chr3:119781009:G>A Detail (hg38) (NR1I2)

Information

Genome

Assembly Position
hg19 chr3:119,499,856-119,499,856 View the variant detail on this assembly version.
hg38 chr3:119,781,009-119,781,009

HGVS

Type Transcript Protein
RefSeq NM_033013.2:c.-1314G>A
Ensemble ENST00000466380.6:c.-1314G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 603065 OMIM
HGNC 7968 HGNC
Ensembl ENSG00000144852 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv320984961 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.007 Crohn Disease Genomic DNA from 2823 individuals of Caucasian origin including 859 patients wit... BeFree 21830270 Detail
Annotation

Annotations

DescrptionSourceLinks
Genomic DNA from 2823 individuals of Caucasian origin including 859 patients with Crohn's disease (C... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs12721602 dbSNP
Genome
hg38
Position
chr3:119,781,009-119,781,009
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser