RGD:15172947 Rat Genome Database

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Variant: RGD:15172947 -  Homo sapiens

RGD ID: 15172947
RS ID: rs139584149
ClinVar ID: CV713996
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DLK1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 101,201,206
GRCh38 14 100,734,869
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016863.3:g.13005C>T
LRG_1044p1:p.Ser375=
NP_003827.4:p.Ser375=
LRG_1044t1:c.1125C>T
More... 		12/31/2019 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DLK1
Accession:NM_001317172
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTATEALLRVLLLLLAFGHSTYGAECFPACNPQNGFCEDDNVCRCQPGWQGPLCDQCVTSPGCLHGLCGEPGQCICTDGW
DGELCDRDVRACSSAPCANNRTCVSLDDGLYECSCAPGYSGKDCQKKDGPCVINGSPCQHGGTCVDDEGRASHASCLCPP
GFSGNFCEIVANSCTPNPCENDGVCTDIGGDFRCRCPAGFIDKTCSRPVTNCASSPCQNGGTCLQHTQGQAICFTILGVL
TSLVVLGTVGIVFLNKCETWVSNLRYNHMLRKKKNLLLQYNSGEDLAVNIIFPEKIDMTTFSKEAGDEEI*

Gene Symbol:DLK1
Accession:NM_003836
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 375
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTATEALLRVLLLLLAFGHSTYGAECFPACNPQNGFCEDDNVCRCQPGWQGPLCDQCVTSPGCLHGLCGEPGQCICTDGW
DGELCDRDVRACSSAPCANNRTCVSLDDGLYECSCAPGYSGKDCQKKDGPCVINGSPCQHGGTCVDDEGRASHASCLCPP
GFSGNFCEIVANSCTPNPCENDGVCTDIGGDFRCRCPAGFIDKTCSRPVTNCASSPCQNGGTCLQHTQVSYECLCKPEFT
GLTCVKKRALSPQQVTRLPSGYGLAYRLTPGVHELPVQQPEHRILKVSMKELNKKTPLLTEGQAICFTILGVLTSLVVLG
TVGIVFLNKCETWVSNLRYNHMLRKKKNLLLQYNSGEDLAVNIIFPEKIDMTTFSKEAGDEEI*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000972517 CLINVAR
dbSNP (RS) rs139584149 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene DLK1 CLINVAR
OMIM 176290 CLINVAR