RGD:156029519 Rat Genome Database

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Variant: RGD:156029519 -  Homo sapiens

RGD ID: 156029519
ClinVar ID: CV2116769
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NR2F1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 92,929,368
GRCh38 5 93,593,662
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001410754.1:c.642C>T
NG_034119.1:g.15326C>T
NC_000005.10:g.93593662C>T
NC_000005.9:g.92929368C>T
More... 		04/08/2022 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NR2F1
Accession:NM_001410754
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 214
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFGYSVQRGRMPPTQPNPGQYALTNGDPLNGHCYLSGYISLLLRAEPYPTSRYGSQCMQPNNIMGIENICELAARLLFSA
VEWARNIPFFPDLQITDQVSLLRLTWSELFVLNAAQCSMPLHVAPLLAAAGLHASPMSADRVVAFMDHIRIFQEQVEKLK
ALHVDSAEYSCLKAIVLFTSDACGLSDAAHIESLQEKSQCALEEYVRSQYPNQPSRFGKLLLRLPSLRTVSSSVIEQLFF
VRLVGKTPIETLIRDMLLSGSSFNWPYMSIQCS*

Gene Symbol:
Accession:
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 214
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFGYSVQRGRMPPTQPNPGQYALTNGDPLNGHCYLSGYISLLLRAEPYPTSRYGSQCMQPNNIMGIENICELAARLLFSA
VEWARNIPFFPDLQITDQVSLLRLTWSELFVLNAAQCSMPLHVAPLLAAAGLHASPMSADRVVAFMDHIRIFQEQVEKLK
ALHVDSAEYSCLKAIVLFTSDACGLSDAAHIESLQEKSQCALEEYVRSQYPNQPSRFGKLLLRLPSLRTVSSSVIEQLFF
VRLVGKTPIETLIRDMLLSGSSFNWPYMSIQCS*

Gene Symbol:NR2F1
Accession:NM_005654
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 364
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAMVVSSWRDPQDDVAGGNPGGPNPAAQAARGGGGGAGEQQQQAGSGAPHTPQTPGQPGAPATPGTAGDKGQGPPGSGQS
QQHIECVVCGDKSSGKHYGQFTCEGCKSFFKRSVRRNLTYTCRANRNCPIDQHHRNQCQYCRLKKCLKVGMRREAVQRGR
MPPTQPNPGQYALTNGDPLNGHCYLSGYISLLLRAEPYPTSRYGSQCMQPNNIMGIENICELAARLLFSAVEWARNIPFF
PDLQITDQVSLLRLTWSELFVLNAAQCSMPLHVAPLLAAAGLHASPMSADRVVAFMDHIRIFQEQVEKLKALHVDSAEYS
CLKAIVLFTSDACGLSDAAHIESLQEKSQCALEEYVRSQYPNQPSRFGKLLLRLPSLRTVSSSVIEQLFFVRLVGKTPIE
TLIRDMLLSGSSFNWPYMSIQCS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002923449 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NR2F1 CLINVAR
OMIM 132890 CLINVAR