RGD:13211622 Rat Genome Database

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Variant: RGD:13211622 -  Homo sapiens

RGD ID: 13211622
RS ID: rs1554074682
ClinVar ID: CV425652
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NR2F1  NR2F1-AS1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 92,921,052
GRCh38 5 93,585,346
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_034119.1:g.7010G>T
NC_000005.10:g.93585346G>T
NC_000005.9:g.92921052G>T
NP_005645.1:p.Ser108Ile
More... 		11/17/2015 missense variant likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:NR2F1
Accession:NM_005654
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAMVVSSWRDPQDDVAGGNPGGPNPAAQAARGGGGGAGEQQQQAGSGAPHTPQTPGQPGAPATPGTAGDKGQGPPGSGQS
QQHIECVVCGDKSSGKHYGQFTCEGCKIFFKRSVRRNLTYTCRANRNCPIDQHHRNQCQYCRLKKCLKVGMRREAVQRGR
MPPTQPNPGQYALTNGDPLNGHCYLSGYISLLLRAEPYPTSRYGSQCMQPNNIMGIENICELAARLLFSAVEWARNIPFF
PDLQITDQVSLLRLTWSELFVLNAAQCSMPLHVAPLLAAAGLHASPMSADRVVAFMDHIRIFQEQVEKLKALHVDSAEYS
CLKAIVLFTSDACGLSDAAHIESLQEKSQCALEEYVRSQYPNQPSRFGKLLLRLPSLRTVSSSVIEQLFFVRLVGKTPIE
TLIRDMLLSGSSFNWPYMSIQCS*

Gene Symbol:NR2F1-AS1
Accession:NR_186216
Location:EXON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186218
Location:EXON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186221
Location:EXON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186222
Location:EXON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:NR2F1
Accession:NM_001410754
Location:INTRON

Gene Symbol:NR2F1-AS1
Accession:NR_109820
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186213
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186195
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186187
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186200
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186205
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186210
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186183
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_109818
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186184
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186196
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186204
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_021491
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_109824
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186188
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186212
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186190
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186193
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186199
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186220
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186211
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186189
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_109821
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186217
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186186
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186194
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186209
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_109823
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_109825
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186191
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186197
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186192
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186185
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_109822
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186198
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186182
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186202
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_021490
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186215
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186206
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186219
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186203
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_109819
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186214
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186201
Location:INTRON;NON-CODING

Gene Symbol:NR2F1-AS1
Accession:NR_186207
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000497695 CLINVAR
dbSNP (RS) rs1554074682 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene NR2F1 CLINVAR
  NR2F1-AS1 CLINVAR
OMIM 132890 CLINVAR