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NM_205860.3 - NP_995582.1 (MANE)
NM_003822.5 - NP_003813.1
NM_001276464.2 - NP_001263393.1
DNA
Protein
Gene Info.
Genome Build
GRCh38
Chromosome
1
Location
Chr1:200,027,210-200,177,915
LOEUF
0.449
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ClinVar
Pathogenic/ Likely pa...
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GnomAD
Common [>1%]
Rare [<1%]
ToMMo
Common [>1%]
Rare [<1%]
By consequences
Missense
Loss-of-function
Synonymous
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Gene region:
CDS
SpliceSite
UTR
Intron
Flanking
External resources
NCBI Gene
2494
Ensembl
ENSG00000116833
GeneCards
NR5A2
UniProt
O00482
KEGG
hsa:2494
gnomAD
ENSG00000116833
ICGC
ENSG00000116833
RefDIC
2494
RefEx
2494
DTX
NR5A2
AS-ALPS
NR5A2
NR5A2
nuclear receptor subfamily 5 group A member 2
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