rs777481123 Rat Genome Database

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Variant: rs777481123 -  Homo sapiens

RGD ID: 13831615
RS ID: rs777481123
ClinVar ID: CV582113
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DLL4  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 41,227,184
GRCh38 15 40,934,986
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000015.10:g.40934986C>G
NC_000015.9:g.41227184C>G
NP_061947.1:p.Pro370Arg
NM_019074.4:c.1109C>G
More... 		09/16/2018 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:DLL4
Accession:NM_019074
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 370
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAASRSASGWALLLLVALWQQRAAGSGVFQLQLQEFINERGVLASGRPCEPGCRTFFRVCLKHFQAVVSPGPCTFGTVS
TPVLGTNSFAVRDDSSGGGRNPLQLPFNFTWPGTFSLIIEAWHAPGDDLRPEALPPDALISKIAIQGSLAVGQNWLLDEQ
TSTLTRLRYSYRVICSDNYYGDNCSRLCKKRNDHFGHYVCQPDGNLSCLPGWTGEYCQQPICLSGCHEQNGYCSKPAECL
CRPGWQGRLCNECIPHNGCRHGTCSTPWQCTCDEGWGGLFCDQDLNYCTHHSPCKNGATCSNSGQRSYTCTCRPGYTGVD
CELELSECDSNPCRNGGSCKDQEDGYHCLCPPGYYGLHCEHSTLSCADSRCFNGGSCRERNQGANYACECPPNFTGSNCE
KKVDRCTSNPCANGGQCLNRGPSRMCRCRPGFTGTYCELHVSDCARNPCAHGGTCHDLENGLMCTCPAGFSGRRCEVRTS
IDACASSPCFNRATCYTDLSTDTFVCNCPYGFVGSRCEFPVGLPPSFPWVAVSLGVGLAVLLVLLGMVAVAVRQLRLRRP
DDGSREAMNNLSDFQKDNLIPAAQLKNTNQKKELEVDCGLDKSNCGKQQNHTLDYNLAPGPLGRGTMPGKFPHSDKSLGE
KAPLRLHSEKPECRISAICSPRDSMYQSVCLISEERNECVIATEV*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000722295 CLINVAR
dbSNP (RS) rs777481123 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene DLL4 CLINVAR
OMIM 605185 CLINVAR