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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

DHCR7 Gene

protein-coding GIFtS: 67
GCID: GC11M071145

7-dehydrocholesterol reductase

(Previous name: Smith-Lemli-Opitz syndrome )
(Previous symbol: SLOS)

Explore 24 diseases affiliated with
DHCR7 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
7-Dehydrocholesterol Reductase¹ ²		Delta-7-Dehydrocholesterol Reductase²
SLOS¹ ² ⁵		Sterol Delta-7-Reductase²
Putative Sterol Reductase SR-2² ³		D7SR³
7-DHC Reductase² ³		Sterol Delta(7)-Reductase³
EC 1.3.1.21³ ⁸		EC 1.3.1⁸
Smith-Lemli-Opitz Syndrome¹

External Ids:	HGNC: 2860¹	Entrez Gene: 1717²	Ensembl: ENSG00000172893⁷	OMIM: 602858⁵	UniProtKB: Q9UBM7³

Export aliases for DHCR7 gene to outside databases

Previous GC identifers: GC11M073477 GC11M072685 GC11M071368 GC11M070871 GC11M070823 GC11M067439

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for DHCR7:

This gene encodes an enzyme that removes the C(7-8) double bond in the B ring of sterols and catalyzes the conversion

of 7-dehydrocholesterol to cholesterol. This gene is ubiquitously expressed and its transmembrane protein localizes to

the endoplasmic reticulum membrane and nuclear outer membrane. Mutations in this gene cause Smith-Lemli-Opitz syndrome

(SLOS); a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum

7-dehydrocholesterol levels and phenotypically characterized by mental retardation, facial dysmorphism, syndactyly of

second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal

intelligence in mild cases. Alternative splicing results in multiple transcript variants that encode the same

protein.(provided by RefSeq, Aug 2009)

UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7

Function: Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC)

summary for DHCR7:

Delta7-Dehydrocholesterol reductase (DHCR) is a membrane-bound enzyme that catalyzes the final step of

cholesterol biosynthesis (the reduction of the C7-8 double bond in 7-dehydrocholesterol to form

cholesterol), using NADPH as a cofactor. Cholesterol is a vital component in biological membranes and in

myelin and is necessary for the synthesis of steroid hormones and bile acids. DHCR is ubiquitously expressed

and its highest concentrations are found in the liver and brain. Autosomal recessive mutations in the DHCR7

gene have been linked to Smith-Lemli-Opitz syndrome, an inherited disease causing multiple congenital

abnormalities linked to defects in cholesterol biosynthesis. The human gene encoding this enzyme is

localized to 11q12-13.

Gene Wiki entry for DHCR7 (7-Dehydrocholesterol reductase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000011.9 NC_018922.1 NT_167190.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the DHCR7 gene promoter:
SRF NF-1 NF-1/L GATA-3 SRF (504 AA) GATA-1 GATA-2 YY1 HOXA5 ATF6
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): DHCR7 promoter sequence

Search SABiosciences Chromatin IP Primers for DHCR7

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DHCR7

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.4 Ensembl cytogenetic band: 11q13.4 HGNC cytogenetic band: 11q13.4

DHCR7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DHCR7 gene location

GeneLoc information about chromosome 11 GeneLoc Exon Structure

GeneLoc location for GC11M071145: view genomic region (about GC identifiers)

Start:	71,139,239 bp from pter	End:	71,163,914 bp from pter
Size:	24,676 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7 (See protein sequence)

Recommended Name: 7-dehydrocholesterol reductase

Size: 475 amino acids; 54489 Da

Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein

Secondary accessions: B2R6Z2 O60492 O60717

Explore the universe of human proteins at neXtProt for DHCR7: NX_Q9UBM7

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UBM7

4/11 DME Specific Peptides for DHCR7 (Q9UBM7) (see all 11)

HLLPYFY

MGIEFNP

FIMACDQY

DNWIPLLWC

DHCR7 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001157289.1 NP_001351.2

ENSEMBL proteins:

ENSP00000432256 ENSP00000384739 ENSP00000347717 ENSP00000435011 ENSP00000435956

ENSP00000437328 ENSP00000435047 ENSP00000435668 ENSP00000435707 ENSP00000432589

ENSP00000435058 ENSP00000436007

Reactome Protein details: Q9UBM7
Human Recombinant Protein Products:

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	Novus Biologicals DHCR7 Protein Novus Biologicals DHCR7 Lysates
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	Uscn Proteins for DHCR7

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005640	nuclear outer membrane	IDA	9878250
GO:0005783	endoplasmic reticulum	IDA	9878250
GO:0005789	endoplasmic reticulum membrane	TAS	--
GO:0005792	microsome	--	--
GO:0016020	membrane	--	--

DHCR7 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for DHCR7

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

DHCR7 for domains About GeneDecksing

2 InterPro domains/families:

IPR018083 Sterol_reductase_CS

IPR001171 Ergosterol_biosynth_ERG4_ERG24

Graphical View of Domain Structure for InterPro Entry Q9UBM7

ProtoNet protein and cluster: Q9UBM7

2 Blocks protein families:

IPB001171 ERG4/ERG24 ergosterol biosynthesis protein

IPB011024 Gamma-crystallin related

UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7

Similarity: Belongs to the ERG4/ERG24 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7

Function: Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC)

Catalytic activity: Cholesterol + NADP(+) = cholesta-5,7-dien-3-beta-ol + NADPH

Genatlas biochemistry entry for DHCR7:

delta 7-dehydrocholesterol reductase,located in the endoplasmic reticulum and continuous outer nuclear

membrane,ubiquitously expressed,most abundant in adrenals,liver,testis,brain,LBR superfamily,catalyzing the ultimate

step of cholesterol biosynthesis,deficient in SLOS

Enzyme Numbers (IUBMB): EC 1.3.1.21¹ ² EC 1.3.1²

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DHCR7
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DHCR7

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016628	oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	--	--
GO:0047598	7-dehydrocholesterol reductase activity	IDA	9465114

DHCR7 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for DHCR7:

Decreased viability

Upregulation of Wnt/beta-caten

Animal Models:
Mouse knock-outs for DHCR7: Dhcr7^tm1Gst Dhcr7^tm1Fdp
13 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Dhcr7):

behavior/neurological	cardiovascular system	craniofacial	digestive/alimentary	growth/size
homeostasis/metabolism	limbs/digits/tail	liver/biliary system	mortality/aging	muscle
nervous system	renal/urinary system	respiratory system

DHCR7 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

cholesterol biosynthesis III (via desmosterol)

	cholesterol biosynthesis III (via desmosterol)	1.00			cholesterol biosynthesis II (via 24,25-dihydrolanosterol)	1.00
	cholesterol biosynthesis I	1.00			Steroid biosynthesis	0.60

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Cholesterol biosynthesis

	Cholesterol biosynthesis	1.00			Cholesterol Biosynthesis	0.68
	superpathway of cholesterol biosynthesis	0.81

Regulation of Cholesterol Biosynthesis by SREBP (SREBF)

Regulation of Cholesterol Biosynthesis by SREBP (SREBF)

1.00

Activation of Gene Expression by SREBP (SREBF)

0.67

Expression of Mevalonate Kinase (MVK)

Expression of 7-Dehydrocholesterol Reductase (DHCR7)

0.75

Pathway sources
See GeneCards unified pathways
Show all pathways

5 BioSystems Pathways for DHCR7

	Cholesterol Biosynthesis
	cholesterol biosynthesis II (via 24,25-dihydrolanosterol)
	superpathway of cholesterol biosynthesis
	cholesterol biosynthesis I
	cholesterol biosynthesis III (via desmosterol)

5/6 Reactome Pathways for DHCR7 (see all 6)

	Metabolism
	Cholesterol biosynthesis
	Expression of 7-Dehydrocholesterol Reductase (DHCR7)
	Activation of Gene Expression by SREBP (SREBF)
	Metabolism of lipids and lipoproteins

2 Kegg Pathways (Kegg details for DHCR7):

	Steroid biosynthesis
	Metabolic pathways

UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7

Pathway: Steroid biosynthesis; cholesterol biosynthesis

DHCR7 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for DHCR7

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/139 Interacting proteins for DHCR7 (Q9UBM7^{2, 3} ENSP00000347717⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 139)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	P0CG48²^,³, ENSP00000344818⁴	MINT-6489355 I2D: score=1 STRING: ENSP00000344818
AGO2	Q9UKV8², ENSP00000220592⁴	MINT-6489217 MINT-6489355 STRING: ENSP00000220592
FADS1	O60427³, ENSP00000322229⁴	I2D: score=2 STRING: ENSP00000322229
NDN	Q99608³, ENSP00000332643⁴	I2D: score=2 STRING: ENSP00000332643
ACP6	Q9NPH0³, ENSP00000358241⁴	I2D: score=1 STRING: ENSP00000358241

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001568	blood vessel development	IEA	--
GO:0006695	cholesterol biosynthetic process	TAS	--
GO:0009791	post-embryonic development	IEA	--
GO:0016126	sterol biosynthetic process	--	--
GO:0030154	cell differentiation	IEA	--

DHCR7 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

DHCR7 for compounds About GeneDecksing

EMD Millipore small molecules for DHCR7:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Compounds for DHCR7 available from Tocris Bioscience About this table

Compound	Action	CAS #
AY 9944 dihydrochloride	Inhibitor of hedgehog (Hh) signaling. Inhibits delta7-dehydrocholesterol reductase	[366-93-8]

10 HMDB Compounds for DHCR7 About this table

Compound	Synonyms	CAS #	PubMed Ids
7-Dehydrocholesterol	(-)-7-dehydrocholesterol (see all 26)	434-16-2	18285838
24-Methylenecholesterol	(3b)-Ergosta-5,24(28)-dien-3-ol (see all 8)	474-63-5	--
5-Dehydroavenasterol		--	--
5-Dehydroepisterol	Ergosta-5,7,24(28)-trien-3beta-ol (see all 2)	23582-83-4	--
Avenasterol	Isofucosterol (see all 10)	481-14-1	--
Cholesterol	(+)-ent-Cholesterol (see all 39)	57-88-5	--
NAD	3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)	53-84-9	--
NADH	1,4-Dihydronicotinamide adenine dinucleotide (see all 17)	58-68-4	--
NADP	Adenine-nicotinamide dinucleotide phosphate (see all 18)	53-59-8	--
NADPH	2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)	53-57-6	--

1 DrugBank Compound for DHCR7 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
NADH	beta-DPNH (see all 18)	606-68-8	target	--	17139284 17016423

10/12 Novoseek chemical compound relationships for DHCR7 gene (see all 12) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
7-dehydrocholesterol	98.3	159	9683613 (4), 16814115 (3), 9634533 (3), 20014133 (3) (see all 73)
8-dehydrocholesterol	93.4	7	19406241 (1), 18249054 (1), 12949967 (1), 11352988 (1)
3beta-hydroxysterol	92.3	6	16392899 (1), 11001807 (1), 11562938 (1), 16446309 (1) (see all 6)
ay9944	84.6	7	8987154 (2), 9358606 (2), 16814115 (1)
sterol	80.2	22	9634533 (4), 11001806 (2), 19940018 (2), 9683613 (1) (see all 10)
cholesterol	76	135	17408495 (4), 20014133 (3), 16687448 (3), 18951487 (2) (see all 66)
desmosterol	59.4	1	16207203 (1)
squalene	53.1	8	18951487 (2), 15143536 (1)
ergosterol	43.9	2	10719329 (1), 15464432 (1)
simvastatin	42.8	3	15896653 (2), 19365639 (1)

Search CenterWatch for drugs/clinical trials and news about DHCR7

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for DHCR7 gene (2 alternative transcripts):

NM_001163817.1 NM_001360.2

Unigene Cluster for DHCR7:

7-dehydrocholesterol reductase

Hs.503134 [show with all ESTs]

Unigene Representative Sequence: NM_001360

13 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000534795 ENST00000407721 ENST00000355527(uc001oqk.3 uc001oql.3)

ENST00000533800 ENST00000525137 ENST00000524694 ENST00000527316 ENST00000534701

ENST00000526780 ENST00000525346 ENST00000531364 ENST00000529990 ENST00000527452

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DHCR7

Additional cDNA sequence:

AF034544.1 AF062481.1 AF067127.1 AF096305.1 AK289497.1 AK303881.1 AK309625.1 AK312775.1

BC000054.2

19 DOTS entries:

DT.100647914 DT.418224 DT.100647904 DT.95326177 DT.100647915 DT.120742723 DT.100837843 DT.100647913

DT.100671595 DT.120742731 DT.91758253 DT.95181639 DT.95357168 DT.100033172 DT.120742718 DT.40108063

DT.95290620 DT.95357166 DT.95357178

24/440 AceView cDNA sequences (see all 440):

BE799908 BU848891 AI521555 AA343352 BU684875 AA282516 AA861245 BU931469

AU125589 BU632366 AA070075 CA454504 AI610807 BM560287 BU846251 AW249784

BI835977 AI192049 AL118630 AI682081 BU850080 AW806469 CR609879 BM548686

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for DHCR7 (see all 11) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	·	1f	^	2a	·	2b	·	2c	^	3a	·	3b	^	4a	·	4b	·	4c	·	4d	·	4e	^	5	^	6	^	7a	·	7b	^	8a	·	8b	^	9	^	10a	·	10b
SP1:									-		-		-										-								-														-
SP2:											-		-										-								-														-
SP3:											-		-										-								-
SP4:											-		-										-		-						-
SP5:											-		-										-

ECgene alternative splicing isoforms for DHCR7

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

DHCR7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCGTTTCCTT

About this image
See DHCR7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DHCR7

SOURCE GeneReport for Unigene cluster: Hs.503134

UniProtKB/Swiss-Prot: DHCR7_HUMAN, Q9UBM7

Tissue specificity: Most abundant in adrenal gland, liver, testis, and brain

SABiosciences Expression via Pathway-Focused PCR Array including DHCR7:

Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for DHCR7 gene from 6/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	DHCR7¹	7-dehydrocholesterol reductase	72.66(n) 78.95(a)		422982 NM_001199490.1 NP_001186419.1
lizard (Anolis carolinensis)	Reptilia	DHCR7⁶	--	74(a)	1 ↔ 1	1(56044720-56055067)
African clawed frog (Xenopus laevis)	Amphibia	BC054203.1²	--	76.1(n)		BC054203.1
zebrafish (Danio rerio)	Actinopterygii	dhcr7²	7-dehydrocholesterol reductase	78.74(n)		378446 BC055631.1
thale cress (Arabidopsis thaliana)	eudicotyledons	DWF5¹	7-dehydrocholesterol reductase	46.71(n) 37.74(a)		841465 NM_103926.5 NP_175460.1
rice (Oryza sativa)	Liliopsida	Os02g0465400¹	hypothetical protein	49.28(n) 39.13(a)		4329318 NM_001053344.1 NP_001046809.1

ENSEMBL Gene Tree for DHCR7 (if available)
TreeFam Gene Tree for DHCR7 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for DHCR7 gene

LBR² TM7SF2²

2 SIMAP similar genes for DHCR7 using alignment to 11 protein entries: DHCR7_HUMAN (see all proteins):

LBR TM7SF2

DHCR7 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104886033^1,2	C	pathogenic	100501683(-)	`GCCCAA/GTGGCT`	4	M V	mis¹		0	--	--	--	--
rs121909767^1,2	C	pathogenic	100501685(-)	`CCAATG/AGCTGC`	4	/I /M	mis¹		1		NA	4552
rs80338853^1,2	C	pathogenic	100502599(-)	`TATAAC/TGAGGA`	4	T M	mis¹		1		NA	4538
rs104886039^1,2	C	pathogenic	100502613(-)	`CCGCCC/TAGCTC`	4	Q *	stg¹		1		EU	1225
rs11555217^1,2	C,F	pathogenic	100505234(-)	`AGCCTA/C/GGCTCC`	6	* S W	stg¹ mis¹		5		EA NA EU	5987
rs104894213^1,2	C	pathogenic	100505235(-)	`GCCTGA/GCTCCT`	4	* W	stg¹		0	--	--	--	--
rs80338856^1,2	C	pathogenic	100507649(-)	`ATGGGC/TGCCCC`	4	R C	mis¹		1		NA	4548
rs80338857^1,2	C	pathogenic	100507650(-)	`TGGGCA/GCCCCG`	4	H R	mis¹		0	--	--	--	--
rs104894212^1,2	C	pathogenic	100507669(-)	`GCCTGG/TACCCT`	4	W C	mis¹		0	--	--	--	--
rs80338858^1,2	C,	pathogenic	100508766(-)	`CACTTC/G/TGGGTG`	6	F L	mis¹ syn¹		1		NA	4552
rs80338859^1,2	C	pathogenic	100510807(-)	`ACTTGG/TTGTAC`	4	V L	mis¹		0	--	--	--	--
rs80338860^1,2	C	pathogenic	100510885(-)	`TCTTCC/TGGGTG`	4	R W	mis¹		0	--	--	--	--
rs61757582^1,2	C	pathogenic	100511041(+)	`GTGGCA/GGGCCA`	4	R C	mis¹		0	--	--	--	--
rs80338864^1,2	C	pathogenic	100511173(-)	`GGGACG/AAGCAC`	4	/K /E	mis¹		1		EU	943
rs112016472^1,2	C,	--	67438803(+)	`CCTTGA/C/GGGGGG`	2	--	ds500¹		0	--	--	--	--
rs58046295^1,2	C,	--	67439258(+)	`TGCTCG/AAGCCA`	2	--	ut3¹		2		WA	120
rs79320071^1,2	C,	--	67439448(+)	`GGAAAC/TGACAT`	2	--	ut3¹		2		WA	120
rs11233662^1,2		--	67439562(+)	`GGATCC/TAGAGC`	2	--	ut3¹		0	--	--	--	--
rs78575838^1,2	C,	--	67439655(+)	`GGGAAG/AACCTC`	2	--	ut3¹		2		WA	120
rs113188310^1,2		--	67439813(+)	`GTGCTA/GGACAC`	2	--	ut3¹		1		CSA	3
rs115338563^1,2	C,F,	--	67439821(+)	`CACTCG/AGAATT`	2	--	ut3¹		2		WA NA	238
rs200229535^1,2	C	--	67439852(-)	`ACGCTC/TTNNNN`	2	--	ut3¹		0	--	--	--	--
rs760242^1,2	C,F,A,H	--	67440168(-)	`GCGGTG/AGCCAC`	4	/S /G	mis¹ ese³		12		EA NA MN NS	1188
rs78523425^1,2	C,	--	67440243(+)	`GCCCCA/CGAAGC`	4	G W	mis¹		0	--	--	--	--
rs12577137^1,2	C,H	--	67440287(+)	`CATCGG/CCGGAT`	4	/A /G	mis¹ ese³		1		EA	166
rs77762671^1,2		--	67440437(+)	`CGTGCG/CGGGTG`	4	/P /R	mis¹		1		WA	118
rs79599760^1,2	C,	--	67440875(+)	`TCAGAC/TGAGGT`	2	--	int¹		1		WA	2
rs78776032^1,2	F,	--	67441659(+)	`CATGCG/CGGGGG`	2	--	int¹		1		WA	118
rs2852858^1,2	H	--	67441763(-)	`TGCGGG/ATGTCC`	2	--	int¹		4		NS EA	418
rs12281087^1,2	H	--	67442145(+)	`ACATCC/ATAGGA`	2	--	int¹		4		NS EA	402
rs2852857^1,2	H	--	67442260(-)	`TATGTC/TCCTAA`	2	--	int¹		4		NS EA	410
rs11233679^1,2		--	67442657(+)	`CTCCAC/TGCAGA`	2	--	int¹		3		NA WA	122
rs72954285^1,2		--	67443021(+)	`CCCAGA/CTCAGC`	2	--	int¹		0	--	--	--	--
rs2852855^1,2	H	--	67443409(-)	`AAAGAG/AAGTCA`	2	--	int¹		4		NS EA	382
rs2852854^1,2	C,H	--	67443507(-)	`CCTGTC/TATGGC`	2	--	int¹		4		NS EA	418
rs113950278^1,2	C	--	67443585(+)	`GCGAAA/C/GGACAG`	6	S	syn¹		1		CSA	1
rs2852852^1,2	H	--	67444185(-)	`GGCGTG/AATTTA`	2	--	int¹		4		NS EA	420
rs76308763^1,2	C,	--	67444280(+)	`ATCCCC/TGGAGG`	2	--	int¹		2		WA	120
rs75058745^1,2	C,	--	67444310(+)	`TAACCC/TCTGTG`	2	--	int¹		2		WA	120
rs77800697^1,2	F,	--	67444638(+)	`AACCCC/TCCAAA`	2	--	int¹		1		WA	118
rs74615585^1,2	F	--	67444640(+)	`CCCCCC/AAAACA`	2	--	int¹		2		NA CSA	4
rs59157735^1,2		--	67445107(+)	`GATGAT/CGGATG`	2	--	int¹		2		CSA EA	122
rs12283656^1,2		--	67445124(+)	`tgggtA/Cggtgg`	2	--	int¹		0	--	--	--	--
rs12285189^1,2		--	67445365(+)	`gtggaC/Tgggtg`	2	--	int¹		0	--	--	--	--
rs2852849^1,2	H	--	67445404(+)	`agtggA/GCAGAG`	2	--	int¹		4		NS EA	410
rs2852850^1,2	H	--	67445557(+)	`GGCAAT/CGGGCT`	2	--	int¹		4		NS EA	410
rs117229929^1,2	C,F,	--	67445677(+)	`GCCAAG/AGCTGG`	2	--	int¹		1		NA	120
rs760238^1,2	H	--	67445704(-)	`ATCCTT/CCCTGA`	2	--	int¹		6		NS EA NA	424
rs77184167^1,2	C,	--	67445797(+)	`CAGGCG/AGCAAG`	2	--	int¹		1		WA	2
rs77191942^1,2	F,	--	67446260(+)	`ACCTGC/TTCCTA`	2	--	int¹		1		WA	118
rs79386250^1,2		--	67446332(+)	`CTGAGT/GGACAG`	2	--	int¹		1		NA	120
rs78311914^1,2	C,	--	67446579(+)	`TCCCAC/TGGACA`	2	--	int¹		1		WA	2
rs76117525^1,2	F,	--	67446696(+)	`CCTTAC/TCCAGG`	2	--	int¹		1		WA	118
rs79041455^1,2	F,	--	67446726(+)	`GTGTGG/AGATGG`	2	--	int¹		4		CSA WA	123
rs78415897^1,2	F,	--	67447152(+)	`GGGTTC/TTGAGA`	2	--	int¹		1		EA	120
rs12294879^1,2	H,	--	67447612(+)	`ctgccG/Acccct`	2	--	int¹		4		NS EA	412
rs77872619^1,2	F,	--	67447952(+)	`GAAGCT/CTGGAC`	2	--	int¹		3		CSA WA	122
rs77202975^1,2	F,	--	67448149(+)	`GTGGGG/AACACC`	2	--	int¹		1		WA	118
rs17161531^1,2	C,F,H,	--	67448206(+)	`ACATGG/ACCCTC`	2	--	int¹		16		NA NS EA CSA WA	1213
rs2851691^1,2	H	--	67448515(+)	`CGGGAA/GCCCAG`	2	--	int¹		4		NS EA	414
rs75644508^1,2	C,	--	67449287(+)	`AGTTGC/TTGACT`	2	--	int¹		1		WA	2
rs114935527^1,2	C,F,	--	67449404(+)	`CCTTCA/GTTCCT`	2	--	int¹		1		WA	118
rs114439270^1,2	C,F,	--	67449703(+)	`TGTGCA/GCATCT`	2	--	int¹		1		WA	118
rs115051781^1,2	C,F,	--	67450158(+)	`CCCATC/TGCCTA`	2	--	int¹		1		WA	118
rs61310240^1,2		--	67451082(+)	`GCACAG/TAAGGG`	2	--	int¹		0	--	--	--	--
rs75686975^1,2	F,	--	67451160(+)	`AAGTAG/CCTGAA`	2	--	int¹		1		WA	118
rs10450661^1,2	F,A,	--	67451319(+)	`TCAACG/AATGAA`	2	--	int¹		3		CSA WA	122
rs61084539^1,2	F,	--	67451952(+)	`GTTGTC/GAAAAG`	2	--	int¹		1		EA	120
rs7950991^1,2	C,F,	--	67452205(+)	`GTGAAG/TCCATA`	2	--	int¹		3		CSA WA	122
rs75974711^1,2	C,F,	--	67452277(+)	`TCACAG/ACAGAA`	2	--	ut5¹		1		WA	118
rs12271811^1,2	F,	--	67452417(+)	`TGACAT/CTTCAG`	2	--	int¹		1		WA	118
rs199669566^1,2	C	--	67452522(-)	`GGCTTG/TTNNNN`	2	--	int¹		0	--	--	--	--
rs111511035^1,2	C,	--	67453083(+)	`AATCGG/AAGGCG`	2	--	us2k¹		2		WA	120
rs10450662^1,2	F,A,	--	67453233(+)	`cgcccG/Cggccc`	2	--	us2k¹		1		WA	118
rs77926919^1,2	F,	--	67453685(+)	`AGTGCG/CAGCCG`	2	--	us2k¹		1		WA	118
rs11233713^1,2		--	67453907(+)	`ACAAAC/GAAGTT`	2	--	us2k¹		1		WA	118
rs28364616^1,2	F,	--	67453982(-)	`AGAGGG/TAGAGA`	2	--	us2k¹ trp³		1		EA	120
rs74720661^1,2	C,	--	67454127(+)	`ATACAG/ATGACC`	2	--	us2k¹		1		WA	2
rs111928673^1,2	C,	--	67454431(+)	`CCCCAA/GGCTGG`	2	--	us2k¹		2		NA	122
rs80311391^1,2	C,	--	67454489(+)	`GTGCTG/AGGACT`	2	--	us2k¹		1		WA	2
rs75751785^1,2	F,	--	67454593(+)	`CAGGAT/CAATAT`	2	--	us2k¹		1		EA	120
rs116634694^1,2	F,	--	71145069(+)	`CTGAGC/TTTGGC`	2	--	ds500¹		1		WA	118
rs181418664^1,2		--	71145142(+)	`CAAACA/CTGGCA`	2	--	ds500¹		0	--	--	--	--
rs116125233^1,2	F,	--	71145307(+)	`CCCACG/AGGCAC`	2	--	ds500¹		1		WA	118
rs189259912^1,2		--	71145326(+)	`TTGACA/GCCGAG`	2	--	ds500¹		0	--	--	--	--
rs149624008^1,2		--	71145334(+)	`GAGACC/TCAAGC`	2	--	ds500¹		0	--	--	--	--
rs182557031^1,2		--	71145340(+)	`CAAGCA/GTCTCT`	2	--	ds500¹		0	--	--	--	--
rs144347001^1,2		--	71145360(+)	`CCCTTC/TTCATA`	2	--	ds500¹		0	--	--	--	--
rs114672294^1,2	F,	--	71145383(+)	`CCCACG/ATATAC`	2	--	ds500¹		1		WA	118
rs143699520^1,2		--	71145482(+)	`TAATAC/TAAAGA`	2	--	ut3¹		0	--	--	--	--
rs185936568^1,2		--	71145532(+)	`CACAAC/TACCCT`	2	--	ut3¹		0	--	--	--	--
rs190840764^1,2		--	71145592(+)	`CCTCCC/TGAGGC`	2	--	ut3¹		0	--	--	--	--
rs146774511^1,2		--	71145594(+)	`TCCCGA/TGGCTG`	2	--	ut3¹		0	--	--	--	--
rs7690^1,2	C,F,	--	71145687(-)	`GCCCTA/C/G/T TGACT`	6	--	ut3¹		11		MN NA WA CSA EA	556
rs1044535^1,2	C,F,A,H,	--	71145778(-)	`AGCACT/CGGCTG`	2	--	ut3¹ ese³		20		MN NS EA NA WA	2528
rs1790345^1,2	C,F,A,H,	--	71145941(-)	`GCAGTC/TGTGGG`	2	--	ut3¹ ese³		20		MN NS EA NA WA	2528
rs180885292^1,2		--	71146005(+)	`GCACGC/TCCCAC`	2	--	ut3¹		0	--	--	--	--
rs185557595^1,2		--	71146195(+)	`AATCCA/GTCTGT`	2	--	ut3¹		0	--	--	--	--
rs141483210^1,2	C,	--	71146249(+)	`GCAAA-/AGCAA GGAACAGAGCGT`	2	--	ut3¹		0	--	--	--	--
rs143459841^1,2		--	71146290(+)	`GCCAAA/GTGCTG`	2	--	ut3¹		0	--	--	--	--
rs151230950^1,2		--	71146302(+)	`GCTCTC/TTCCAG`	2	--	ut3¹		0	--	--	--	--
rs182965373^1,2		--	71146364(+)	`CCCATA/GGACCT`	2	--	ut3¹		0	--	--	--	--
rs201871263^1,2		--	71146379(+)	`GAACAC/TGCTCT`	2	--	ut3¹		0	--	--	--	--
rs114143715^1,2	C,F,	--	71146393(+)	`CAGCCC/ACACAG`	2	--	ut3¹		1		WA	118
rs201150384^1,2	C,	--	71146443(+)	`GCAGGC/TGGTAA`	4	H R	mis¹		0	--	--	--	--
rs200477386^1,2		--	71146460(+)	`GCGGCA/GGTGTA`	4	T	syn¹		0	--	--	--	--
rs199506852^1,2		--	71146468(+)	`GTAGCA/GCTCCC`	4	R C	mis¹		0	--	--	--	--
rs144562471^1,2	F	--	71146481(+)	`TCCCGG/ACCGTA`	4	/G	syn¹		1		NA	4360
rs201847193^1,2		--	71146483(+)	`CCGGCC/TGTACT`	4	S G	mis¹		0	--	--	--	--
rs147850435^1,2	F	--	71146487(+)	`CCGTAC/TTTGCT`	4	K	syn¹		1		NA	4364
rs140400648^1,2	C,	--	71146495(+)	`GCTGGC/TGCAGC`	4	T A	mis¹		0	--	--	--	--
rs139721775^1,2	C,F,	--	71146508(+)	`TGCTCG/ATCCCG`	4	/D	syn¹		2		NA EU	5311
rs909217^1,2	C,F,A,H,	--	71146577(-)	`GGCGGT/CGGCCA`	4	/G	syn¹ ese³		13		MN NA CSA WA EA EU	4788
rs760241^1,2	C,F,A,H,	--	71146691(-)	`GCCGAA/C/TGGGCA`	6	E D	mis¹ syn¹		33		MN NS EA NA CSA WA EU	9428
rs35946774^1,2	C,F,	--	71146757(+)	`CCATCC/TGTGCG`	4	T	syn¹		2		NA	4598
rs200539324^1,2		--	71146761(+)	`CCGTGC/TGGCGG`	4	H R	mis¹		0	--	--	--	--
rs199957106^1,2		--	71146824(+)	`CCAGCA/GGCAGG`	4	P L	mis¹		0	--	--	--	--
rs148081697^1,2	C	--	71146831(+)	`CAGGAC/TGCCCA`	4	I V	mis¹		1		NA	4388
rs72954276^1,2	C,F,	--	71146837(+)	`GCCCAC/TGGCGT`	4	M V	mis¹		2		NA EU	5063
rs75225632^1,2	C,F,	--	71146841(+)	`ACGGCG/ATGCGG`	4	/H	syn¹		2		EA NA	4296
rs139724817^1,2	C,	--	71146861(+)	`CTGCAC/TGGGGT`	4	M V	mis¹		1		NA	3774
rs145901607^1,2	C,	--	71146862(+)	`TGCACA/GGGGTG`	4	P	syn¹		0	--	--	--	--
rs138659167^1,2	C,	--	71146886(+)	`AGACCC/GTGGGG`	2	--	spa¹		1		EU	145
rs1792268^1,2	C,F,A,H,	--	71146952(-)	`GGCCCT/CCGAGC`	2	--	int¹		18		EA NA NS WA	954
rs191941044^1,2		--	71147009(+)	`GCCTCC/TGTGTT`	2	--	int¹		0	--	--	--	--
rs143811340^1,2		--	71147010(+)	`CCTCCA/GTGTTC`	2	--	int¹		0	--	--	--	--
rs148158317^1,2		--	71147059(+)	`TGGTCA/GTTAAA`	2	--	int¹		0	--	--	--	--
rs142020516^1,2		--	71147201(+)	`TGTGAC/TGGTCA`	2	--	int¹		0	--	--	--	--
rs150655304^1,2		--	71147213(+)	`TTTAAC/TGTGTC`	2	--	int¹		0	--	--	--	--
rs138968669^1,2		--	71147231(+)	`CCAGGC/GCATTG`	2	--	int¹		0	--	--	--	--
rs184241358^1,2		--	71147243(+)	`TCCCAA/GATATT`	2	--	int¹		0	--	--	--	--
rs78357029^1,2	F,	--	71147326(+)	`ATGACC/ACTTCA`	2	--	int¹		1		EA	120
rs192561695^1,2		--	71147345(+)	`GTGGGC/TCTCAT`	2	--	int¹		0	--	--	--	--
rs79209836^1,2	F,	--	71147421(+)	`AAAGTG/AGCCTT`	2	--	int¹		1		EA	120
rs183670731^1,2		--	71147570(+)	`TGGGCA/GTGGTG`	2	--	int¹		0	--	--	--	--
rs186924567^1,2		--	71147671(+)	`ACCACC/TGCACT`	2	--	int¹		0	--	--	--	--
rs142031282^1,2		--	71147696(+)	`AGAGCA/GAGACT`	2	--	int¹		0	--	--	--	--
rs5792559^1,2	C	--	71147709(+)	`GTCTC-/AAAAAA`	2	--	int¹ trp³		1		NA	2
rs1790330^1,2	C,F,A,	--	71147825(-)	`GAGATG/ATATTT`	2	--	int¹		11		EA NA WA	748
rs191822971^1,2		--	71147840(+)	`TTACAC/TGTATA`	2	--	int¹		0	--	--	--	--
rs1790329^1,2	C,F,A,H,	--	71147883(-)	`TTAGGC/TTTCTC`	2	--	int¹		12		NS EA NA WA	752
rs1790328^1,2	C,F,A,H,	--	71148038(-)	`TCCACC/TTGGCT`	2	--	int¹		10		NA WA EA	510
rs149410705^1,2		--	71148201(+)	`GGCTG-/TCACA GGTGA`	2	--	int¹		0	--	--	--	--
rs146340841^1,2		--	71148247(+)	`AGCCTC/TTCCAC`	2	--	int¹		0	--	--	--	--
rs1790327^1,2	C,F,A,H,	--	71148304(-)	`AGCAGC/AACGGT`	2	--	int¹		22		NS EA NA WA	2338
rs200882823^1,2		--	71148852(+)	`CACCTC/TCTCAC`	2	--	int¹		0	--	--	--	--
rs200157761^1,2		--	71148864(+)	`TGCAGC/TGTGTA`	4	T	syn¹		0	--	--	--	--
rs149974099^1,2	C,	--	71148894(+)	`CAGTCG/TCCCCA`	4	G	syn¹		0	--	--	--	--
rs142808899^1,2	C,F	--	71148914(+)	`CCACCC/TGAAGT`	4	R G	mis¹		1		NA	4552
rs201574502^1,2		--	71148938(+)	`GTCAAC/TGGTCT`	4	I V	mis¹		0	--	--	--	--
rs184297154^1,2	C,	--	71148969(+)	`CAGAAG/TAAGTC`	4	L F	mis¹		0	--	--	--	--
rs148468879^1,2	C,	--	71148981(+)	`ATCACG/ATAGAT`	4	/Y	syn¹		1		EU	1307
rs189115711^1,2		--	71149046(+)	`TGGACC/TTCGGG`	2	--	int¹		0	--	--	--	--
rs142698584^1,2		--	71149048(+)	`GACCTC/TGGGGA`	2	--	int¹		0	--	--	--	--
rs949176^1,2	C,F,A,H,	--	71149069(-)	`GCATCC/TGCGTG`	2	--	int¹		23		NS EA NA WA CSA	2346
rs147611608^1,2		--	71149136(+)	`CCCTGC/TGGCTG`	2	--	int¹		0	--	--	--	--
rs1790326^1,2	C,A,	--	71149137(-)	`CCAGCT/CGCAGG`	2	--	int¹		8		NA WA EA	368
rs142213908^1,2		--	71149203(+)	`ACCCCA/GAGCCC`	2	--	int¹		0	--	--	--	--
rs144287385^1,2		--	71149210(+)	`GCCCAC/TGGCCC`	2	--	int¹		0	--	--	--	--
rs181726776^1,2	C,	--	71149321(+)	`GTCCAC/TAGCTC`	2	--	int¹		0	--	--	--	--
rs147807751^1,2		--	71149351(+)	`CTCTCA/GGGTTC`	2	--	int¹		0	--	--	--	--
rs185517598^1,2		--	71149397(+)	`TTCCGA/GATGCA`	2	--	int¹		0	--	--	--	--
rs190440425^1,2		--	71149777(+)	`TGCTCA/GCCGGC`	2	--	int¹		0	--	--	--	--
rs1792265^1,2	C,F,A,H,	--	71149856(-)	`CCAGAA/GCGTAT`	2	--	int¹		26		NS EA NA WA	2934
rs141246577^1,2		--	71149866(+)	`GCTTGC/TGGGTT`	2	--	int¹		0	--	--	--	--
rs200232012^1,2		--	71149985(+)	`TGCTTC/TGCTGC`	4	A	syn¹		0	--	--	--	--
rs12800^1,2	C,	--	71150021(-)	`GGGATC/TGTCGC`	4	I	syn¹		2		MN EU	1507
rs145284180^1,2	F	--	71150027(+)	`ATCCCG/AGGGCG`	4	/P	syn¹		1		NA	4550
rs148609143^1,2	C,F	--	71150037(+)	`GCCCAT/CTGAAG`	4	/N /S	mis¹		1		NA	4548
rs201556114^1,2		--	71150073(+)	`CGATCC/TGAGGG`	4	Q R	mis¹		0	--	--	--	--
rs200659923^1,2		--	71150098(+)	`CATCAG/TGTAGT`	4	M L	mis¹		0	--	--	--	--
rs74742701^1,2	C,F,	--	71150158(+)	`CATTTA/CGTGGA`	2	--	int¹		3		WA CSA	122
rs28364773^1,2	C,F,	--	71150190(-)	`GTAAGG/ATGGCT`	2	--	int¹		5		WA CSA EA	246
rs150290316^1,2		--	71150200(+)	`CTTAGC/TGAGAG`	2	--	int¹		0	--	--	--	--
rs2852853^1,2	C,F,A,H,	--	71150217(-)	`CCTGGG/ACCAGT`	2	--	int¹		14		MN EA NS NA WA	2022
rs180752981^1,2		--	71150227(+)	`GGTCCA/TAAAGG`	2	--	int¹		0	--	--	--	--
rs1792264^1,2	C,A,	--	71150247(-)	`CCTGCG/ACCGTC`	2	--	int¹		8		MN EA NA WA	1616
rs137910211^1,2		--	71150267(+)	`GCCATA/GAGCCG`	2	--	int¹		0	--	--	--	--
rs185433615^1,2		--	71150271(+)	`TGAGCC/TGCTGG`	2	--	int¹		0	--	--	--	--
rs1790325^1,2	C,F,A,H,	--	71150296(-)	`GACAAA/C/G/T CATTC`	2	--	int¹		27		MN EA NS NA WA	4016
rs149207905^1,2		--	71150301(+)	`CTTGTA/CGGCTG`	2	--	int¹		0	--	--	--	--
rs1790324^1,2	C,F,O,A,H,	--	71150520(-)	`CCAGAA/CCGTAA`	2	--	int¹		32		NA MN EA NS WA	4578
rs143414596^1,2		--	71150538(+)	`GCACAC/TGGTTT`	2	--	int¹		0	--	--	--	--
rs188625544^1,2		--	71150618(+)	`ACAAAC/TGCACC`	2	--	int¹		0	--	--	--	--
rs28364772^1,2	C,F,	--	71150632(-)	`GAAGCC/TGGGCC`	2	--	int¹		6		NA WA CSA EA	245
rs138962442^1,2		--	71150638(+)	`GCTTCC/TAGCAT`	2	--	int¹		0	--	--	--	--
rs181415323^1,2		--	71150686(+)	`CCAATC/TCCCGG`	2	--	int¹		0	--	--	--	--
rs1630498^1,2	C,F,A,H,	--	71150785(-)	`TAGGAT/GTTTCT`	2	--	int¹		23		EA NA MN NS WA	3812
rs186088554^1,2		--	71150799(+)	`TCATGC/TCCAGT`	2	--	int¹		0	--	--	--	--
rs191646698^1,2		--	71150897(+)	`AAGGCC/TAGCCT`	2	--	int¹		0	--	--	--	--
rs183478656^1,2		--	71151029(+)	`TACAAA/CTGTCC`	2	--	int¹		0	--	--	--	--
rs187245133^1,2		--	71151062(+)	`GGTTTA/CTGATG`	2	--	int¹		0	--	--	--	--
rs143309905^1,2		--	71151063(+)	`TTTAT-/GATG GATGG`	2	--	int¹		0	--	--	--	--
rs192034610^1,2		--	71151134(+)	`AGCAGG/TTGGAT`	2	--	int¹		0	--	--	--	--
rs182149123^1,2		--	71151137(+)	`AGGTGA/GATGGA`	2	--	int¹		0	--	--	--	--
rs186796714^1,2		--	71151154(+)	`ATAGGA/CAGGGT`	2	--	int¹		0	--	--	--	--
rs115827380^1,2		--	71151261(+)	`AGGCCG/AGTCAG`	2	--	int¹		1		WA	118
rs117482860^1,2		--	71151283(+)	`ATTGCT/CCAGGC`	2	--	int¹		1		NA	120
rs191663473^1,2		--	71151477(+)	`CAGACA/GGGGTG`	2	--	int¹		0	--	--	--	--
rs10898144^1,2	C,F,A,	--	71151540(+)	`GTGGAA/TGGATG`	2	--	int¹		6		WA NA CSA EA	364
rs182371431^1,2		--	71151591(+)	`GGTGGA/GTGGGT`	2	--	int¹		0	--	--	--	--
rs188010526^1,2		--	71151726(+)	`AATGGA/GTAGGT`	2	--	int¹		0	--	--	--	--
rs146369326^1,2		--	71151836(+)	`CCACTC/GTCCAG`	2	--	int¹		0	--	--	--	--
rs117591152^1,2	F,	--	71151985(+)	`CCCAAG/CCCAGA`	2	--	int¹		1		EA	120
rs115445868^1,2		--	71151988(+)	`AAGCCA/GGAAGT`	2	--	int¹		1		WA	118
rs138288522^1,2	C,	--	71152058(+)	`TGACCA/TGGCCA`	2	--	int¹		0	--	--	--	--
rs145649767^1,2	C,	--	71152145(+)	`TCCAT-/CCCCCTCC`	2	--	int¹		0	--	--	--	--
rs185244824^1,2		--	71152163(+)	`TTCCAC/TGGATT`	2	--	int¹		0	--	--	--	--
rs736894^1,2	C,F,O,A,H,	--	71152258(-)	`TAGCAG/ACGGGT`	2	--	int¹		34		NA EA NS WA EU	4107
rs150603941^1,2	C,	--	71152317(+)	`ATGGCA/GAAGGT`	4	F	syn¹		0	--	--	--	--
rs74909468^1,2	C,F,	--	71152329(+)	`GAGACG/AGCATA`	4	/A	syn¹		2		WA NA	4670
rs115446684^1,2	C,F,	--	71152350(+)	`TTGGCG/ACACCA`	4	/C	syn¹		2		WA NA	4670
rs146839126^1,2	C,	--	71152356(+)	`CACCAC/GAGCAG`	4	L	syn¹		1		NA	4552
rs140648594^1,2	C,F	--	71152377(+)	`TTGTCG/AAAGAT`	4	/F	syn¹		2		NA EU	5875
rs143312232^1,2	C,F	--	71152438(+)	`GGTGCG/CTGAGG`	4	/T /R	mis¹		1		NA	4542
rs949177^1,2	C,F,O,A,H,	--	71152461(+)	`AGGCCA/C/GTTGAT`	6	N K	syn¹ mis¹		27		EA NA MN NS WA CSA EU	7097
rs139713197^1,2	C,	--	71152529(+)	`AACCCA/GCAGTG`	2	--	int¹		0	--	--	--	--
rs149955941^1,2		--	71152719(+)	`CATCTC/TGTTAA`	2	--	int¹		0	--	--	--	--
rs117536118^1,2		--	71152895(+)	`TGGGAT/CGCGGT`	2	--	int¹		1		EA	120
rs190561005^1,2		--	71153048(+)	`TGGGCC/TGAGTG`	2	--	int¹		0	--	--	--	--
rs115021930^1,2	F,	--	71153049(+)	`GGGCCG/AAGTGC`	2	--	int¹		1		WA	118
rs193137657^1,2		--	71153065(+)	`CTGCTA/GTGGGG`	2	--	int¹		0	--	--	--	--
rs201466849^1,2	C,	--	71153321(+)	`AGTCAA/CGGCCC`	4	V L	mis¹		0	--	--	--	--
rs147424205^1,2	C,F,	--	71153322(+)	`GTCACG/AGCCCC`	4	/A	syn¹		2		NA EU	5831
rs201227366^1,2		--	71153361(+)	`AGAAAC/TTTATG`	4	K	syn¹		0	--	--	--	--
rs11603330^1,2	C,F,H,	--	71153459(+)	`GGACGC/AATAGC`	2	--	int¹		24		NA NS EA WA	2488
rs188474369^1,2		--	71153684(+)	`CATAAA/CATTCA`	2	--	int¹		0	--	--	--	--
rs1792223^1,2	C,	--	71153757(+)	`GAGTGC/TAGTGG`	2	--	int¹		13		NA WA CSA EA	377
rs180898058^1,2		--	71154037(+)	`CCACTA/GAGCTT`	2	--	int¹		0	--	--	--	--
rs185547354^1,2		--	71154141(+)	`GTCTTC/TAAGGG`	2	--	int¹		0	--	--	--	--
rs11606033^1,2	C,F,A,H,	--	71154204(+)	`CCCACA/GGTGGG`	2	--	int¹		16		NS EA NA CSA WA	963
rs189645623^1,2		--	71154313(+)	`CACTCA/GAAGGG`	2	--	int¹		0	--	--	--	--
rs117901692^1,2	F,	--	71154408(+)	`CTCCCG/ACCCAG`	2	--	int¹		1		EA	120
rs181698101^1,2		--	71154487(+)	`TCAGCA/CCCACC`	2	--	int¹		0	--	--	--	--
rs147830399^1,2		--	71154492(+)	`ACCACA/CCATGT`	2	--	int¹		0	--	--	--	--
rs186915587^1,2		--	71154617(+)	`ATGGCC/TCTCGC`	2	--	int¹		0	--	--	--	--
rs117488879^1,2	F,	--	71154698(+)	`CAAGGC/TGTGAC`	2	--	int¹		1		EA	120
rs12422045^1,2	C,F,H,	--	71154820(+)	`ATGCCG/ATGAAG`	2	--	int¹		21		NS EA NA WA	2350
rs148838369^1,2		--	71154836(+)	`TCAAAC/TGCTGA`	2	--	int¹		0	--	--	--	--
rs192249049^1,2	C,	--	71154993(+)	`GGGCAC/TGCTCC`	2	--	int¹		0	--	--	--	--
rs76865413^1,2	C,F,	--	71155005(+)	`CACCTG/TCTGTG`	2	--	int¹		4		CSA WA	123
rs199958080^1,2		--	71155017(+)	`CCCAAC/TCCCAG`	2	--	int¹		0	--	--	--	--
rs150563256^1,2	C,	--	71155071(+)	`CTGGGC/TGGCTT`	4	T A	mis¹		1		NA	4544
rs4316537^1,2	C,F,A,H,	--	71155129(+)	`TGTCCG/AGTGAC`	4	/T	syn¹		24		MN NA NS EA WA EU	8491
rs183441430^1,2	C,	--	71155138(+)	`ACGATA/GTCCAC`	4	D	syn¹		0	--	--	--	--
rs144512551^1,2	C,F,	--	71155152(+)	`AGGGCC/TAGTCA`	4	S G	mis¹		1		NA	4516
rs1790334^1,2	C,F,O,A,H,	--	71155153(+)	`GGGCCG/AGTCAG`	4	/T	syn¹		33		EA NA MN NS WA CSA EU	7767
rs143999854^1,2	C,F,	--	71155161(+)	`CAGGGC/TGCAGC`	4	T A	mis¹		2		NA EU	5463
rs1044482^1,2	C,F,A,H,	--	71155171(-)	`GACCAA/G/TTACAG`	6	Q H	syn¹ mis¹ ese³		24		MN EA NA NS CSA WA EU	6564
rs140721259^1,2	F	--	71155221(+)	`CAGCAG/ATAGGA`	4	/L	syn¹		1		NA	4420
rs142897396^1,2	C,F	--	71155229(+)	`GGAAGA/GTGACG`	4	T I	mis¹		1		NA	4402
rs150928869^1,2	C,F,	--	71155234(+)	`ATGACG/ACTCGC`	4	/S	syn¹		2		NA EU	5157
rs140748737^1,2	C,	--	71155265(+)	`CCCTGC/TGAGGA`	2	--	int¹		1		EU	381
rs189549129^1,2	C,	--	71155271(+)	`GAGGAC/TGGATG`	2	--	int¹		0	--	--	--	--
rs182246900^1,2		--	71155348(+)	`GAACTA/GTTGCT`	2	--	int¹		0	--	--	--	--
rs188142055^1,2		--	71155541(+)	`AGGCCA/GGTGGT`	2	--	int¹		0	--	--	--	--
rs2851693^1,2	C,F,A,H,	--	71155641(+)	`CCCCCG/AGATGG`	2	--	int¹		17		NS EA NA WA CSA	960
rs192755484^1,2		--	71155748(+)	`AAAGTA/GGAAAA`	2	--	int¹		0	--	--	--	--
rs200334114^1,2		--	71155910(+)	`CACGGC/GCCCAC`	4	A G	mis¹		0	--	--	--	--
rs146867923^1,2	C,F,	--	71155929(+)	`AGATGC/AGGTTC`	4	/A /S	mis¹		1		NA	4552
rs199798127^1,2		--	71155930(+)	`GATGCA/GGTTCT`	4	T	syn¹		0	--	--	--	--
rs139166382^1,2	F	--	71155971(+)	`TTTGGG/CAATGT`	4	/P /A	mis¹		1		NA	4552
rs115595829^1,2	C,F,	--	71155974(+)	`GGGAAT/AGTTGG`	4	/I /F	mis¹		2		WA NA	4670
rs1127869^1,2	C,	--	71155985(-)	`AAAATC/TGCAAC`	4	S L	mis¹		0	--	--	--	--
rs183610891^1,2	C,	--	71156008(+)	`CCCTGC/TAAGAA`	2	--	int¹		0	--	--	--	--
rs145746132^1,2		--	71156123(+)	`TCCCGG/TTACCT`	2	--	int¹		0	--	--	--	--
rs117333869^1,2		--	71156275(+)	`CCCCCC/ACTCTT`	2	--	int¹		1		NA	120
rs188548347^1,2		--	71156415(+)	`GCTTAC/GAGCAC`	2	--	int¹		0	--	--	--	--
rs138418976^1,2		--	71156466(+)	`CCTCCG/TGGGGA`	2	--	int¹		0	--	--	--	--
rs78916434^1,2	C	--	71156655(+)	`TCCTCC/TTCATT`	2	--	int¹		0	--	--	--	--
rs149585709^1,2		--	71156730(+)	`AAGGGG/TAAGAG`	2	--	int¹		0	--	--	--	--
rs192515838^1,2		--	71157005(+)	`TTCTAC/TTCCTA`	2	--	int¹		0	--	--	--	--
rs143312372^1,2		--	71157039(+)	`CAACAC/TAGGAT`	2	--	int¹		0	--	--	--	--
rs184738628^1,2		--	71157198(+)	`AATGAC/TGAATT`	2	--	int¹		0	--	--	--	--
rs148292631^1,2		--	71157244(+)	`TATGTA/GACAGC`	2	--	int¹		0	--	--	--	--
rs118119216^1,2	F,	--	71157289(+)	`ATGCAT/CAGAAA`	2	--	int¹		1		NA	120
rs200163083^1,2	C	--	71157306(+)	`CAAATA/GAAAAA`	2	--	int¹		0	--	--	--	--
rs140583936^1,2		--	71157611(+)	`CTGTCA/GGATGT`	2	--	int¹		0	--	--	--	--
rs189508087^1,2		--	71157630(+)	`GTAGAC/GAGTAT`	2	--	int¹		0	--	--	--	--
rs142898778^1,2		--	71157855(+)	`AGACCA/GTGTCT`	2	--	int¹		0	--	--	--	--
rs147394240^1,2	C,	--	71157866(+)	`CTCTCC/TGGCCC`	2	--	int¹		0	--	--	--	--
rs139168803^1,2		--	71157867(+)	`TCTCCA/GGCCCC`	2	--	int¹		0	--	--	--	--
rs149904394^1,2		--	71157895(+)	`CCTGGA/CGAGTG`	2	--	int¹		0	--	--	--	--
rs191293040^1,2		--	71157932(+)	`ATCAAA/CGTGGA`	2	--	int¹		0	--	--	--	--
rs115042882^1,2	F,	--	71157971(+)	`GACACG/ACTAGT`	2	--	int¹		1		WA	118
rs144962567^1,2		--	71157986(+)	`CTGATC/TTCAAG`	2	--	int¹		0	--	--	--	--
rs148641929^1,2		--	71158105(+)	`CAGTGA/CCCCCA`	2	--	int¹		0	--	--	--	--
rs143133698^1,2		--	71158202(+)	`ATGGGG/TTGGCA`	2	--	int¹		0	--	--	--	--
rs146666501^1,2		--	71158379(+)	`CAAGAC/TCAAAG`	2	--	int¹		0	--	--	--	--
rs140695598^1,2		--	71158422(+)	`CCCAGC/GAGTCA`	2	--	int¹		0	--	--	--	--
rs184438496^1,2		--	71158592(+)	`CTGTCG/TGTACT`	2	--	int¹		0	--	--	--	--
rs12573951^1,2	C,H,	--	71158672(+)	`TGCCAA/GATAGT`	2	--	ut5¹		8		NS EA NA MN	724
rs145915789^1,2		--	71158683(+)	`TTCACA/CGCAGA`	2	--	ut5¹		0	--	--	--	--
rs189760933^1,2		--	71158809(+)	`AAGACC/TGCAGG`	2	--	int¹		0	--	--	--	--
rs3750997^1,2	C,F,A,H,	--	71158841(-)	`TGAGCT/GTCTGC`	2	--	int¹		29		EA NS NA CSA WA	4375
rs181433660^1,2		--	71158855(+)	`CCCACA/TGTAGG`	2	--	int¹		0	--	--	--	--
rs185270746^1,2		--	71159266(+)	`CTGCTA/CACCTG`	2	--	int¹		0	--	--	--	--
rs141057811^1,2		--	71159399(+)	`CTGCTA/CCACGC`	2	--	ut5¹		0	--	--	--	--
rs4944946^1,2	C,F,	--	71159429(+)	`GGTCGA/C/GAGTCA`	4	--	ut5¹		10		MN EA NA CSA WA	1620
rs189800444^1,2		--	71159713(+)	`CGTGGA/CGGAGT`	2	--	us2k¹		0	--	--	--	--
rs28364617^1,2	C,	--	71159764(-)	`CGATGA/C/TTCCAG`	2	--	us2k¹		11		MN EA NA CSA WA	1621
rs150214555^1,2		--	71160200(+)	`GGGTAA/GCAGGC`	2	--	us2k¹		0	--	--	--	--
rs181573487^1,2		--	71160211(+)	`CTTACA/TGTCAG`	2	--	us2k¹		0	--	--	--	--
rs186115769^1,2		--	71160249(+)	`CCCTCA/GGAGAG`	2	--	us2k¹		0	--	--	--	--
rs138772403^1,2		--	71160324(+)	`TGAACA/GTAAAG`	2	--	us2k¹		0	--	--	--	--
rs4944949^1,2	C,A,	--	71160395(+)	`CCTCTG/CTGTTT`	2	--	us2k¹		8		NA WA EA	368
rs190968968^1,2		--	71160606(+)	`GCCCTG/TTACAG`	2	--	us2k¹		0	--	--	--	--
rs180750483^1,2		--	71160760(+)	`GCTGGA/GACTAC`	2	--	us2k

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DHCR7 Gene

7-dehydrocholesterol reductase

Aliases
for DHCR7 gene

Summaries
for DHCR7 gene

Genomic Views
for DHCR7 gene

Proteins
for DHCR7 gene

Protein Domains /
Families
for DHCR7 gene

Function
for DHCR7 gene

Pathways & Interactions
for DHCR7 gene

Drugs & Compounds
for DHCR7 gene

Transcripts
for DHCR7 gene

Expression
for DHCR7 gene

Orthologs
for DHCR7 gene

Paralogs
for DHCR7 gene

Genomic Variants
for DHCR7 gene

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Export list of displayed genes

DHCR7 Gene

7-dehydrocholesterol reductase

Aliasesfor DHCR7 gene

Summariesfor DHCR7 gene

Genomic Viewsfor DHCR7 gene

Proteinsfor DHCR7 gene

Protein Domains /Familiesfor DHCR7 gene

Functionfor DHCR7 gene

Pathways & Interactionsfor DHCR7 gene

Drugs & Compoundsfor DHCR7 gene

Transcriptsfor DHCR7 gene

Expression for DHCR7 gene

Orthologsfor DHCR7 gene

Paralogsfor DHCR7 gene

Genomic Variantsfor DHCR7 gene

Aliases
for DHCR7 gene

Summaries
for DHCR7 gene

Genomic Views
for DHCR7 gene

Proteins
for DHCR7 gene

Protein Domains /
Families
for DHCR7 gene

Function
for DHCR7 gene

Pathways & Interactions
for DHCR7 gene

Drugs & Compounds
for DHCR7 gene

Transcripts
for DHCR7 gene

Expression
for DHCR7 gene

Orthologs
for DHCR7 gene

Paralogs
for DHCR7 gene

Genomic Variants
for DHCR7 gene