RGD:156056618 Rat Genome Database

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Variant: RGD:156056618 -  Homo sapiens

RGD ID: 156056618
ClinVar ID: CV2371106
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NR1I2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 119,531,560
GRCh38 3 119,812,713
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_033013.3:c.520-84G>A
NM_003889.4:c.547G>A
NM_022002.3:c.664G>A
NG_011856.2:g.35614G>A
More... 		10/26/2021 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:NR1I2
Accession:NM_022002
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTVTRTHHFKEGSLRAPAIPLHSAAAELASNHPRGPEANLEVRPKESWNHADFVHCEDTESVPGKPSVNADEEVGGPQIC
RVCGDKATGYHFNVMTCEGCKGFFRRAMKRNARLRCPFRKGACEITRKTRRQCQACRLRKCLESGMKKEMIMSDEAVEER
RALIKRKKSERTGTQPLGVQGLTEEQRMMIRELMDAQMKTFDTTFSHFKNFRLPGVLSSGCKLPESLQAPSREEAAKWSQ
VRKDLCSLKVSLQLRGEDGSVWNYKPPADSGGKEIFSLLPHMADMSTYMFKGIISFAKVISYFRDLPIEDQISLLKGAAF
ELCQLRFNTVFNAETGTWECGRLSYCLEDTAGGFQQLLLEPMLKFHYMLKKLQLHEEEYVLMQAISLFSPDRPGVLQHRV
VDQLQEQFAITLKSYIECNRPQPAHRFLFLKIMAMLTELRSINAQHTQRLLRIQDIHPFATPLMQELFGITGS*

Gene Symbol:NR1I2
Accession:NM_003889
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 183
Amino Acid Sequence
(Calculated using NCBI transcript definition)
LEVRPKESWNHADFVHCEDTESVPGKPSVNADEEVGGPQICRVCGDKATGYHFNVMTCEGCKGFFRRAMKRNARLRCPFR
KGACEITRKTRRQCQACRLRKCLESGMKKEMIMSDEAVEERRALIKRKKSERTGTQPLGVQGLTEEQRMMIRELMDAQMK
TFDTTFSHFKNFRLPGVLSSGCKLPESLQAPSREEAAKWSQVRKDLCSLKVSLQLRGEDGSVWNYKPPADSGGKEIFSLL
PHMADMSTYMFKGIISFAKVISYFRDLPIEDQISLLKGAAFELCQLRFNTVFNAETGTWECGRLSYCLEDTAGGFQQLLL
EPMLKFHYMLKKLQLHEEEYVLMQAISLFSPDRPGVLQHRVVDQLQEQFAITLKSYIECNRPQPAHRFLFLKIMAMLTEL
RSINAQHTQRLLRIQDIHPFATPLMQELFGITGS*

Gene Symbol:NR1I2
Accession:NM_033013
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004220858 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene NR1I2 CLINVAR
OMIM 603065 CLINVAR