RGD:15161303 Rat Genome Database

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Variant: RGD:15161303 -  Homo sapiens

RGD ID: 15161303
RS ID: rs34429112
ClinVar ID: CV725553
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DLK1  LOC127828633  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 101,200,684
GRCh38 14 100,734,347
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003836.6:c.603C>T
NM_001317172.2:c.603C>T
NC_000014.9:g.100734347C>T
NC_000014.8:g.101200684C>T
More... 		12/31/2019 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DLK1
Accession:NM_003836
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTATEALLRVLLLLLAFGHSTYGAECFPACNPQNGFCEDDNVCRCQPGWQGPLCDQCVTSPGCLHGLCGEPGQCICTDGW
DGELCDRDVRACSSAPCANNRTCVSLDDGLYECSCAPGYSGKDCQKKDGPCVINGSPCQHGGTCVDDEGRASHASCLCPP
GFSGNFCEIVANSCTPNPCENDGVCTDIGGDFRCRCPAGFIDKTCSRPVTNCASSPCQNGGTCLQHTQVSYECLCKPEFT
GLTCVKKRALSPQQVTRLPSGYGLAYRLTPGVHELPVQQPEHRILKVSMKELNKKTPLLTEGQAICFTILGVLTSLVVLG
TVGIVFLNKCETWVSNLRYNHMLRKKKNLLLQYNSGEDLAVNIIFPEKIDMTTFSKEAGDEEI*

Gene Symbol:DLK1
Accession:NM_001317172
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTATEALLRVLLLLLAFGHSTYGAECFPACNPQNGFCEDDNVCRCQPGWQGPLCDQCVTSPGCLHGLCGEPGQCICTDGW
DGELCDRDVRACSSAPCANNRTCVSLDDGLYECSCAPGYSGKDCQKKDGPCVINGSPCQHGGTCVDDEGRASHASCLCPP
GFSGNFCEIVANSCTPNPCENDGVCTDIGGDFRCRCPAGFIDKTCSRPVTNCASSPCQNGGTCLQHTQGQAICFTILGVL
TSLVVLGTVGIVFLNKCETWVSNLRYNHMLRKKKNLLLQYNSGEDLAVNIIFPEKIDMTTFSKEAGDEEI*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000881547 CLINVAR
  RCV003920545 CLINVAR
dbSNP (RS) rs34429112 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DLK1 CLINVAR
OMIM 176290 CLINVAR