RGD:14397000 Rat Genome Database

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Variant: RGD:14397000 -  Homo sapiens

RGD ID: 14397000
RS ID: rs1335411387
ClinVar ID: CV612655
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATRIP  ATRIP  LOC127397370  TREX1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 48,508,086
GRCh38 3 48,466,687
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_033629.6:c.32T>G
NG_009820.2:g.5858T>G
NC_000003.12:g.48466687T>G
NR_153405.1:n.3341T>G
More... 		09/30/2018 3 prime utr variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ATRIP
Accession:NM_001271023
Location:3UTRS;EXON

Gene Symbol:ATRIP
Accession:NM_032166
Location:3UTRS;EXON

Gene Symbol:ATRIP
Accession:NM_001271022
Location:3UTRS;EXON

Gene Symbol:ATRIP
Accession:NM_130384
Location:3UTRS;EXON

Gene Symbol:TREX1
Accession:NM_007248
Location:EXON
Amino Acid Prediction: M to R (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
RQTLIFFDMEATGLPFSQPKVTELCLLAVHRCALESPPTSQGPPPTVPPPPRVVDKLSLCVAPGKACSPAASEITGLSTA
VLAAHGRQCFDDNLANLLLAFLRRQPQPWCLVAHNGDRYDFPLLQAELAMLGLTSALDGAFCVDSITALKALERASSPSE
HGPRKSYSLGSIYTRLYGQSPPDSHTAEGDVLALLSICQWRPQALLRWVDAHARPFGTIRPMYGVTASARTKPRPSAVTT
TAHLATTRNTSPSLGESRGTKDLPPVKDPGALSREGLLAPLGLLAILTLAVATLYGLSLATPGE*

Gene Symbol:TREX1
Accession:NM_033629
Location:EXON
Amino Acid Prediction: M to R (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGSQALPPGPRQTLIFFDMEATGLPFSQPKVTELCLLAVHRCALESPPTSQGPPPTVPPPPRVVDKLSLCVAPGKACSPA
ASEITGLSTAVLAAHGRQCFDDNLANLLLAFLRRQPQPWCLVAHNGDRYDFPLLQAELAMLGLTSALDGAFCVDSITALK
ALERASSPSEHGPRKSYSLGSIYTRLYGQSPPDSHTAEGDVLALLSICQWRPQALLRWVDAHARPFGTIRPMYGVTASAR
TKPRPSAVTTTAHLATTRNTSPSLGESRGTKDLPPVKDPGALSREGLLAPLGLLAILTLAVATLYGLSLATPGE*

Gene Symbol:ATRIP
Accession:NR_153405
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000762113 CLINVAR
dbSNP (RS) rs1335411387 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 111822955 CLINVAR
  ATRIP CLINVAR
  TREX1 CLINVAR
OMIM 606605 CLINVAR
  606609 CLINVAR