCLCPP
GFSGNFCEIVANSCTPNPCENDGVCTDIGGDFRCRCPAGFIDKTCSRPVTNCASSPCQNGGTCLQHTQVSYECLCKPEFT
GLTCVKKRALSPQQVTRLPSGYGLAYRLTPGVHELPVQQPEHRILKVSMKELNKKTPLLTEGQAICFTILGVLTSLVVLG
TVGIVFLNKCETWVSNLRYNHMLRKKKNLLLQYNSGEDLAVNIIFPEKIDMTTFSKEAGDEEI*

Gene Symbol:DLK1
Accession:NM_001317172
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000968708 CLINVAR
dbSNP (RS) rs35339877 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DLK1 CLINVAR
OMIM 176290 CLINVAR