AKR1D1 (aldo-keto reductase family 1 member D1)

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Gene: AKR1D1 (aldo-keto reductase family 1 member D1) Homo sapiens

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Symbol:

AKR1D1

Name:

aldo-keto reductase family 1 member D1

RGD ID:

736637

HGNC Page

HGNC:388

Description:

Predicted to enable aldose reductase (NADPH) activity; ketosteroid monooxygenase activity; and steroid dehydrogenase activity. Involved in several processes, including C21-steroid hormone metabolic process; androgen metabolic process; and cholesterol catabolic process. Acts upstream of or within bile acid biosynthetic process. Located in cytosol. Implicated in congenital bile acid synthesis defect 2.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

3-oxo-5-beta-steroid 4-dehydrogenase; 3o5bred; aldo-keto reductase family 1, member D1; CBAS2; delta 4-3-ketosteroid-5-beta-reductase; delta(4)-3-ketosteroid 5-beta-reductase; delta(4)-3-oxosteroid 5-beta-reductase; SRD5B1; steroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1)

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

AKR1D1P1

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	138,076,459 - 138,118,305 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	138,002,324 - 138,118,305 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	137,761,205 - 137,803,051 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	137,411,736 - 137,453,590 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	7	137,218,450 - 137,260,305	NCBI
Celera	7	132,499,985 - 132,541,839 (+)	NCBI		Celera
Cytogenetic Map	7	q33	NCBI
HuRef	7	132,069,181 - 132,111,033 (+)	NCBI		HuRef
CHM1_1	7	137,694,698 - 137,736,587 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	7	139,311,690 - 139,427,796 (+)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	137,106,397 - 137,148,256 (+)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

congenital bile acid synthesis defect (IAGP)

congenital bile acid synthesis defect 2 (EXP,IAGP)

genetic disease (IAGP)

hemochromatosis (EXP)

pleomorphic xanthoastrocytoma (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,1-dichloroethene (ISO)

17beta-estradiol (EXP,ISO)

17beta-hydroxy-5alpha-androstan-3-one (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (EXP,ISO)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2,4-dibromophenyl 2,4,5-tribromophenyl ether (ISO)

3,3',4,4',5-pentachlorobiphenyl (EXP,ISO)

3-chloropropane-1,2-diol (ISO)

3alpha-hydroxy-5beta-androstan-17-one (ISO)

3H-1,2-dithiole-3-thione (ISO)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (EXP,ISO)

5-Dihydrocortisol (ISO)

5alpha-pregnane-3,20-dione (EXP,ISO)

7alpha-hydroxycholest-4-en-3-one (EXP)

acetamide (ISO)

actinomycin D (EXP)

aflatoxin B1 (EXP,ISO)

Aflatoxin B2 alpha (EXP)

aldosterone (EXP)

ammonium chloride (ISO)

androst-4-ene-3,17-dione (EXP,ISO)

androstane-3,17-dione (ISO)

atazanavir sulfate (EXP)

azathioprine (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[e]pyrene (EXP)

beta-naphthoflavone (EXP)

bisphenol A (EXP,ISO)

bisphenol F (ISO)

butan-1-ol (EXP)

cadmium atom (EXP)

carbon nanotube (ISO)

cefaloridine (ISO)

chenodeoxycholic acid (EXP)

chloropicrin (EXP)

chlorpyrifos (ISO)

cholest-4-en-3-one (EXP)

choline (ISO)

cisplatin (EXP)

cobalt dichloride (ISO)

cocaine (ISO)

copper(II) sulfate (EXP)

corticosterone (EXP)

cortisol (EXP,ISO)

cortisone (EXP)

coumarin (ISO)

cyclosporin A (EXP,ISO)

decabromodiphenyl ether (ISO)

deoxycholic acid (EXP)

dicrotophos (EXP)

endosulfan (ISO)

ethanol (ISO)

ethyl methanesulfonate (EXP)

flutamide (ISO)

formaldehyde (EXP)

gentamycin (ISO)

glutathione (ISO)

glycochenodeoxycholic acid (EXP)

glycocholic acid (EXP)

glycodeoxycholic acid (EXP)

inulin (ISO)

iodide salt (ISO)

ivermectin (EXP)

Lasiocarpine (EXP)

limonene (ISO)

lipopolysaccharide (EXP)

metacetamol (ISO)

methapyrilene (EXP,ISO)

methyl methanesulfonate (EXP)

methylmercury chloride (EXP)

Muraglitazar (ISO)

N-nitrosodiethylamine (ISO)

NADP zwitterion (EXP)

NADP(+) (EXP)

nefazodone (EXP,ISO)

nickel dichloride (ISO)

nitrofen (ISO)

Nutlin-3 (EXP)

O-methyleugenol (EXP)

obeticholic acid (EXP)

paracetamol (EXP,ISO)

perfluorooctane-1-sulfonic acid (ISO)

perfluorooctanoic acid (ISO)

phenobarbital (EXP,ISO)

pirinixic acid (ISO)

pregnenolone 16alpha-carbonitrile (ISO)

progesterone (EXP,ISO)

propiconazole (ISO)

Propiverine (ISO)

quercetin (EXP)

rotenone (EXP)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

simvastatin (ISO)

sodium arsenite (EXP,ISO)

sodium dichromate (ISO)

Sunset Yellow FCF (EXP)

tartrazine (EXP)

tauroursodeoxycholic acid (ISO)

testosterone (EXP,ISO)

tetrachloromethane (ISO)

tetracycline (ISO)

thioacetamide (ISO)

tolcapone (ISO)

troglitazone (ISO)

urethane (EXP)

valproic acid (EXP,ISO)

vancomycin (ISO)

vinclozolin (ISO)

XL147 (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

androgen metabolic process (IBA,IDA)

bile acid biosynthetic process (IDA,IEA,TAS)

bile acid catabolic process (IEA)

C21-steroid hormone metabolic process (IDA)

cholesterol catabolic process (IDA)

digestion (IDA)

lipid catabolic process (IEA)

Cellular Component

cytoplasm (IEA)

cytosol (IBA,IDA,TAS)

Molecular Function

3-oxo-5-beta-steroid 4-dehydrogenase activity (IEA)

aldo-keto reductase (NADPH) activity (TAS)

aldose reductase (NADPH) activity (IBA)

Delta4-3-oxosteroid 5beta-reductase activity (IEA)

ketosteroid monooxygenase activity (IBA)

oxidoreductase activity (IEA)

protein binding (IPI)

steroid binding (TAS)

steroid dehydrogenase activity (IBA)

Molecular Pathway Annotations Click to see Annotation Detail View

11-beta-hydroxylase deficiency pathway (EXP)

17-alpha-hydroxylase deficiency pathway (EXP)

21-alpha-hydroxylase deficiency pathway (EXP)

apparent mineralocorticoid excess syndrome pathway (EXP)

bile acid biosynthetic pathway (EXP,IEA)

cerebrotendinous xanthomatosis pathway (EXP)

congenital bile acid synthesis defect pathway (EXP)

familial hypercholanemia pathway (EXP)

lipoid congenital adrenal hyperplasia pathway (EXP)

primary bile acid biosynthetic pathway (IEA)

steroid hormone biosynthetic pathway (EXP,IEA)

Zellweger syndrome pathway (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal circulating enzyme concentration or activity (IAGP)

Abnormal intrahepatic bile duct morphology (IAGP)

Abnormal serum bile acid concentration (IAGP)

Abnormality of the coagulation cascade (IAGP)

Autosomal recessive inheritance (IAGP)

Cholestasis (IAGP)

Conjugated hyperbilirubinemia (IAGP)

Dark urine (IAGP)

Decreased circulating vitamin E concentration (IAGP)

Diarrhea (IAGP)

Elevated circulating alkaline phosphatase concentration (IAGP)

Elevated circulating hepatic transaminase concentration (IAGP)

Extramedullary hematopoiesis (IAGP)

Failure to thrive (IAGP)

Fat malabsorption (IAGP)

Giant cell hepatitis (IAGP)

Hepatic failure (IAGP)

Hepatic steatosis (IAGP)

Hepatomegaly (IAGP)

Hyperbilirubinemia (IAGP)

Increased circulating lactate dehydrogenase concentration (IAGP)

Intrahepatic cholestasis (IAGP)

Jaundice (IAGP)

Neonatal onset (IAGP)

Pleomorphic xanthoastrocytoma (IAGP)

Postnatal growth retardation (IAGP)

Prolonged neonatal jaundice (IAGP)

Prolonged partial thromboplastin time (IAGP)

Prolonged prothrombin time (IAGP)

Renal cyst (IAGP)

Rickets (IAGP)

Splenomegaly (IAGP)

Steatorrhea (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
4.	SMPDB Annotation Import Pipeline	Pipeline to import SMPDB annotations from SMPDB into RGD
5.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
7.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:7508385	PMID:9024384	PMID:10343119	PMID:11329013	PMID:11342103	PMID:12477932	PMID:12690205	PMID:16123077	PMID:16712791	PMID:18407998	PMID:18848863	PMID:19013211
PMID:19075558	PMID:19175828	PMID:19212619	PMID:20379614	PMID:20522910	PMID:20800085	PMID:21185810	PMID:21255593	PMID:21873635	PMID:22437839	PMID:23092984	PMID:23376485
PMID:23679950	PMID:23704699	PMID:24189185	PMID:24513054	PMID:24816252	PMID:24894951	PMID:25500266	PMID:26186194	PMID:26418565	PMID:28514442	PMID:28697823	PMID:29024782
PMID:30769091	PMID:31259734	PMID:31330134	PMID:31337596	PMID:33493134	PMID:33502336	PMID:33961781	PMID:36108118	PMID:36739965

Genomics

Comparative Map Data

AKR1D1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	7	138,076,459 - 138,118,305 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	7	138,002,324 - 138,118,305 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	7	137,761,205 - 137,803,051 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	137,411,736 - 137,453,590 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	7	137,218,450 - 137,260,305	NCBI
Celera	7	132,499,985 - 132,541,839 (+)	NCBI		Celera
Cytogenetic Map	7	q33	NCBI
HuRef	7	132,069,181 - 132,111,033 (+)	NCBI		HuRef
CHM1_1	7	137,694,698 - 137,736,587 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	7	139,311,690 - 139,427,796 (+)	NCBI		T2T-CHM13v2.0
CRA_TCAGchr7v2	7	137,106,397 - 137,148,256 (+)	NCBI

Akr1d1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	37,506,913 - 37,551,856 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	37,507,108 - 37,545,750 (+)	Ensembl		GRCm39 Ensembl
GRCm38	6	37,529,978 - 37,574,921 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	37,530,173 - 37,568,815 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	37,480,173 - 37,518,815 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	37,459,781 - 37,498,003 (+)	NCBI		MGSCv36	mm8
Celera	6	37,517,252 - 37,556,030 (+)	NCBI		Celera
Cytogenetic Map	6	B1	NCBI
cM Map	6	16.44	NCBI

Akr1d1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	4	67,121,288 - 67,154,543 (+)	NCBI		GRCr8
mRatBN7.2	4	66,154,246 - 66,187,505 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	66,154,248 - 66,186,372 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	4	71,096,251 - 71,129,493 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	4	67,017,336 - 67,050,578 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	4	65,407,781 - 65,440,769 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	4	65,110,706 - 65,143,930 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	65,110,746 - 65,143,941 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	64,933,143 - 64,965,930 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	64,972,908 - 65,005,896 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	4	65,249,037 - 65,282,026 (+)	NCBI
Celera	4	61,186,796 - 61,219,854 (+)	NCBI		Celera
Cytogenetic Map	4	q23	NCBI

Akr1d1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955494	4,799,450 - 4,854,696 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955494	4,799,706 - 4,856,100 (-)	NCBI	ChiLan1.0	ChiLan1.0

AKR1D1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	6	174,889,295 - 174,931,548 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	7	26,899,547 - 26,941,800 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	7	130,023,017 - 130,076,397 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	7	142,514,914 - 142,568,052 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	7	142,525,467 - 142,571,331 (+)	Ensembl	panpan1.1		panPan2

AKR1D1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	16	1,499,251 - 1,583,965 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	16	11,172,153 - 11,677,722 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	16	10,254,191 - 10,279,758 (-)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	16	10,201,202 - 10,250,574 (-)	NCBI		UMICH_Zoey_3.1

Akr1d1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405118	16,696,579 - 16,727,564 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936592	2,491,681 - 2,522,796 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936592	2,486,219 - 2,522,796 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

AKR1D1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	18	11,416,068 - 11,531,726 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	18	11,416,065 - 11,532,846 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	18	12,091,380 - 12,134,240 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

AKR1D1
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	21	106,705,197 - 106,822,194 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	21	106,780,339 - 106,822,696 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666072	3,643,056 - 3,684,108 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Akr1d1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624765	18,406,758 - 18,475,918 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624765	18,406,859 - 18,474,905 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in AKR1D1
184 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000005705]\|not provided [RCV000426000]	Chr7:138106621 [GRCh38] Chr7:137791367 [GRCh37] Chr7:7q33	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
AKR1D1, 1-BP DEL, 511T	deletion	Congenital bile acid synthesis defect 2 [RCV000005706]	Chr7:7q32-q33	pathogenic
NM_005989.4(AKR1D1):c.316C>T (p.Leu106Phe)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000005707]	Chr7:138091822 [GRCh38] Chr7:137776568 [GRCh37] Chr7:7q33	pathogenic
NM_005989.4(AKR1D1):c.398C>G (p.Pro133Arg)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000005708]\|not provided [RCV002512813]	Chr7:138097885 [GRCh38] Chr7:137782631 [GRCh37] Chr7:7q33	pathogenic\|likely pathogenic\|uncertain significance
NM_005989.4(AKR1D1):c.781C>T (p.Arg261Cys)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000005709]	Chr7:138107506 [GRCh38] Chr7:137792252 [GRCh37] Chr7:7q33	pathogenic
NM_005989.4(AKR1D1):c.48C>T (p.Asn16=)	single nucleotide variant	not provided [RCV000729704]	Chr7:138076566 [GRCh38] Chr7:137761312 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.906G>A (p.Leu302=)	single nucleotide variant	not provided [RCV000729454]	Chr7:138113740 [GRCh38] Chr7:137798486 [GRCh37] Chr7:7q33	uncertain significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	copy number gain	See cases [RCV000050876]	Chr7:129310166..159282390 [GRCh38] Chr7:128950007..159075079 [GRCh37] Chr7:128737243..158767840 [NCBI36] Chr7:7q32.1-36.3	pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	copy number gain	See cases [RCV000051101]	Chr7:132850196..159325876 [GRCh38] Chr7:132534956..159118566 [GRCh37] Chr7:132185496..158811327 [NCBI36] Chr7:7q32.3-36.3	pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1	copy number loss	See cases [RCV000052250]	Chr7:53985..159282531 [GRCh38] Chr7:53985..159075220 [GRCh37] Chr7:149068..158767981 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	copy number gain	See cases [RCV000053576]	Chr7:136309982..159307523 [GRCh38] Chr7:135994730..159100212 [GRCh37] Chr7:135645270..158792973 [NCBI36] Chr7:7q33-36.3	pathogenic
GRCh38/hg38 7q32.3-36.1(chr7:132023155-149309794)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054172]\|See cases [RCV000054172]	Chr7:132023155..149309794 [GRCh38] Chr7:131707914..149006885 [GRCh37] Chr7:131358454..148637818 [NCBI36] Chr7:7q32.3-36.1	pathogenic
GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	copy number loss	See cases [RCV000054173]	Chr7:135414108..144140219 [GRCh38] Chr7:135098857..143837312 [GRCh37] Chr7:134749397..143468245 [NCBI36] Chr7:7q33-35	pathogenic
GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1	copy number loss	See cases [RCV000054174]	Chr7:137741740..139688885 [GRCh38] Chr7:137426486..139373631 [GRCh37] Chr7:137077026..139024171 [NCBI36] Chr7:7q33-34	pathogenic
NM_005989.3(AKR1D1):c.224G>A (p.Gly75Glu)	single nucleotide variant	Malignant melanoma [RCV000061568]	Chr7:138088731 [GRCh38] Chr7:137773477 [GRCh37] Chr7:137424017 [NCBI36] Chr7:7q33	not provided
NM_005989.4(AKR1D1):c.10A>G (p.Ser4Gly)	single nucleotide variant	not provided [RCV000173392]	Chr7:138076528 [GRCh38] Chr7:137761274 [GRCh37] Chr7:7q33	uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	copy number loss	See cases [RCV000135401]	Chr7:54185..159282390 [GRCh38] Chr7:54185..159075079 [GRCh37] Chr7:149268..158767840 [NCBI36] Chr7:7p22.3-q36.3	pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	copy number gain	See cases [RCV000136592]	Chr7:137751200..154815582 [GRCh38] Chr7:137435946..154607292 [GRCh37] Chr7:137086486..154238225 [NCBI36] Chr7:7q33-36.2	pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	copy number gain	See cases [RCV000136717]	Chr7:97419852..158923762 [GRCh38] Chr7:97049164..158716453 [GRCh37] Chr7:96887100..158409214 [NCBI36] Chr7:7q21.3-36.3	pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	copy number loss	See cases [RCV000138120]	Chr7:134666829..158591882 [GRCh38] Chr7:134351581..158384574 [GRCh37] Chr7:134002121..158077335 [NCBI36] Chr7:7q33-36.3	pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	copy number gain	See cases [RCV000138847]	Chr7:121863759..159335865 [GRCh38] Chr7:121503813..159128555 [GRCh37] Chr7:121291049..158821316 [NCBI36] Chr7:7q31.32-36.3	pathogenic
GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	copy number loss	See cases [RCV000138903]	Chr7:135017687..148807400 [GRCh38] Chr7:134702438..148504492 [GRCh37] Chr7:134352978..148135425 [NCBI36] Chr7:7q33-36.1	pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	copy number gain	See cases [RCV000139654]	Chr7:132444095..159335866 [GRCh38] Chr7:132128854..159128556 [GRCh37] Chr7:131779394..158821317 [NCBI36] Chr7:7q32.3-36.3	pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	copy number gain	See cases [RCV000141413]	Chr7:115459015..159325817 [GRCh38] Chr7:115099069..159118507 [GRCh37] Chr7:114886305..158811268 [NCBI36] Chr7:7q31.2-36.3	pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	copy number gain	See cases [RCV000142802]	Chr7:131228764..159335866 [GRCh38] Chr7:130913523..159128556 [GRCh37] Chr7:130564063..158821317 [NCBI36] Chr7:7q32.3-36.3	pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	copy number gain	See cases [RCV000143754]	Chr7:131171478..159327017 [GRCh38] Chr7:130856237..159119707 [GRCh37] Chr7:130506777..158812468 [NCBI36] Chr7:7q32.3-36.3	pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	copy number gain	See cases [RCV000143707]	Chr7:132438072..159327017 [GRCh38] Chr7:132122831..159119707 [GRCh37] Chr7:131773371..158812468 [NCBI36] Chr7:7q32.3-36.3	pathogenic
NM_005989.4(AKR1D1):c.380C>T (p.Pro127Leu)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000303652]\|not provided [RCV000292395]	Chr7:138097867 [GRCh38] Chr7:137782613 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.261+1G>T	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000778822]\|not provided [RCV000354707]	Chr7:138088769 [GRCh38] Chr7:137773515 [GRCh37] Chr7:7q33	likely pathogenic\|uncertain significance
NM_005989.4(AKR1D1):c.477C>T (p.Asp159=)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001158878]\|not provided [RCV000965764]\|not specified [RCV000251170]	Chr7:138105327 [GRCh38] Chr7:137790073 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.*5A>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000307370]\|not provided [RCV001711706]\|not specified [RCV000246624]	Chr7:138116667 [GRCh38] Chr7:137801413 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.856-10G>A	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000268562]\|not provided [RCV001689857]\|not specified [RCV000247754]	Chr7:138113680 [GRCh38] Chr7:137798426 [GRCh37] Chr7:7q33	benign\|likely benign
NM_005989.4(AKR1D1):c.60C>T (p.Ile20=)	single nucleotide variant	not provided [RCV000725657]\|not specified [RCV000243173]	Chr7:138076578 [GRCh38] Chr7:137761324 [GRCh37] Chr7:7q33	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005989.4(AKR1D1):c.*1185G>A	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000283939]	Chr7:138117847 [GRCh38] Chr7:137802593 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1484T>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000321244]	Chr7:138118146 [GRCh38] Chr7:137802892 [GRCh37] Chr7:7q33	benign\|likely benign
NM_005989.4(AKR1D1):c.*1343C>T	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000394951]	Chr7:138118005 [GRCh38] Chr7:137802751 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1265A>G	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000345109]	Chr7:138117927 [GRCh38] Chr7:137802673 [GRCh37] Chr7:7q33	benign\|likely benign
NM_005989.4(AKR1D1):c.*1083T>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000396826]	Chr7:138117745 [GRCh38] Chr7:137802491 [GRCh37] Chr7:7q33	likely benign
NM_005989.4(AKR1D1):c.*1151A>G	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000316115]	Chr7:138117813 [GRCh38] Chr7:137802559 [GRCh37] Chr7:7q33	likely benign\|uncertain significance
NM_005989.4(AKR1D1):c.*1311A>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000371055]	Chr7:138117973 [GRCh38] Chr7:137802719 [GRCh37] Chr7:7q33	benign\|likely benign
NM_005989.4(AKR1D1):c.*1363A>G	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000355870]	Chr7:138118025 [GRCh38] Chr7:137802771 [GRCh37] Chr7:7q33	benign\|uncertain significance
NM_005989.4(AKR1D1):c.*1219C>T	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000287835]	Chr7:138117881 [GRCh38] Chr7:137802627 [GRCh37] Chr7:7q33	likely benign\|uncertain significance
NM_005989.4(AKR1D1):c.*1282G>A	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000349038]	Chr7:138117944 [GRCh38] Chr7:137802690 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*507G>A	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000374596]	Chr7:138117169 [GRCh38] Chr7:138117169..138117170 [GRCh38] Chr7:137801915 [GRCh37] Chr7:137801915..137801916 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.262-7C>A	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000338816]\|not provided [RCV000904405]\|not specified [RCV000730324]	Chr7:138091761 [GRCh38] Chr7:137776507 [GRCh37] Chr7:7q33	benign\|likely benign\|uncertain significance
NM_005989.4(AKR1D1):c.*48C>T	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000272100]	Chr7:138116710 [GRCh38] Chr7:137801456 [GRCh37] Chr7:7q33	benign\|uncertain significance
NM_005989.4(AKR1D1):c.*58G>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000328447]	Chr7:138116720 [GRCh38] Chr7:137801466 [GRCh37] Chr7:7q33	likely benign\|uncertain significance
NM_005989.4(AKR1D1):c.*1173A>T	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000376083]	Chr7:138117835 [GRCh38] Chr7:137802581 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1093C>G	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000273748]	Chr7:138117755 [GRCh38] Chr7:137802501 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1085C>T	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000308102]	Chr7:138117747 [GRCh38] Chr7:137802493 [GRCh37] Chr7:7q33	benign\|uncertain significance
NM_005989.4(AKR1D1):c.*1274A>G	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000291286]	Chr7:138117936 [GRCh38] Chr7:137802682 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.*1153C>G	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000354593]	Chr7:138117815 [GRCh38] Chr7:137802561 [GRCh37] Chr7:7q33	benign\|likely benign
NM_005989.4(AKR1D1):c.*1214A>G	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000379632]	Chr7:138117876 [GRCh38] Chr7:137802622 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1288A>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000402846]	Chr7:138117950 [GRCh38] Chr7:137802696 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1270T>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000404810]	Chr7:138117932 [GRCh38] Chr7:137802678 [GRCh37] Chr7:7q33	likely benign\|uncertain significance
NM_005989.4(AKR1D1):c.*914C>T	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000405037]	Chr7:138117576 [GRCh38] Chr7:137802322 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1149A>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000277213]	Chr7:138117811 [GRCh38] Chr7:137802557 [GRCh37] Chr7:7q33	likely benign\|uncertain significance
NM_005989.4(AKR1D1):c.*1095T>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000312471]	Chr7:138117757 [GRCh38] Chr7:137802503 [GRCh37] Chr7:7q33	benign\|likely benign
NM_005989.4(AKR1D1):c.*417A>G	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000336351]	Chr7:138117079 [GRCh38] Chr7:137801825 [GRCh37] Chr7:7q33	likely benign\|uncertain significance
NM_005989.4(AKR1D1):c.*197G>T	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000385300]	Chr7:138116859 [GRCh38] Chr7:137801605 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1153C>T	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000262112]	Chr7:138117815 [GRCh38] Chr7:137802561 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*373G>A	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000278986]	Chr7:138117035 [GRCh38] Chr7:137801781 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.446C>T (p.Ala149Val)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000360689]	Chr7:138097933 [GRCh38] Chr7:137782679 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1417C>T	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000263468]	Chr7:138118079 [GRCh38] Chr7:137802825 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.*1139G>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000369455]	Chr7:138117801 [GRCh38] Chr7:137802547 [GRCh37] Chr7:7q33	benign\|likely benign
NM_005989.4(AKR1D1):c.*36C>T	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000364266]\|not provided [RCV001707680]	Chr7:138116698 [GRCh38] Chr7:138116698..138116699 [GRCh38] Chr7:137801444 [GRCh37] Chr7:137801444..137801445 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.*362A>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000388952]	Chr7:138117024 [GRCh38] Chr7:137801770 [GRCh37] Chr7:7q33	benign\|likely benign
NM_005989.4(AKR1D1):c.*1372dup	duplication	Congenital bile acid synthesis defect [RCV000298664]	Chr7:138118024..138118025 [GRCh38] Chr7:137802770..137802771 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*879T>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000282399]	Chr7:138117541 [GRCh38] Chr7:137802287 [GRCh37] Chr7:7q33	benign\|likely benign
NM_005989.4(AKR1D1):c.21T>G (p.Ser7Arg)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000299893]	Chr7:138076539 [GRCh38] Chr7:137761285 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1163T>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000319564]	Chr7:138117825 [GRCh38] Chr7:137802571 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.*1082G>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000343014]	Chr7:138117744 [GRCh38] Chr7:137802490 [GRCh37] Chr7:7q33	benign\|likely benign
NM_005989.4(AKR1D1):c.*294C>A	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000274577]	Chr7:138116956 [GRCh38] Chr7:137801702 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.558A>C (p.Lys186Asn)	single nucleotide variant	not provided [RCV000317434]	Chr7:138105408 [GRCh38] Chr7:137790154 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.378+6T>G	single nucleotide variant	not provided [RCV000330839]	Chr7:138091890 [GRCh38] Chr7:137776636 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.855+10T>C	single nucleotide variant	not provided [RCV000594098]	Chr7:138107590 [GRCh38] Chr7:137792336 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.242A>T (p.Asp81Val)	single nucleotide variant	not provided [RCV000597002]	Chr7:138088749 [GRCh38] Chr7:137773495 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*944T>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000304719]	Chr7:138117606 [GRCh38] Chr7:137802352 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*298A>G	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000332045]	Chr7:138116960 [GRCh38] Chr7:137801706 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1091C>T	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000365102]	Chr7:138117753 [GRCh38] Chr7:137802499 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1199T>A	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000322664]	Chr7:138117861 [GRCh38] Chr7:137802607 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*897T>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000339760]	Chr7:138117559 [GRCh38] Chr7:137802305 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1298A>G	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000314083]	Chr7:138117960 [GRCh38] Chr7:137802706 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.346C>G (p.Leu116Val)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000398162]	Chr7:138091852 [GRCh38] Chr7:137776598 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.796C>T (p.Arg266Ter)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001169922]	Chr7:138107521 [GRCh38] Chr7:137792267 [GRCh37] Chr7:7q33	pathogenic\|likely pathogenic
NM_005989.4(AKR1D1):c.356T>C (p.Ile119Thr)	single nucleotide variant	not provided [RCV000593895]	Chr7:138091862 [GRCh38] Chr7:137776608 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.542A>G (p.Asn181Ser)	single nucleotide variant	Inborn genetic diseases [RCV004026986]\|not provided [RCV000730102]	Chr7:138105392 [GRCh38] Chr7:137790138 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.93+1G>T	single nucleotide variant	not provided [RCV000591781]	Chr7:138076612 [GRCh38] Chr7:137761358 [GRCh37] Chr7:7q33	likely pathogenic
NM_005989.4(AKR1D1):c.754A>G (p.Asn252Asp)	single nucleotide variant	not provided [RCV000592769]	Chr7:138107479 [GRCh38] Chr7:137792225 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.396C>T (p.Tyr132=)	single nucleotide variant	AKR1D1-related disorder [RCV003980080]\|not provided [RCV000593366]	Chr7:138097883 [GRCh38] Chr7:137782629 [GRCh37] Chr7:7q33	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005989.4(AKR1D1):c.580-1G>A	single nucleotide variant	AKR1D1-related disorder [RCV003962710]\|not provided [RCV000593393]	Chr7:138106607 [GRCh38] Chr7:137791353 [GRCh37] Chr7:7q33	likely pathogenic
NM_005989.4(AKR1D1):c.49A>G (p.Ser17Gly)	single nucleotide variant	AKR1D1-related disorder [RCV003915728]\|Inborn genetic diseases [RCV002532551]\|not provided [RCV000593671]	Chr7:138076567 [GRCh38] Chr7:137761313 [GRCh37] Chr7:7q33	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_005989.4(AKR1D1):c.267G>A (p.Trp89Ter)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001169872]	Chr7:138091773 [GRCh38] Chr7:137776519 [GRCh37] Chr7:7q33	pathogenic
NM_005989.4(AKR1D1):c.336T>C (p.Asp112=)	single nucleotide variant	not provided [RCV000730194]	Chr7:138091842 [GRCh38] Chr7:137776588 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.345T>A (p.Asp115Glu)	single nucleotide variant	not provided [RCV000729965]	Chr7:138091851 [GRCh38] Chr7:137776597 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.92C>T (p.Ser31Leu)	single nucleotide variant	not provided [RCV000415735]	Chr7:138076610 [GRCh38] Chr7:137761356 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.24C>T (p.His8=)	single nucleotide variant	AKR1D1-related disorder [RCV003918210]\|not provided [RCV000731948]	Chr7:138076542 [GRCh38] Chr7:137761288 [GRCh37] Chr7:7q33	likely benign\|uncertain significance
NM_005989.4(AKR1D1):c.233G>A (p.Arg78Gln)	single nucleotide variant	AKR1D1-related disorder [RCV003980371]\|not provided [RCV000729566]	Chr7:138088740 [GRCh38] Chr7:137773486 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.723T>C (p.Asp241=)	single nucleotide variant	not provided [RCV000732099]	Chr7:138107448 [GRCh38] Chr7:137792194 [GRCh37] Chr7:7q33	conflicting interpretations of pathogenicity\|uncertain significance
NM_005989.4(AKR1D1):c.94-8C>G	single nucleotide variant	not provided [RCV000730029]	Chr7:138088593 [GRCh38] Chr7:137773339 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.332T>C (p.Leu111Pro)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000987976]\|not provided [RCV000730130]	Chr7:138091838 [GRCh38] Chr7:137776584 [GRCh37] Chr7:7q33	likely pathogenic\|uncertain significance
NM_005989.4(AKR1D1):c.494C>A (p.Ser165Tyr)	single nucleotide variant	not provided [RCV000728862]	Chr7:138105344 [GRCh38] Chr7:137790090 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.149G>A (p.Arg50Gln)	single nucleotide variant	not provided [RCV000734786]	Chr7:138088656 [GRCh38] Chr7:137773402 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.543C>G (p.Asn181Lys)	single nucleotide variant	not provided [RCV000729785]	Chr7:138105393 [GRCh38] Chr7:137790139 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.329A>C (p.Gln110Pro)	single nucleotide variant	Inborn genetic diseases [RCV002535293]\|not provided [RCV000732815]	Chr7:138091835 [GRCh38] Chr7:137776581 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.232C>T (p.Arg78Trp)	single nucleotide variant	not provided [RCV000594963]	Chr7:138088739 [GRCh38] Chr7:137773485 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.843del (p.Glu282fs)	deletion	not provided [RCV000731813]	Chr7:138107566 [GRCh38] Chr7:137792312 [GRCh37] Chr7:7q33	likely pathogenic
NM_005989.4(AKR1D1):c.836G>A (p.Arg279Lys)	single nucleotide variant	not provided [RCV000729312]	Chr7:138107561 [GRCh38] Chr7:137792307 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.583G>T (p.Glu195Ter)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000779528]\|not provided [RCV000730897]	Chr7:138106611 [GRCh38] Chr7:137791357 [GRCh37] Chr7:7q33	pathogenic\|uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3	copy number gain	See cases [RCV000449264]	Chr7:137589621..159119707 [GRCh37] Chr7:7q33-36.3	pathogenic
TMEM106B-BRAF fusion	deletion	Pleomorphic xanthoastrocytoma [RCV000454357]	Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1	copy number loss	See cases [RCV000446044]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3	copy number gain	See cases [RCV000447709]	Chr7:98969247..159119707 [GRCh37] Chr7:7q22.1-36.3	pathogenic
GRCh37/hg19 7q32.3-34(chr7:131642114-139107211)x1	copy number loss	See cases [RCV000448552]	Chr7:131642114..139107211 [GRCh37] Chr7:7q32.3-34	pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1	copy number loss	See cases [RCV000448836]	Chr7:133799185..159119707 [GRCh37] Chr7:7q33-36.3	pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)x1	copy number loss	See cases [RCV000447722]	Chr7:127295698..139524358 [GRCh37] Chr7:7q32.1-34	pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3	copy number gain	See cases [RCV000447956]	Chr7:128276078..159119707 [GRCh37] Chr7:7q32.1-36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	copy number gain	See cases [RCV000510686]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	copy number gain	See cases [RCV000510490]	Chr7:136758593..159119707 [GRCh37] Chr7:7q33-36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	copy number gain	See cases [RCV000511549]	Chr7:43361..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_005989.4(AKR1D1):c.980G>T (p.Ter327Leu)	single nucleotide variant	not provided [RCV000595795]	Chr7:138116661 [GRCh38] Chr7:137801407 [GRCh37] Chr7:7q33	likely pathogenic\|uncertain significance
NM_005989.4(AKR1D1):c.596A>G (p.Tyr199Cys)	single nucleotide variant	not provided [RCV000597521]	Chr7:138106624 [GRCh38] Chr7:137791370 [GRCh37] Chr7:7q33	uncertain significance
GRCh37/hg19 7q33-34(chr7:137434852-140349546)x3	copy number gain	See cases [RCV000512176]	Chr7:137434852..140349546 [GRCh37] Chr7:7q33-34	uncertain significance
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	copy number gain	not provided [RCV000682911]	Chr7:98693388..159119707 [GRCh37] Chr7:7q22.1-36.3	pathogenic
GRCh37/hg19 7q33(chr7:133230189-137972605)x1	copy number loss	not provided [RCV000682906]	Chr7:133230189..137972605 [GRCh37] Chr7:7q33	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3	copy number gain	not provided [RCV000746278]	Chr7:10704..159122532 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
Single allele	complex	Renal transitional cell carcinoma [RCV000754611]	Chr7:129367205..140482957 [GRCh37] Chr7:7q32.2-34	likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3	copy number gain	not provided [RCV000746280]	Chr7:44935..159126310 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	copy number gain	not provided [RCV000848126]	Chr7:10365..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_005989.4(AKR1D1):c.689+1G>T	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000779529]	Chr7:138106718 [GRCh38] Chr7:137791464 [GRCh37] Chr7:7q33	uncertain significance
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	copy number gain	not provided [RCV000767558]	Chr7:128312450..159119220 [GRCh37] Chr7:7q32.1-36.3	pathogenic
GRCh37/hg19 7q33-34(chr7:135677938-139810886)x1	copy number loss	not provided [RCV001006019]	Chr7:135677938..139810886 [GRCh37] Chr7:7q33-34	pathogenic
NM_005989.4(AKR1D1):c.940T>C (p.Trp314Arg)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV000985019]	Chr7:138116621 [GRCh38] Chr7:137801367 [GRCh37] Chr7:7q33	likely pathogenic\|uncertain significance
GRCh37/hg19 7q33-34(chr7:137675423-139084024)x1	copy number loss	not provided [RCV000846410]	Chr7:137675423..139084024 [GRCh37] Chr7:7q33-34	uncertain significance
NM_005989.4(AKR1D1):c.*1173A>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001163993]	Chr7:138117835 [GRCh38] Chr7:137802581 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.297C>T (p.Arg99=)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001163792]	Chr7:138091803 [GRCh38] Chr7:137776549 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*432A>G	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001163910]	Chr7:138117094 [GRCh38] Chr7:137801840 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*598G>A	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001163912]	Chr7:138117260 [GRCh38] Chr7:137802006 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*537T>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001163911]\|not provided [RCV003425970]	Chr7:138117199 [GRCh38] Chr7:137801945 [GRCh37] Chr7:7q33	likely benign\|uncertain significance
GRCh37/hg19 7q33(chr7:134648448-137942208)x1	copy number loss	not provided [RCV000849809]	Chr7:134648448..137942208 [GRCh37] Chr7:7q33	uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	copy number loss	See cases [RCV001007432]	Chr7:131414604..159126310 [GRCh37] Chr7:7q32.3-36.3	pathogenic
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	copy number gain	not provided [RCV001005994]	Chr7:109251060..159119707 [GRCh37] Chr7:7q31.1-36.3	pathogenic
NM_005989.4(AKR1D1):c.*1100A>G	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001161970]	Chr7:138117762 [GRCh38] Chr7:137802508 [GRCh37] Chr7:7q33	likely benign
NM_005989.4(AKR1D1):c.*1139G>T	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001161972]	Chr7:138117801 [GRCh38] Chr7:137802547 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*375A>G	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001163595]	Chr7:138117037 [GRCh38] Chr7:137801783 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*421T>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001163596]	Chr7:138117083 [GRCh38] Chr7:137801829 [GRCh37] Chr7:7q33	uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	copy number gain	not provided [RCV000849569]	Chr7:130592554..159119707 [GRCh37] Chr7:7q32.3-36.3	pathogenic
NM_005989.4(AKR1D1):c.642T>C (p.Ile214=)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001158879]	Chr7:138106670 [GRCh38] Chr7:137791416 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*734T>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001158973]	Chr7:138117396 [GRCh38] Chr7:137802142 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*748C>T	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001158974]	Chr7:138117410 [GRCh38] Chr7:137802156 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*886T>G	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001158976]	Chr7:138117548 [GRCh38] Chr7:137802294 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1305C>A	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001160423]\|not provided [RCV004695026]	Chr7:138117967 [GRCh38] Chr7:137802713 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.392T>A (p.Ile131Lys)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001163793]\|Inborn genetic diseases [RCV003163357]	Chr7:138097879 [GRCh38] Chr7:137782625 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.454G>A (p.Glu152Lys)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001163794]	Chr7:138097941 [GRCh38] Chr7:137782687 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.262-91_262-90insG	insertion	not provided [RCV001667371]	Chr7:138091677..138091678 [GRCh38] Chr7:137776423..137776424 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.856-189C>G	single nucleotide variant	not provided [RCV001694572]	Chr7:138113501 [GRCh38] Chr7:137798247 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.689+311A>C	single nucleotide variant	not provided [RCV001715373]	Chr7:138107028 [GRCh38] Chr7:137791774 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.261+293T>A	single nucleotide variant	not provided [RCV001684157]	Chr7:138089061 [GRCh38] Chr7:137773807 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.655T>C (p.Tyr219His)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001158880]	Chr7:138106683 [GRCh38] Chr7:137791429 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.782G>A (p.Arg261His)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001158882]	Chr7:138107507 [GRCh38] Chr7:137792253 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1218G>A	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001159075]	Chr7:138117880 [GRCh38] Chr7:137802626 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*655T>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001163913]	Chr7:138117317 [GRCh38] Chr7:137802063 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*710T>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001163915]	Chr7:138117372 [GRCh38] Chr7:137802118 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.261+74GT[10]	microsatellite	not provided [RCV001540653]	Chr7:138088841..138088842 [GRCh38] Chr7:137773587..137773588 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.261+49T>G	single nucleotide variant	not provided [RCV001689093]	Chr7:138088817 [GRCh38] Chr7:137773563 [GRCh37] Chr7:7q33	benign
GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	copy number gain	Neurodevelopmental disorder [RCV003327609]	Chr7:137463392..159345973 [GRCh38] Chr7:7q33-36.3	pathogenic
NM_005989.4(AKR1D1):c.94-56T>G	single nucleotide variant	not provided [RCV001688954]	Chr7:138088545 [GRCh38] Chr7:137773291 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.855+94A>G	single nucleotide variant	not provided [RCV001619204]	Chr7:138107674 [GRCh38] Chr7:137792420 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.938+75A>T	single nucleotide variant	not provided [RCV001655278]	Chr7:138113847 [GRCh38] Chr7:137798593 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.262-91dup	duplication	not provided [RCV001710335]	Chr7:138091665..138091666 [GRCh38] Chr7:137776411..137776412 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.*1352G>A	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001160425]	Chr7:138118014 [GRCh38] Chr7:137802760 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1124A>G	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001161971]	Chr7:138117786 [GRCh38] Chr7:137802532 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1435G>A	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001162054]	Chr7:138118097 [GRCh38] Chr7:137802843 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.773T>C (p.Ile258Thr)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001158881]\|not specified [RCV004526809]	Chr7:138107498 [GRCh38] Chr7:137792244 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*933T>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001158977]	Chr7:138117595 [GRCh38] Chr7:137802341 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1229G>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001159076]	Chr7:138117891 [GRCh38] Chr7:137802637 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*834T>G	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001158975]	Chr7:138117496 [GRCh38] Chr7:137802242 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1036T>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001160307]	Chr7:138117698 [GRCh38] Chr7:137802444 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1084G>A	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001160308]	Chr7:138117746 [GRCh38] Chr7:137802492 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1086G>A	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001160309]	Chr7:138117748 [GRCh38] Chr7:137802494 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1384T>G	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001160426]	Chr7:138118046 [GRCh38] Chr7:137802792 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.262-33C>T	single nucleotide variant	not provided [RCV001681680]	Chr7:138091735 [GRCh38] Chr7:137776481 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.379-182A>G	single nucleotide variant	not provided [RCV001694303]	Chr7:138097684 [GRCh38] Chr7:137782430 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.*1631A>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001162056]	Chr7:138118293 [GRCh38] Chr7:137803039 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.457-116G>T	single nucleotide variant	not provided [RCV001696495]	Chr7:138105191 [GRCh38] Chr7:137789937 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.*1559A>T	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001162055]	Chr7:138118221 [GRCh38] Chr7:137802967 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.195G>A (p.Gly65=)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001163791]	Chr7:138088702 [GRCh38] Chr7:137773448 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.-26T>G	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001163497]	Chr7:138076493 [GRCh38] Chr7:137761239 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*372C>T	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001163594]	Chr7:138117034 [GRCh38] Chr7:137801780 [GRCh37] Chr7:7q33	likely benign
NM_005989.4(AKR1D1):c.*667C>T	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001163914]	Chr7:138117329 [GRCh38] Chr7:137802075 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*52G>A	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001160222]	Chr7:138116714 [GRCh38] Chr7:137801460 [GRCh37] Chr7:7q33	likely benign
NM_005989.4(AKR1D1):c.*102C>A	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001160223]	Chr7:138116764 [GRCh38] Chr7:137801510 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*171T>C	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001160224]	Chr7:138116833 [GRCh38] Chr7:137801579 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.*1326C>T	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001160424]	Chr7:138117988 [GRCh38] Chr7:137802734 [GRCh37] Chr7:7q33	uncertain significance
GRCh37/hg19 7q33(chr7:137658677-137982831)x3	copy number gain	not provided [RCV001258972]	Chr7:137658677..137982831 [GRCh37] Chr7:7q33	uncertain significance
Single allele	complex	Ring chromosome 7 [RCV002280646]	Chr7:43360..159119707 [GRCh37] Chr7:7p22.3-q36.3	pathogenic
NM_005989.4(AKR1D1):c.509A>G (p.Asn170Ser)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001332699]	Chr7:138105359 [GRCh38] Chr7:137790105 [GRCh37] Chr7:7q33	conflicting interpretations of pathogenicity\|uncertain significance
NM_005989.4(AKR1D1):c.797G>A (p.Arg266Gln)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001374413]	Chr7:138107522 [GRCh38] Chr7:137792268 [GRCh37] Chr7:7q33	likely pathogenic
NM_005989.4(AKR1D1):c.148C>T (p.Arg50Ter)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV003227972]\|not provided [RCV001382844]	Chr7:138088655 [GRCh38] Chr7:137773401 [GRCh37] Chr7:7q33	pathogenic
NM_005989.4(AKR1D1):c.647T>C (p.Ile216Thr)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001332700]\|Inborn genetic diseases [RCV002546592]	Chr7:138106675 [GRCh38] Chr7:137791421 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.675T>A (p.Ser225Arg)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV001332701]	Chr7:138106703 [GRCh38] Chr7:137791449 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.262-1G>T	single nucleotide variant	not provided [RCV001377981]	Chr7:138091767 [GRCh38] Chr7:137776513 [GRCh37] Chr7:7q33	likely pathogenic
NM_005989.4(AKR1D1):c.379-4del	deletion	not provided [RCV001673122]\|not specified [RCV001530057]	Chr7:138097848 [GRCh38] Chr7:137782594 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.379-5_379-4del	deletion	not provided [RCV001614182]	Chr7:138097848..138097849 [GRCh38] Chr7:137782594..137782595 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.262-274G>A	single nucleotide variant	not provided [RCV001613608]	Chr7:138091494 [GRCh38] Chr7:137776240 [GRCh37] Chr7:7q33	benign
GRCh37/hg19 7q33-34(chr7:137633442-138213453)x3	copy number gain	not provided [RCV001834197]	Chr7:137633442..138213453 [GRCh37] Chr7:7q33-34	uncertain significance
NM_005989.4(AKR1D1):c.864del (p.Ser290fs)	deletion	Congenital bile acid synthesis defect 2 [RCV001785905]	Chr7:138113698 [GRCh38] Chr7:137798444 [GRCh37] Chr7:7q33	likely pathogenic
GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	copy number loss	Hypertelorism [RCV001801200]	Chr7:133848099..145814115 [GRCh37] Chr7:7q33-35	pathogenic
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	copy number gain	not provided [RCV001834520]	Chr7:133851002..159119707 [GRCh37] Chr7:7q33-36.3	pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	copy number loss	not specified [RCV002053727]	Chr7:127295698..139524358 [GRCh37] Chr7:7q32.1-34	pathogenic
GRCh37/hg19 7q33(chr7:136876370-137804126)	copy number loss	not specified [RCV002053735]	Chr7:136876370..137804126 [GRCh37] Chr7:7q33	uncertain significance
NC_000007.13:g.(?_137761265)_(141759786_?)dup	duplication	not provided [RCV002014827]	Chr7:137761265..141759786 [GRCh37] Chr7:7q33-34	uncertain significance
NC_000007.13:g.(?_130781014)_(150301047_?)del	deletion	not provided [RCV003116360]	Chr7:130781014..150301047 [GRCh37] Chr7:7q32.3-36.1	pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	copy number loss	See cases [RCV002287832]	Chr7:56604613..96692931 [GRCh37] Chr7:7p22.3-q36.3	uncertain significance
GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	copy number loss	not provided [RCV002472560]	Chr7:131779213..149042734 [GRCh37] Chr7:7q32.3-36.1	pathogenic
NM_005989.4(AKR1D1):c.685A>G (p.Ile229Val)	single nucleotide variant	Inborn genetic diseases [RCV002839604]	Chr7:138106713 [GRCh38] Chr7:137791459 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.478G>A (p.Ala160Thr)	single nucleotide variant	Inborn genetic diseases [RCV002907504]	Chr7:138105328 [GRCh38] Chr7:137790074 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.344A>C (p.Asp115Ala)	single nucleotide variant	Inborn genetic diseases [RCV002865035]	Chr7:138091850 [GRCh38] Chr7:137776596 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.157G>A (p.Asp53Asn)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV003235736]\|not provided [RCV002681186]	Chr7:138088664 [GRCh38] Chr7:137773410 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.938+16C>T	single nucleotide variant	not provided [RCV002781510]	Chr7:138113788 [GRCh38] Chr7:137798534 [GRCh37] Chr7:7q33	likely benign
NM_005989.4(AKR1D1):c.83A>T (p.Glu28Val)	single nucleotide variant	Inborn genetic diseases [RCV002845529]	Chr7:138076601 [GRCh38] Chr7:137761347 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.100A>G (p.Lys34Glu)	single nucleotide variant	not provided [RCV003022364]	Chr7:138088607 [GRCh38] Chr7:137773353 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.943C>T (p.Arg315Cys)	single nucleotide variant	Inborn genetic diseases [RCV002698603]	Chr7:138116624 [GRCh38] Chr7:137801370 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.580-11C>T	single nucleotide variant	not provided [RCV002786282]	Chr7:138106597 [GRCh38] Chr7:137791343 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.759G>A (p.Lys253=)	single nucleotide variant	not provided [RCV003057304]	Chr7:138107484 [GRCh38] Chr7:137792230 [GRCh37] Chr7:7q33	likely benign
NM_005989.4(AKR1D1):c.202A>G (p.Ile68Val)	single nucleotide variant	Inborn genetic diseases [RCV002808196]	Chr7:138088709 [GRCh38] Chr7:137773455 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.177A>T (p.Gln59His)	single nucleotide variant	Inborn genetic diseases [RCV002960641]	Chr7:138088684 [GRCh38] Chr7:137773430 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.127G>A (p.Val43Ile)	single nucleotide variant	not provided [RCV002856421]	Chr7:138088634 [GRCh38] Chr7:137773380 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.66_71del (p.Leu23_Gly24del)	deletion	Congenital bile acid synthesis defect 2 [RCV003141292]	Chr7:138076582..138076587 [GRCh38] Chr7:137761328..137761333 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.949C>T (p.His317Tyr)	single nucleotide variant	Congenital bile acid synthesis defect 2 [RCV003340907]	Chr7:138116630 [GRCh38] Chr7:137801376 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.133A>G (p.Ile45Val)	single nucleotide variant	Inborn genetic diseases [RCV003369531]	Chr7:138088640 [GRCh38] Chr7:137773386 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.127G>T (p.Val43Phe)	single nucleotide variant	Inborn genetic diseases [RCV003374923]	Chr7:138088634 [GRCh38] Chr7:137773380 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.172T>C (p.Tyr58His)	single nucleotide variant	AKR1D1-related disorder [RCV003419092]	Chr7:138088679 [GRCh38] Chr7:137773425 [GRCh37] Chr7:7q33	uncertain significance
GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	copy number loss	not provided [RCV003482988]	Chr7:135639005..159119707 [GRCh37] Chr7:7q33-36.3	pathogenic
NM_005989.4(AKR1D1):c.406G>A (p.Glu136Lys)	single nucleotide variant	not provided [RCV003481866]	Chr7:138097893 [GRCh38] Chr7:137782639 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.579+2_579+4delinsA	indel	AKR1D1-related disorder [RCV003400357]	Chr7:138105431..138105433 [GRCh38] Chr7:137790177..137790179 [GRCh37] Chr7:7q33	likely pathogenic
NM_005989.4(AKR1D1):c.506C>A (p.Ser169Tyr)	single nucleotide variant	not provided [RCV003695256]	Chr7:138105356 [GRCh38] Chr7:137790102 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.689+1G>A	single nucleotide variant	not provided [RCV003689774]	Chr7:138106718 [GRCh38] Chr7:137791464 [GRCh37] Chr7:7q33	likely pathogenic
NM_005989.4(AKR1D1):c.771A>G (p.Gln257=)	single nucleotide variant	not provided [RCV003663592]	Chr7:138107496 [GRCh38] Chr7:137792242 [GRCh37] Chr7:7q33	likely benign
NM_005989.4(AKR1D1):c.739T>C (p.Leu247=)	single nucleotide variant	not provided [RCV003837499]	Chr7:138107464 [GRCh38] Chr7:137792210 [GRCh37] Chr7:7q33	likely benign
NM_005989.4(AKR1D1):c.946G>A (p.Asp316Asn)	single nucleotide variant	not provided [RCV003849648]	Chr7:138116627 [GRCh38] Chr7:137801373 [GRCh37] Chr7:7q33	uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	copy number gain	not specified [RCV003986713]	Chr7:137456457..159119707 [GRCh37] Chr7:7q33-36.3	pathogenic
NM_005989.4(AKR1D1):c.919C>T (p.Arg307Cys)	single nucleotide variant	not provided [RCV003734606]	Chr7:138113753 [GRCh38] Chr7:137798499 [GRCh37] Chr7:7q33	likely pathogenic
NM_005989.4(AKR1D1):c.467_469dup (p.Ala156_Cys157insSer)	duplication	Congenital bile acid synthesis defect 2 [RCV003989343]	Chr7:138105316..138105317 [GRCh38] Chr7:137790062..137790063 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.938+9C>T	single nucleotide variant	AKR1D1-related disorder [RCV003901698]	Chr7:138113781 [GRCh38] Chr7:137798527 [GRCh37] Chr7:7q33	likely benign
NM_005989.4(AKR1D1):c.379-4dup	duplication	AKR1D1-related disorder [RCV003967136]	Chr7:138097847..138097848 [GRCh38] Chr7:137782593..137782594 [GRCh37] Chr7:7q33	likely benign
NM_005989.4(AKR1D1):c.186C>T (p.His62=)	single nucleotide variant	AKR1D1-related disorder [RCV003952037]	Chr7:138088693 [GRCh38] Chr7:137773439 [GRCh37] Chr7:7q33	likely benign
NM_005989.4(AKR1D1):c.379-6_379-4del	deletion	AKR1D1-related disorder [RCV003964441]	Chr7:138097848..138097850 [GRCh38] Chr7:137782594..137782596 [GRCh37] Chr7:7q33	benign
NM_005989.4(AKR1D1):c.931T>C (p.Leu311=)	single nucleotide variant	AKR1D1-related disorder [RCV003893647]	Chr7:138113765 [GRCh38] Chr7:137798511 [GRCh37] Chr7:7q33	likely benign
NM_005989.4(AKR1D1):c.379-4T>C	single nucleotide variant	AKR1D1-related disorder [RCV003949668]	Chr7:138097862 [GRCh38] Chr7:137782608 [GRCh37] Chr7:7q33	likely benign
NM_005989.4(AKR1D1):c.379-7_379-4del	deletion	AKR1D1-related disorder [RCV003969358]	Chr7:138097848..138097851 [GRCh38] Chr7:137782594..137782597 [GRCh37] Chr7:7q33	likely benign
NM_005989.4(AKR1D1):c.579+6G>A	single nucleotide variant	AKR1D1-related disorder [RCV003954886]	Chr7:138105435 [GRCh38] Chr7:137790181 [GRCh37] Chr7:7q33	likely benign
NM_005989.4(AKR1D1):c.697G>A (p.Val233Ile)	single nucleotide variant	Inborn genetic diseases [RCV004397799]	Chr7:138107422 [GRCh38] Chr7:137792168 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.874A>G (p.Thr292Ala)	single nucleotide variant	Inborn genetic diseases [RCV004397802]	Chr7:138113708 [GRCh38] Chr7:137798454 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.970G>A (p.Asp324Asn)	single nucleotide variant	Inborn genetic diseases [RCV004397810]	Chr7:138116651 [GRCh38] Chr7:137801397 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.187G>A (p.Glu63Lys)	single nucleotide variant	Inborn genetic diseases [RCV004397766]	Chr7:138088694 [GRCh38] Chr7:137773440 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.321G>C (p.Arg107Ser)	single nucleotide variant	Inborn genetic diseases [RCV004397772]	Chr7:138091827 [GRCh38] Chr7:137776573 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.215T>C (p.Ile72Thr)	single nucleotide variant	Inborn genetic diseases [RCV004624039]	Chr7:138088722 [GRCh38] Chr7:137773468 [GRCh37] Chr7:7q33	uncertain significance
NM_005989.4(AKR1D1):c.800G>A (p.Gly267Glu)	single nucleotide variant	Inborn genetic diseases [RCV004634785]	Chr7:138107525 [GRCh38] Chr7:137792271 [GRCh37] Chr7:7q33	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1238
Count of miRNA genes:	562
Interacting mature miRNAs:	620
Transcripts:	ENST00000242375, ENST00000411726, ENST00000432161, ENST00000438242, ENST00000468877, ENST00000470851
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
406896256	GWAS545232_H	etiocholanolone glucuronide measurement QTL GWAS545232 (human)		2e-22	etiocholanolone glucuronide measurement		7	138109275	138109276	Human
407237445	GWAS886421_H	testosterone measurement QTL GWAS886421 (human)		4e-25	testosterone measurement	serum testosterone level (CMO:0000568)	7	138116698	138116699	Human
407329349	GWAS978325_H	etiocholanolone glucuronide measurement QTL GWAS978325 (human)		2e-12	etiocholanolone glucuronide measurement		7	138106136	138106137	Human
407072897	GWAS721873_H	testosterone measurement QTL GWAS721873 (human)		1e-15	testosterone measurement	serum testosterone level (CMO:0000568)	7	138112731	138112732	Human
407314756	GWAS963732_H	testosterone measurement QTL GWAS963732 (human)		2e-11	testosterone measurement	serum testosterone level (CMO:0000568)	7	138114823	138114824	Human
407064768	GWAS713744_H	metabolite measurement QTL GWAS713744 (human)		5e-15	metabolite measurement		7	138116698	138116699	Human
406925509	GWAS574485_H	X-15492 measurement QTL GWAS574485 (human)		5e-18	X-15492 measurement		7	138100044	138100045	Human
407024774	GWAS673750_H	X-12844 measurement QTL GWAS673750 (human)		1e-35	X-12844 measurement		7	138117169	138117170	Human
407092933	GWAS741909_H	X-17340 measurement QTL GWAS741909 (human)		5e-29	X-17340 measurement		7	138109275	138109276	Human
407147587	GWAS796563_H	X-12095--N1-methyl-3-pyridone-4-carboxamide-to-X-12844 ratio QTL GWAS796563 (human)		4e-20	X-12095--N1-methyl-3-pyridone-4-carboxamide-to-X-12844 ratio		7	138103746	138103747	Human
407184141	GWAS833117_H	X-12844 measurement QTL GWAS833117 (human)		4e-08	X-12844 measurement		7	138116667	138116668	Human
406925512	GWAS574488_H	X-15492 measurement QTL GWAS574488 (human)		6e-18	X-15492 measurement		7	138100345	138100346	Human
407050893	GWAS699869_H	lysophosphatidylcholine 20:5 measurement QTL GWAS699869 (human)		0.000005	glycerophosphocholine amount (VT:0011004)		7	138118146	138118147	Human
407244886	GWAS893862_H	body height QTL GWAS893862 (human)		3e-08	body height (VT:0001253)	body height (CMO:0000106)	7	138116667	138116668	Human
407312980	GWAS961956_H	X-17357 measurement QTL GWAS961956 (human)		1e-18	X-17357 measurement		7	138114542	138114543	Human
407033047	GWAS682023_H	free androgen index QTL GWAS682023 (human)		9e-12	free androgen index		7	138101195	138101196	Human
407312977	GWAS961953_H	X-17340 measurement QTL GWAS961953 (human)		5e-18	X-17340 measurement		7	138116698	138116699	Human
407311647	GWAS960623_H	testosterone measurement QTL GWAS960623 (human)		2e-08	testosterone measurement	serum testosterone level (CMO:0000568)	7	138105904	138105905	Human
407013786	GWAS662762_H	testosterone measurement QTL GWAS662762 (human)		2e-54	testosterone measurement	serum testosterone level (CMO:0000568)	7	138116698	138116699	Human
407314589	GWAS963565_H	X-12844 measurement QTL GWAS963565 (human)		6e-33	X-12844 measurement		7	138116698	138116699	Human
407085663	GWAS734639_H	pregnanediol-3-glucuronide measurement QTL GWAS734639 (human)		3e-09	pregnanediol-3-glucuronide measurement		7	138113018	138113019	Human
407025246	GWAS674222_H	X-17357 measurement QTL GWAS674222 (human)		8e-22	X-17357 measurement		7	138114542	138114543	Human
407085277	GWAS734253_H	pregnenolone sulfate measurement QTL GWAS734253 (human)		1e-10	pregnenolone sulfate measurement		7	138105927	138105928	Human
406990877	GWAS639853_H	testosterone measurement QTL GWAS639853 (human)		3e-08	testosterone measurement	serum testosterone level (CMO:0000568)	7	138117169	138117170	Human
407022560	GWAS671536_H	testosterone measurement QTL GWAS671536 (human)		2e-27	testosterone measurement	serum testosterone level (CMO:0000568)	7	138112731	138112732	Human
407311651	GWAS960627_H	testosterone measurement QTL GWAS960627 (human)		2e-08	testosterone measurement	serum testosterone level (CMO:0000568)	7	138111096	138111097	Human
407242275	GWAS891251_H	testosterone measurement QTL GWAS891251 (human)		5e-26	testosterone measurement	serum testosterone level (CMO:0000568)	7	138116698	138116699	Human
406929129	GWAS578105_H	X-12844 measurement QTL GWAS578105 (human)		1e-33	X-12844 measurement		7	138106136	138106137	Human
407267309	GWAS916285_H	testosterone measurement QTL GWAS916285 (human)		3e-12	testosterone measurement	serum testosterone level (CMO:0000568)	7	138116698	138116699	Human
407314602	GWAS963578_H	X-15492 measurement QTL GWAS963578 (human)		1e-13	X-15492 measurement		7	138106136	138106137	Human
407094702	GWAS743678_H	X-17357 measurement QTL GWAS743678 (human)		2e-38	X-17357 measurement		7	138114616	138114617	Human
406992627	GWAS641603_H	testosterone measurement QTL GWAS641603 (human)		3e-13	testosterone measurement	serum testosterone level (CMO:0000568)	7	138117169	138117170	Human
407095349	GWAS744325_H	X-12844 measurement QTL GWAS744325 (human)		2e-60	X-12844 measurement		7	138091665	138091666	Human
407061877	GWAS710853_H	X-12844 measurement QTL GWAS710853 (human)		1e-13	X-12844 measurement		7	138103746	138103747	Human
407094452	GWAS743428_H	X-15492 measurement QTL GWAS743428 (human)		1e-21	X-15492 measurement		7	138109275	138109276	Human
406910455	GWAS559431_H	etiocholanolone glucuronide measurement QTL GWAS559431 (human)		5e-16	etiocholanolone glucuronide measurement		7	138110460	138110461	Human
407146099	GWAS795075_H	X-12844 measurement QTL GWAS795075 (human)		2e-17	X-12844 measurement		7	138114823	138114824	Human
407094011	GWAS742987_H	metabolite measurement QTL GWAS742987 (human)		3e-16	metabolite measurement		7	138113018	138113019	Human
407244669	GWAS893645_H	testosterone measurement QTL GWAS893645 (human)		0.0000003	testosterone measurement	serum testosterone level (CMO:0000568)	7	138116698	138116699	Human
407012542	GWAS661518_H	testosterone measurement QTL GWAS661518 (human)		5e-34	testosterone measurement	serum testosterone level (CMO:0000568)	7	138113847	138113848	Human
407325242	GWAS974218_H	testosterone measurement QTL GWAS974218 (human)		8e-19	testosterone measurement	serum testosterone level (CMO:0000568)	7	138117169	138117170	Human

Markers in Region

SHGC-35425

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	137,801,483 - 137,801,705	UniSTS	GRCh37
Build 36	7	137,452,023 - 137,452,245	RGD	NCBI36
Celera	7	132,540,272 - 132,540,494	RGD
Cytogenetic Map	7	q32-q33	UniSTS
HuRef	7	132,109,466 - 132,109,688	UniSTS
CRA_TCAGchr7v2	7	137,146,689 - 137,146,911	UniSTS
TNG Radiation Hybrid Map	7	62449.0	UniSTS
GeneMap99-GB4 RH Map	7	633.31	UniSTS
Whitehead-RH Map	7	606.1	UniSTS
GeneMap99-G3 RH Map	7	7494.0	UniSTS

D8S2279

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	21	q22.12	UniSTS
Cytogenetic Map	15	q13	UniSTS
Cytogenetic Map	9	q32	UniSTS
Cytogenetic Map	15	q22.3	UniSTS
Cytogenetic Map	17	p12	UniSTS
Cytogenetic Map	21	q21.3	UniSTS
Cytogenetic Map	3	p22-p21.3	UniSTS
Cytogenetic Map	1	q21.1	UniSTS
Cytogenetic Map	2	q24.2	UniSTS
Cytogenetic Map	17	q24.2	UniSTS
Cytogenetic Map	1	q32	UniSTS
Cytogenetic Map	3	p25.3	UniSTS
Cytogenetic Map	20	q13.3	UniSTS
Cytogenetic Map	2	q31.1	UniSTS
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	3	p14.1	UniSTS
Cytogenetic Map	2	q37.3	UniSTS
Cytogenetic Map	7	p14.1	UniSTS
Cytogenetic Map	2	q22.3	UniSTS
Cytogenetic Map	15	q13.2	UniSTS
Cytogenetic Map	12	q24.1	UniSTS
Cytogenetic Map	7	p15.2	UniSTS
Cytogenetic Map	5	q31.2	UniSTS
Cytogenetic Map	2	p25.2	UniSTS
Cytogenetic Map	3	p24.3	UniSTS
Cytogenetic Map	17	q25.3	UniSTS
Cytogenetic Map	15	q22.31	UniSTS
Cytogenetic Map	5	q14	UniSTS
Cytogenetic Map	5	q31	UniSTS
Cytogenetic Map	1	p36.32	UniSTS
Cytogenetic Map	1	q42.12	UniSTS
Cytogenetic Map	7	q21.11	UniSTS
Cytogenetic Map	9	q34.2	UniSTS
Cytogenetic Map	19	q13.3	UniSTS
Cytogenetic Map	22	q13.33	UniSTS
Cytogenetic Map	8	q22.3	UniSTS
Cytogenetic Map	6	p21.1-p12	UniSTS
Cytogenetic Map	1	p36.13	UniSTS
Cytogenetic Map	7	q36.3	UniSTS
Cytogenetic Map	2	p25.1	UniSTS
Cytogenetic Map	7	p21.3	UniSTS
Cytogenetic Map	4	q12	UniSTS
Cytogenetic Map	22	q11.22	UniSTS
Cytogenetic Map	11	p13	UniSTS
Cytogenetic Map	1	q12	UniSTS
Cytogenetic Map	8	p23	UniSTS
Cytogenetic Map	11	q13.2-q13.3	UniSTS
Cytogenetic Map	13	q14.1-q14.3	UniSTS
Cytogenetic Map	3	q22-q24	UniSTS
Cytogenetic Map	3	q13.1-q13.2	UniSTS
Cytogenetic Map	16	q24	UniSTS
Cytogenetic Map	5	q23.3-q31.1	UniSTS
Cytogenetic Map	8	p21.3	UniSTS
Cytogenetic Map	14	q32.3	UniSTS
Cytogenetic Map	7	q11.23	UniSTS
Cytogenetic Map	7	q32	UniSTS
Cytogenetic Map	14	q32.33	UniSTS
Cytogenetic Map	19	p13.2	UniSTS
Cytogenetic Map	9	q34.3	UniSTS
Cytogenetic Map	1	p32.3	UniSTS
Cytogenetic Map	17	q11	UniSTS
Cytogenetic Map	17	p13.1-p12	UniSTS
Cytogenetic Map	18	q21.33	UniSTS
Cytogenetic Map	19	p13.12	UniSTS
Cytogenetic Map	5	q14.1	UniSTS
Cytogenetic Map	14	q24.3	UniSTS
Cytogenetic Map	1	q21-q23	UniSTS
Cytogenetic Map	X	p11.23	UniSTS
Cytogenetic Map	4	q21.1	UniSTS
Cytogenetic Map	12	q13.13	UniSTS
Cytogenetic Map	14	q23.3	UniSTS
Cytogenetic Map	17	p12-p11.2	UniSTS
Cytogenetic Map	6	p21.1	UniSTS
Cytogenetic Map	1	q24	UniSTS
Cytogenetic Map	1	q43	UniSTS
Cytogenetic Map	9	q34.13	UniSTS
Cytogenetic Map	19	q13.4	UniSTS
Cytogenetic Map	2	q32	UniSTS
Cytogenetic Map	X	p22.2	UniSTS
Cytogenetic Map	19	p13.11	UniSTS
Cytogenetic Map	2	q33	UniSTS
Cytogenetic Map	10	p13	UniSTS
Cytogenetic Map	2	q11.2	UniSTS
Cytogenetic Map	3	q27	UniSTS
Cytogenetic Map	17	q25.1	UniSTS
Cytogenetic Map	4	p16.1	UniSTS
Cytogenetic Map	14	q22.3	UniSTS
Cytogenetic Map	10	q23-q24	UniSTS
Cytogenetic Map	2	q37.1	UniSTS
Cytogenetic Map	17	q12	UniSTS
Cytogenetic Map	14	q31-q32	UniSTS
Cytogenetic Map	5	p15.33	UniSTS
Cytogenetic Map	1	q23.2	UniSTS
Cytogenetic Map	16	q24.3	UniSTS
Cytogenetic Map	4	p14	UniSTS
Cytogenetic Map	2	q32.3	UniSTS
Cytogenetic Map	15	q21.1	UniSTS
Cytogenetic Map	4	q32.2	UniSTS
Cytogenetic Map	10	q23	UniSTS
Cytogenetic Map	5	q14.2	UniSTS
Cytogenetic Map	4	q32.1	UniSTS
Cytogenetic Map	1	q25.1	UniSTS
Cytogenetic Map	11	q14.1	UniSTS
Cytogenetic Map	4	p16.3	UniSTS
Cytogenetic Map	1	p34.2	UniSTS
Cytogenetic Map	11	q23.1	UniSTS
Cytogenetic Map	3	p21.1	UniSTS
Cytogenetic Map	16	q22.2	UniSTS
Cytogenetic Map	14	q32.31	UniSTS
Cytogenetic Map	16	q11.2	UniSTS
Cytogenetic Map	6	q22	UniSTS
Cytogenetic Map	10	p15.3	UniSTS
Cytogenetic Map	11	q23	UniSTS
Cytogenetic Map	22	q13.2	UniSTS
Cytogenetic Map	12	q12	UniSTS
Cytogenetic Map	19	q13.42	UniSTS
Cytogenetic Map	19	q13.11	UniSTS
Cytogenetic Map	12	q24.31	UniSTS
Cytogenetic Map	15	q15	UniSTS
Cytogenetic Map	2	q33.1	UniSTS
Cytogenetic Map	22	q12.3	UniSTS
Cytogenetic Map	20	q11	UniSTS
Cytogenetic Map	22	q11.23	UniSTS
Cytogenetic Map	17	q25	UniSTS
Cytogenetic Map	1	p13.3	UniSTS
Cytogenetic Map	3	p22.1	UniSTS
Cytogenetic Map	8	q22.1	UniSTS
Cytogenetic Map	16	q22.1	UniSTS
Cytogenetic Map	18	p11.31	UniSTS
Cytogenetic Map	19	p12	UniSTS
Cytogenetic Map	11	q13.1	UniSTS
Cytogenetic Map	19	p13.3	UniSTS
Cytogenetic Map	2	p22.1	UniSTS
Cytogenetic Map	16	p13.3	UniSTS
Cytogenetic Map	1	p35.2	UniSTS
Cytogenetic Map	Y	p11.2	UniSTS
Cytogenetic Map	13	q13.1	UniSTS
Cytogenetic Map	20	q11.22	UniSTS
Cytogenetic Map	19	q13.2	UniSTS
Cytogenetic Map	18	q12	UniSTS
Cytogenetic Map	17	q21.33	UniSTS
Cytogenetic Map	15	q15.1	UniSTS
Cytogenetic Map	3	q27.2	UniSTS
Cytogenetic Map	3	q21.3	UniSTS
Cytogenetic Map	5	p15.2	UniSTS
Cytogenetic Map	20	q13.12	UniSTS
Cytogenetic Map	17	q21	UniSTS
Cytogenetic Map	1	q42	UniSTS
Cytogenetic Map	14	q32.11	UniSTS
Cytogenetic Map	17	q21.2-q21.3	UniSTS
Cytogenetic Map	5	q32-q34	UniSTS
Cytogenetic Map	15	q14	UniSTS
Cytogenetic Map	16	q13	UniSTS
Cytogenetic Map	3	q21.2	UniSTS
Cytogenetic Map	3	p21.3	UniSTS
Cytogenetic Map	14	q24.2	UniSTS
Cytogenetic Map	12	q24.13	UniSTS
Cytogenetic Map	13	q14.11	UniSTS
Cytogenetic Map	3	q27.3	UniSTS
Cytogenetic Map	1	q32.3	UniSTS
Cytogenetic Map	6	p22.1	UniSTS
Cytogenetic Map	9	q34.11	UniSTS
Cytogenetic Map	6	q21	UniSTS
Cytogenetic Map	6	q25.3	UniSTS
Cytogenetic Map	2	p11.2	UniSTS
Cytogenetic Map	13	q14.3	UniSTS
Cytogenetic Map	17	q11.2	UniSTS
Cytogenetic Map	10	p12	UniSTS
Cytogenetic Map	2	q33.3	UniSTS
Cytogenetic Map	14	q21.3	UniSTS
Cytogenetic Map	8	p22-p21	UniSTS
Cytogenetic Map	18	q11.2	UniSTS
Cytogenetic Map	2	p15	UniSTS
Cytogenetic Map	17	q22	UniSTS
Cytogenetic Map	12	q21.33	UniSTS
Cytogenetic Map	20	q13.32	UniSTS
Cytogenetic Map	1	p34.1	UniSTS
Cytogenetic Map	10	q26	UniSTS
Cytogenetic Map	8	p23.1	UniSTS
Cytogenetic Map	19	p13	UniSTS
Cytogenetic Map	7	q21.13	UniSTS
Cytogenetic Map	7	q31.1	UniSTS
Cytogenetic Map	1	p33	UniSTS
Cytogenetic Map	21	q22.3	UniSTS
Cytogenetic Map	1	p35.1	UniSTS
Cytogenetic Map	22	q12.2	UniSTS
Cytogenetic Map	9	q22.3	UniSTS
Cytogenetic Map	8	q13.1	UniSTS
Cytogenetic Map	3	q25	UniSTS
Cytogenetic Map	1	p36.33	UniSTS
Cytogenetic Map	20	q13.33	UniSTS
Cytogenetic Map	1	p31.3	UniSTS
Cytogenetic Map	14	q31.1	UniSTS
Cytogenetic Map	22	q13.1	UniSTS
Cytogenetic Map	12	q13.2	UniSTS
Cytogenetic Map	22	q13.31-q13.33	UniSTS
Cytogenetic Map	20	q13.31	UniSTS
Cytogenetic Map	11	p11.2	UniSTS
Cytogenetic Map	1	q41	UniSTS
Cytogenetic Map	1	p36.11	UniSTS
Cytogenetic Map	15	q25.2	UniSTS
Cytogenetic Map	14	q11.2	UniSTS
Cytogenetic Map	17	q23.2	UniSTS
Cytogenetic Map	7	q32.2	UniSTS
Cytogenetic Map	19	q13.12	UniSTS
Cytogenetic Map	1	q32.1	UniSTS
Cytogenetic Map	6	q25.1	UniSTS
Cytogenetic Map	19	q13.43	UniSTS
Cytogenetic Map	9	p13.3	UniSTS
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	2	p13.1	UniSTS
Cytogenetic Map	22	q11.21	UniSTS
Cytogenetic Map	3	q29	UniSTS
Cytogenetic Map	7	p13	UniSTS
Cytogenetic Map	11	q23.3	UniSTS
Cytogenetic Map	14	q31-q32.1	UniSTS
Cytogenetic Map	1	q42.11	UniSTS
Cytogenetic Map	4	q35.1	UniSTS
Cytogenetic Map	2	p23.3	UniSTS
Cytogenetic Map	2	p13.3	UniSTS
Cytogenetic Map	X	p11.3	UniSTS
Cytogenetic Map	2	q11.2-q12.1	UniSTS
Cytogenetic Map	20	q13.13	UniSTS
Cytogenetic Map	1	p22	UniSTS
Cytogenetic Map	6	q16.2	UniSTS
Cytogenetic Map	18	q23	UniSTS
Cytogenetic Map	2	q14	UniSTS
Cytogenetic Map	20	p11.23-p11.21	UniSTS
Cytogenetic Map	16	p12.2	UniSTS
Cytogenetic Map	8	p11.23	UniSTS
Cytogenetic Map	19	q13.1	UniSTS
Cytogenetic Map	19	q13	UniSTS
Cytogenetic Map	8	p11.21	UniSTS
Cytogenetic Map	12	q14.3	UniSTS
Cytogenetic Map	X	q26.3	UniSTS
Cytogenetic Map	8	q24.11	UniSTS
Cytogenetic Map	10	q23.1	UniSTS
Cytogenetic Map	1	q44	UniSTS
Cytogenetic Map	9	q22.33	UniSTS
Cytogenetic Map	3	p21.31	UniSTS
Cytogenetic Map	17	p13.2	UniSTS
Cytogenetic Map	9	q21.32	UniSTS
Cytogenetic Map	7	q34	UniSTS
Cytogenetic Map	9	q33.3	UniSTS
Cytogenetic Map	1	p36.1	UniSTS
Cytogenetic Map	20	q12	UniSTS
Cytogenetic Map	4	q21.23	UniSTS
Cytogenetic Map	5	q13.2	UniSTS
Cytogenetic Map	22	q12.1	UniSTS
Cytogenetic Map	5	q31.1	UniSTS
Cytogenetic Map	2	q21.3	UniSTS
Cytogenetic Map	7	q21.2	UniSTS
Cytogenetic Map	17	q22.2	UniSTS
Cytogenetic Map	17	p13	UniSTS
Cytogenetic Map	12	q24.11	UniSTS
Cytogenetic Map	18	q21	UniSTS
Cytogenetic Map	10	q11.1	UniSTS
Cytogenetic Map	22	q11.2	UniSTS
Cytogenetic Map	19	q12	UniSTS
Cytogenetic Map	7	q34-q35	UniSTS
Cytogenetic Map	15	q24.1	UniSTS
Cytogenetic Map	18	p11.21	UniSTS
Cytogenetic Map	1	q23.1	UniSTS
Cytogenetic Map	19	q13.41	UniSTS
Cytogenetic Map	6	p25.1-p23	UniSTS
Cytogenetic Map	11	p15.4	UniSTS
Cytogenetic Map	10	q22	UniSTS
Cytogenetic Map	5	q35.3	UniSTS
Cytogenetic Map	18	q12.1-q21.1	UniSTS
Cytogenetic Map	12	p13.1	UniSTS
Cytogenetic Map	13	q12.1	UniSTS
Cytogenetic Map	12	q15	UniSTS
Cytogenetic Map	6	p21.32	UniSTS
Cytogenetic Map	8	q24.3	UniSTS
Cytogenetic Map	10	p14	UniSTS
Cytogenetic Map	12	p13.1-p12.3	UniSTS
Cytogenetic Map	3	p25.2	UniSTS
Cytogenetic Map	6	p21.33	UniSTS
Cytogenetic Map	6	p21.3	UniSTS
Cytogenetic Map	3	p21.2	UniSTS
Cytogenetic Map	10	q26.3	UniSTS
Cytogenetic Map	1	q21.3	UniSTS
Cytogenetic Map	X	p21.2	UniSTS
Cytogenetic Map	7	q22.1	UniSTS
Cytogenetic Map	14	q12	UniSTS
Cytogenetic Map	8	p11.22	UniSTS
Cytogenetic Map	19	q13.32	UniSTS
Cytogenetic Map	2	q21.1	UniSTS
Cytogenetic Map	9	q21.12	UniSTS
Cytogenetic Map	15	q23	UniSTS
Cytogenetic Map	7	p22.2	UniSTS
Cytogenetic Map	8	p21.2	UniSTS
Cytogenetic Map	7	q33	UniSTS
Cytogenetic Map	15	q15.3	UniSTS
Cytogenetic Map	4	q21.22	UniSTS
Cytogenetic Map	12	q13.12	UniSTS
Cytogenetic Map	10	q24.31	UniSTS
Cytogenetic Map	12	p13.31	UniSTS
Cytogenetic Map	14	q32.12	UniSTS
Cytogenetic Map	10	q24.32	UniSTS
Cytogenetic Map	11	q12.3	UniSTS
Cytogenetic Map	16	p12.3	UniSTS
Cytogenetic Map	1	p34.3	UniSTS
Cytogenetic Map	1	p36.21	UniSTS
Cytogenetic Map	2	q24.3	UniSTS
Cytogenetic Map	2	q33.2	UniSTS
Cytogenetic Map	16	q24.1	UniSTS
Cytogenetic Map	1	p31.1	UniSTS
Cytogenetic Map	19	q13.33	UniSTS
Cytogenetic Map	1	p36.31	UniSTS
Cytogenetic Map	3	q13.31	UniSTS
Cytogenetic Map	15	q22.2	UniSTS
Cytogenetic Map	5	q32	UniSTS
Cytogenetic Map	6	q13	UniSTS
Cytogenetic Map	X	q24	UniSTS
Cytogenetic Map	6	q25	UniSTS
Cytogenetic Map	6	p21	UniSTS
Cytogenetic Map	2	q35	UniSTS
Cytogenetic Map	12	p13-p12	UniSTS
Cytogenetic Map	9	p13.2	UniSTS
Cytogenetic Map	6	p22	UniSTS
Cytogenetic Map	2	q12.1	UniSTS
Cytogenetic Map	17	p13.3	UniSTS
Cytogenetic Map	9	q22.2	UniSTS
Cytogenetic Map	1	q22	UniSTS
Cytogenetic Map	1	p22.1	UniSTS
Cytogenetic Map	1	p36	UniSTS
Cytogenetic Map	9	q13-q21	UniSTS
Cytogenetic Map	11	p15.5	UniSTS
Cytogenetic Map	X	p11.2	UniSTS
Cytogenetic Map	19	p	UniSTS
Cytogenetic Map	19	p13.1-p12	UniSTS
Cytogenetic Map	7	q22	UniSTS
Cytogenetic Map	12	q24.33	UniSTS
Cytogenetic Map	3	q21	UniSTS
Cytogenetic Map	8	q24	UniSTS
Cytogenetic Map	18	p11.31-p11.21	UniSTS
Cytogenetic Map	11	p15.3-p15.1	UniSTS
Cytogenetic Map	11	q13	UniSTS
Cytogenetic Map	8	q22	UniSTS
Cytogenetic Map	4	p15.1	UniSTS
Cytogenetic Map	1	q25.2	UniSTS
Cytogenetic Map	2	p16.3	UniSTS
Cytogenetic Map	16	p13.12	UniSTS
Cytogenetic Map	7	p21.2	UniSTS
Cytogenetic Map	12	q21.1	UniSTS
Cytogenetic Map	2	p14	UniSTS
Cytogenetic Map	6	q24.3	UniSTS
Cytogenetic Map	10	q22.2	UniSTS
Cytogenetic Map	5	q23.1	UniSTS
Cytogenetic Map	10	q23.2	UniSTS
Cytogenetic Map	7	p22.3	UniSTS
Cytogenetic Map	21	q22.2	UniSTS
Cytogenetic Map	6	q22.1	UniSTS
Cytogenetic Map	1	q42.1	UniSTS
Cytogenetic Map	1	q25	UniSTS
Cytogenetic Map	6	p22.3	UniSTS
Cytogenetic Map	1	q21.2	UniSTS
Cytogenetic Map	15	q22.1	UniSTS
Cytogenetic Map	12	p13.2	UniSTS
Cytogenetic Map	12	q22	UniSTS
Cytogenetic Map	3	p21-p12	UniSTS
Cytogenetic Map	4	q35	UniSTS
Cytogenetic Map	1	p34-p33	UniSTS
Cytogenetic Map	21	q22.11	UniSTS
Cytogenetic Map	3	p22-p21.33	UniSTS
Cytogenetic Map	3	q23	UniSTS
Cytogenetic Map	3	q22.1	UniSTS
Cytogenetic Map	8	q21.11	UniSTS
Cytogenetic Map	X	q22.3	UniSTS
Cytogenetic Map	7	p14	UniSTS
Cytogenetic Map	17	q21.1	UniSTS
Cytogenetic Map	15	q21	UniSTS
Cytogenetic Map	1	q42.3	UniSTS
Cytogenetic Map	9	q22	UniSTS
Cytogenetic Map	2	q12.3	UniSTS
Cytogenetic Map	20	q11.2-q13.2	UniSTS
Cytogenetic Map	17	q21.31	UniSTS
Cytogenetic Map	17	q24	UniSTS
Cytogenetic Map	3	q25.31	UniSTS
Cytogenetic Map	6	p24.3	UniSTS
Cytogenetic Map	2	q31.3	UniSTS
Cytogenetic Map	1	q31	UniSTS
Cytogenetic Map	7	q32-q33	UniSTS
Cytogenetic Map	7	q21.1	UniSTS
Cytogenetic Map	14	q23-q24.2	UniSTS
Cytogenetic Map	19	q13.3-q13.4	UniSTS
Cytogenetic Map	2	p24-p21	UniSTS
Cytogenetic Map	15	q11.2	UniSTS
Cytogenetic Map	15	q26.3	UniSTS
Cytogenetic Map	7	p22	UniSTS
Cytogenetic Map	12	p11	UniSTS
Cytogenetic Map	1	p35.3	UniSTS
Cytogenetic Map	1	p12	UniSTS
Cytogenetic Map	13	q32.3	UniSTS
Cytogenetic Map	5	q23.3	UniSTS
Cytogenetic Map	20	q13	UniSTS
Cytogenetic Map	17	q25.2	UniSTS
Cytogenetic Map	7	q36.1	UniSTS
Cytogenetic Map	10	p12.33	UniSTS
Cytogenetic Map	17	q21.32	UniSTS
Cytogenetic Map	X	p11.22	UniSTS
Cytogenetic Map	12	p13.3	UniSTS
Cytogenetic Map	X	q25-q26	UniSTS
Cytogenetic Map	2	q36.1	UniSTS
Cytogenetic Map	5	p13	UniSTS
Cytogenetic Map	15	q25	UniSTS
Cytogenetic Map	5	q12.1	UniSTS
Cytogenetic Map	5	p12	UniSTS
Cytogenetic Map	1	p36.22	UniSTS
Cytogenetic Map	3	q26.31	UniSTS
Cytogenetic Map	17	q22-q23	UniSTS
Cytogenetic Map	X	p22.33	UniSTS
Cytogenetic Map	Y	p11.3	UniSTS
Cytogenetic Map	17	p11.2	UniSTS
Cytogenetic Map	X	q13.2	UniSTS
Cytogenetic Map	12	q23.1	UniSTS
Cytogenetic Map	16	q12.2	UniSTS
Cytogenetic Map	3	q26.32	UniSTS
Cytogenetic Map	6	q22.31	UniSTS
Cytogenetic Map	3	q26.2-q27	UniSTS
Cytogenetic Map	1	q25.1-q25.2	UniSTS
Cytogenetic Map	14	q24	UniSTS
Cytogenetic Map	9	q21.13	UniSTS
Cytogenetic Map	10	q11.22	UniSTS
Cytogenetic Map	22	q13.31	UniSTS
Cytogenetic Map	3	p25.1	UniSTS
Cytogenetic Map	5	q21.3	UniSTS
Cytogenetic Map	5	p13.3	UniSTS
Cytogenetic Map	10	q22.1	UniSTS
Cytogenetic Map	14	q12-q13	UniSTS
Cytogenetic Map	X	p22	UniSTS
Cytogenetic Map	X	q23	UniSTS
Cytogenetic Map	20	p12.3-p11.21	UniSTS
Cytogenetic Map	2	p21	UniSTS
Cytogenetic Map	17	q11.2-q12	UniSTS
Cytogenetic Map	4	q32-q34	UniSTS
Cytogenetic Map	X	q25-q26.1	UniSTS
Cytogenetic Map	2	p25-p24	UniSTS
Cytogenetic Map	2	p25	UniSTS
Cytogenetic Map	11	q13.2	UniSTS
Cytogenetic Map	X	p22.2-p22.1	UniSTS
Cytogenetic Map	X	q22.1	UniSTS
Cytogenetic Map	4	q25	UniSTS
Cytogenetic Map	3	p24.2	UniSTS
Cytogenetic Map	22	q13	UniSTS
Cytogenetic Map	20	q11.22-q12	UniSTS
Cytogenetic Map	4	q34.2	UniSTS
Cytogenetic Map	20	p13	UniSTS
Cytogenetic Map	22	q13.1-q13.2	UniSTS
Cytogenetic Map	X	q28	UniSTS
Cytogenetic Map	12	q13-q14	UniSTS
Cytogenetic Map	6	q14.1	UniSTS
Cytogenetic Map	12	q13.3	UniSTS
Cytogenetic Map	9	q31.2	UniSTS
Cytogenetic Map	11	q13.1-q13.2	UniSTS
Cytogenetic Map	12	q13	UniSTS
Cytogenetic Map	1	p32-p31	UniSTS
Cytogenetic Map	21	q21.2	UniSTS
Cytogenetic Map	10	q24.3	UniSTS
Cytogenetic Map	16	q21	UniSTS
Cytogenetic Map	8	q21.1	UniSTS
Cytogenetic Map	5	p13.2	UniSTS
Cytogenetic Map	1	p34	UniSTS
Cytogenetic Map	1	q32.2	UniSTS
Cytogenetic Map	4	q21.3	UniSTS
Cytogenetic Map	7	q21-q22	UniSTS
Cytogenetic Map	3	q26.2	UniSTS
Cytogenetic Map	2	q36.3	UniSTS
Cytogenetic Map	8	p22	UniSTS
Cytogenetic Map	11	q22.1	UniSTS
Cytogenetic Map	3	q25.33	UniSTS
Cytogenetic Map	10	q23.31	UniSTS
Cytogenetic Map	4	p15.32	UniSTS
Cytogenetic Map	18	q12.2	UniSTS
Cytogenetic Map	15	q15.2	UniSTS
Cytogenetic Map	5	q12.3	UniSTS
Cytogenetic Map	14	q24.1	UniSTS
Cytogenetic Map	12	q14.1	UniSTS
Cytogenetic Map	6	p22.3-p22.1	UniSTS
Cytogenetic Map	7	p11.2	UniSTS
Cytogenetic Map	6	q15	UniSTS
Cytogenetic Map	6	q23.3	UniSTS
Cytogenetic Map	13	q14	UniSTS
Cytogenetic Map	5	q35.2	UniSTS
Cytogenetic Map	10	q22.3	UniSTS
Cytogenetic Map	1	p35	UniSTS
Cytogenetic Map	3	q12.3	UniSTS
Cytogenetic Map	19	q13.31	UniSTS
Cytogenetic Map	8	q23.1	UniSTS
Cytogenetic Map	6	q27	UniSTS
Cytogenetic Map	2	q14.3	UniSTS
Cytogenetic Map	X	p11	UniSTS
Cytogenetic Map	11	p15.3	UniSTS
Cytogenetic Map	20	p12	UniSTS
Cytogenetic Map	15	q13.1	UniSTS
Cytogenetic Map	X	p22.3	UniSTS
Cytogenetic Map	11	q13.5	UniSTS
Cytogenetic Map	19	p13.3-p13.2	UniSTS
Cytogenetic Map	1	p36.11-p34.2	UniSTS
Cytogenetic Map	4	q22.1-q23	UniSTS
Cytogenetic Map	7	q22.3	UniSTS
Cytogenetic Map	9	p22	UniSTS
Cytogenetic Map	17	q23.3	UniSTS
Cytogenetic Map	16	q23.2	UniSTS
Cytogenetic Map	2	p16.1	UniSTS
Cytogenetic Map	3	q27.1	UniSTS
Cytogenetic Map	2	p22.3	UniSTS
Cytogenetic Map	X	q26.1	UniSTS
Cytogenetic Map	4	q21.21	UniSTS
Cytogenetic Map	22	q13.3	UniSTS
Cytogenetic Map	2	q32.1	UniSTS
Cytogenetic Map	Y	p11.32	UniSTS
Cytogenetic Map	11	p14	UniSTS
Cytogenetic Map	1	p32.1	UniSTS
Cytogenetic Map	2	p25.3	UniSTS
Cytogenetic Map	4	q34.3	UniSTS
Cytogenetic Map	9	p12	UniSTS
Cytogenetic Map	3	q13.13	UniSTS
Cytogenetic Map	13	q34	UniSTS
Cytogenetic Map	3	p21	UniSTS
Cytogenetic Map	11	q23.2	UniSTS
Cytogenetic Map	20	p11.23	UniSTS
Cytogenetic Map	3	p13	UniSTS
Cytogenetic Map	4	p13	UniSTS
Cytogenetic Map	16	q23.1	UniSTS
Cytogenetic Map	10	p11.23	UniSTS
Cytogenetic Map	8	p21.1	UniSTS
Cytogenetic Map	15	q22-q24	UniSTS
Cytogenetic Map	8	q23	UniSTS
Cytogenetic Map	16	q12.1	UniSTS
Cytogenetic Map	14	q13.2	UniSTS
Cytogenetic Map	18	q12.1	UniSTS
Cytogenetic Map	5	q31.3	UniSTS
Cytogenetic Map	11	q14	UniSTS
Cytogenetic Map	13	q33.1	UniSTS
Cytogenetic Map	14	q21.2	UniSTS
Cytogenetic Map	4	q31.3	UniSTS
Cytogenetic Map	15	q21-q22	UniSTS
Cytogenetic Map	3	p14.3	UniSTS
Cytogenetic Map	17	p13.1	UniSTS
Cytogenetic Map	13	q12.11	UniSTS
Cytogenetic Map	6	p21.2	UniSTS
Cytogenetic Map	15	q21.3	UniSTS
Cytogenetic Map	3	q21.1	UniSTS
Cytogenetic Map	6	p21.31	UniSTS
Cytogenetic Map	10	p15.1	UniSTS
Cytogenetic Map	1	q24.2	UniSTS
Cytogenetic Map	12	p12	UniSTS
Cytogenetic Map	7	p22.1	UniSTS
Cytogenetic Map	11	q24	UniSTS
Cytogenetic Map	21	q22.13	UniSTS
Cytogenetic Map	15	q22.1-q22.31	UniSTS
Cytogenetic Map	15	q22	UniSTS
Cytogenetic Map	X	q13	UniSTS
Cytogenetic Map	1	q31-q41	UniSTS
Cytogenetic Map	6	p25	UniSTS
Cytogenetic Map	14	q32.1	UniSTS
Cytogenetic Map	16	q12-q13	UniSTS
Cytogenetic Map	X	q12-q13	UniSTS
Cytogenetic Map	14	q23	UniSTS
Cytogenetic Map	12	q11-q12	UniSTS
Cytogenetic Map	1	q42.1-q43	UniSTS
Cytogenetic Map	3	q13.33	UniSTS
Cytogenetic Map	7	q31	UniSTS
Cytogenetic Map	12	q24	UniSTS
Cytogenetic Map	X	p22.11	UniSTS
Cytogenetic Map	11	q13.4	UniSTS
Cytogenetic Map	2	p25.1-p24.1	UniSTS
Cytogenetic Map	8	q24.21	UniSTS
Cytogenetic Map	12	q13.1	UniSTS
Cytogenetic Map	12	q22-q23.1	UniSTS
Cytogenetic Map	11	q12.2	UniSTS
Cytogenetic Map	1	p13.2	UniSTS
Cytogenetic Map	5	q31.2-q34	UniSTS
Cytogenetic Map	11	p15.1	UniSTS
Cytogenetic Map	6	q24.2	UniSTS
Cytogenetic Map	22	q	UniSTS
Cytogenetic Map	12	q13.11-q14.3	UniSTS
Cytogenetic Map	7	p11	UniSTS
Cytogenetic Map	X	p22.12-p22.11	UniSTS
Cytogenetic Map	7	q11.21	UniSTS
Cytogenetic Map	20	q11.22-q11.23	UniSTS
Cytogenetic Map	8	q24.22	UniSTS
Cytogenetic Map	8	p22-p21.3	UniSTS
Cytogenetic Map	10	q24	UniSTS
Cytogenetic Map	1	q21.2-q21.3	UniSTS
Cytogenetic Map	1	p36.12	UniSTS
Cytogenetic Map	9	p24.1	UniSTS
Cytogenetic Map	6	q25.2-q27	UniSTS
Cytogenetic Map	9	q34	UniSTS
Cytogenetic Map	5	p13.1	UniSTS
Cytogenetic Map	8	q11.2	UniSTS
Cytogenetic Map	3	q28-q29	UniSTS
Cytogenetic Map	7	p14-p13	UniSTS
Cytogenetic Map	12	q24.2	UniSTS
Cytogenetic Map	6	p22.2	UniSTS
Cytogenetic Map	7	q22-qter	UniSTS
Cytogenetic Map	12	q24.2-q24.31	UniSTS
Cytogenetic Map	X	q13.1	UniSTS
Cytogenetic Map	6	p25.2	UniSTS
Cytogenetic Map	1	p21	UniSTS
Cytogenetic Map	1	q32.2-q41	UniSTS
Cytogenetic Map	11	q22-q23	UniSTS
Cytogenetic Map	3	q26.33	UniSTS
Cytogenetic Map	12	q23-q24.1	UniSTS
Cytogenetic Map	5	p15.1-p14.3	UniSTS
Cytogenetic Map	16	p13.11	UniSTS
Cytogenetic Map	6	q22-q23	UniSTS
Cytogenetic Map	9	p21	UniSTS
Cytogenetic Map	6	p12.3	UniSTS
Cytogenetic Map	3	p12.1	UniSTS
Cytogenetic Map	9	q21.11	UniSTS
Cytogenetic Map	17	q24.1	UniSTS
Cytogenetic Map	10	q11.21	UniSTS
Cytogenetic Map	14	q21	UniSTS
Cytogenetic Map	11	p15	UniSTS
Cytogenetic Map	16	q22	UniSTS
Cytogenetic Map	15	q11-q13	UniSTS
Cytogenetic Map	13	q12-q14	UniSTS
Cytogenetic Map	18	q21.1	UniSTS
Cytogenetic Map	2	q24	UniSTS
Cytogenetic Map	12	p13	UniSTS
Cytogenetic Map	3	q28	UniSTS
Cytogenetic Map	7	q32.1	UniSTS
Cytogenetic Map	X	q22.2	UniSTS
Cytogenetic Map	7	p12.3	UniSTS
Cytogenetic Map	7	p15.1	UniSTS
Cytogenetic Map	2	q37.2	UniSTS
Cytogenetic Map	18	q22.3	UniSTS
Cytogenetic Map	14	q32.13	UniSTS
Cytogenetic Map	14	q22.1	UniSTS
Cytogenetic Map	16	p13.1	UniSTS
Cytogenetic Map	7	q31.3	UniSTS
Cytogenetic Map	20	q13.2-q13.3	UniSTS
Cytogenetic Map	1	p21.2	UniSTS
Cytogenetic Map	9	q21.33	UniSTS
Cytogenetic Map	14	q32.2	UniSTS
Cytogenetic Map	13	q13.3	UniSTS
Cytogenetic Map	10	p12.31	UniSTS
Cytogenetic Map	22	q11.1	UniSTS
Cytogenetic Map	5	q33.2	UniSTS
Cytogenetic Map	13	q32.2	UniSTS
Cytogenetic Map	14	q23.1	UniSTS
Cytogenetic Map	8	q21.2	UniSTS
Cytogenetic Map	2	q24.1	UniSTS
Cytogenetic Map	10	q26.13	UniSTS
Cytogenetic Map	2	q23.3	UniSTS
Cytogenetic Map	19	p13.1	UniSTS
Cytogenetic Map	15	q14-q15	UniSTS
Cytogenetic Map	1	q42.13	UniSTS
Cytogenetic Map	14	q31	UniSTS
Cytogenetic Map	7	p21.1	UniSTS
Cytogenetic Map	8	p12-p11	UniSTS
Cytogenetic Map	18	p11.2	UniSTS
Cytogenetic Map	7	p11.1	UniSTS
Cytogenetic Map	1	q31-q32	UniSTS
Cytogenetic Map	2	q12	UniSTS
Cytogenetic Map	3	p21.32	UniSTS
Cytogenetic Map	2	p24.2	UniSTS
Cytogenetic Map	2	q33-q34	UniSTS
Cytogenetic Map	6	q24.1	UniSTS
Cytogenetic Map	4	q22.1	UniSTS
Cytogenetic Map	15	q13.3	UniSTS
Cytogenetic Map	10	q26.11	UniSTS
Cytogenetic Map	7	p15.3	UniSTS
Cytogenetic Map	10	q23.33	UniSTS
Cytogenetic Map	12	p12.1	UniSTS
Cytogenetic Map	7	p13-p12	UniSTS
Cytogenetic Map	X	q25	UniSTS
Cytogenetic Map	17	q11-q21	UniSTS
Cytogenetic Map	12	q23	UniSTS
Cytogenetic Map	6	p24-p22.3	UniSTS
Cytogenetic Map	14	q23.2	UniSTS
Cytogenetic Map	7	q31.1-q31.2	UniSTS
Cytogenetic Map	8	q22.2	UniSTS
Cytogenetic Map	15	q21.2	UniSTS
Cytogenetic Map	3	p26.1-p25.1	UniSTS
Cytogenetic Map	5	q35	UniSTS
Cytogenetic Map	3	q13.2	UniSTS
Cytogenetic Map	4	p15.2	UniSTS
Cytogenetic Map	6	q16.3	UniSTS
Cytogenetic Map	17	q24-q25	UniSTS
Cytogenetic Map	X	q12	UniSTS
Cytogenetic Map	X	q27.1	UniSTS
Cytogenetic Map	8	q12.3	UniSTS
Cytogenetic Map	5	q21.2	UniSTS
Cytogenetic Map	5	q15	UniSTS
Cytogenetic Map	5	q35.1	UniSTS
Cytogenetic Map	4	q13.3	UniSTS
Cytogenetic Map	4	q35.2	UniSTS
Cytogenetic Map	3	p26.1	UniSTS
Cytogenetic Map	3	p11.1	UniSTS
Cytogenetic Map	17	q21.2	UniSTS
Cytogenetic Map	2	q21.2	UniSTS
Cytogenetic Map	19	p13.13	UniSTS
Cytogenetic Map	18	q12.3	UniSTS
Cytogenetic Map	18	p11.3	UniSTS
Cytogenetic Map	17	q11.1	UniSTS
Cytogenetic Map	15	q25.1	UniSTS
Cytogenetic Map	13	q12.3	UniSTS
Cytogenetic Map	12	q23.2	UniSTS
Cytogenetic Map	12	q12-q13	UniSTS
Cytogenetic Map	12	q14	UniSTS
Cytogenetic Map	5	q33.1	UniSTS
Cytogenetic Map	2	q32-q34	UniSTS
Cytogenetic Map	16	q22.3	UniSTS
Cytogenetic Map	2	p15-p13	UniSTS
Cytogenetic Map	X	p11.4	UniSTS
Cytogenetic Map	19	q13.33-q13.41	UniSTS
Cytogenetic Map	20	p11	UniSTS
Cytogenetic Map	6	q23-q24	UniSTS
Cytogenetic Map	2	p12	UniSTS
Cytogenetic Map	2	p13	UniSTS
Cytogenetic Map	13	q11-q12	UniSTS
Cytogenetic Map	6	p12.3-p11.2	UniSTS
Cytogenetic Map	6	q16.1-q16.3	UniSTS
Cytogenetic Map	22	q11	UniSTS
Cytogenetic Map	7	q31.2	UniSTS
Cytogenetic Map	10	q21.3	UniSTS
Cytogenetic Map	3	q25.2	UniSTS
Cytogenetic Map	3	p21.1-p14.3	UniSTS
Cytogenetic Map	6	p12.1	UniSTS
Cytogenetic Map	3	q23-q24	UniSTS
Cytogenetic Map	3	q12	UniSTS
Cytogenetic Map	7	q11.1	UniSTS
Cytogenetic Map	3	q22.3	UniSTS
Cytogenetic Map	7	q21.3	UniSTS
Cytogenetic Map	4	q31.1	UniSTS
Cytogenetic Map	22	q12-q13	UniSTS
Cytogenetic Map	4	q23	UniSTS
Cytogenetic Map	X	p22.12	UniSTS
Cytogenetic Map	6	q16.1	UniSTS
Cytogenetic Map	13	q14.13	UniSTS
Cytogenetic Map	18	q21.3	UniSTS
Cytogenetic Map	9	q33.2	UniSTS
Cytogenetic Map	11	q21	UniSTS
Cytogenetic Map	8	q12	UniSTS
Cytogenetic Map	4	q28-q32	UniSTS
Cytogenetic Map	17	q24.3	UniSTS
Cytogenetic Map	6	p23	UniSTS
Cytogenetic Map	8	p11	UniSTS
Cytogenetic Map	5	q34	UniSTS
Cytogenetic Map	1	q24.3	UniSTS
Cytogenetic Map	9	q33.1	UniSTS
Cytogenetic Map	1	q23.3	UniSTS
Cytogenetic Map	2	p16.2	UniSTS
Cytogenetic Map	9	q22.31	UniSTS
Cytogenetic Map	9	p24.3	UniSTS
Cytogenetic Map	7	q35	UniSTS
Cytogenetic Map	1	p36.2	UniSTS
Cytogenetic Map	11	q22.3	UniSTS
Cytogenetic Map	16	p12	UniSTS
Cytogenetic Map	1	q22-q23	UniSTS
Cytogenetic Map	13	q22.1	UniSTS
Cytogenetic Map	2	q12.2	UniSTS
Cytogenetic Map	8	p12	UniSTS
Cytogenetic Map	4	q21	UniSTS
Cytogenetic Map	13	q12.2	UniSTS
Cytogenetic Map	9	q31-q33	UniSTS
Cytogenetic Map	6	p24.1	UniSTS
Cytogenetic Map	1	q23	UniSTS
Cytogenetic Map	11	q12-q13	UniSTS
Cytogenetic Map	11	q13.3	UniSTS
Cytogenetic Map	11	q24.2	UniSTS
Cytogenetic Map	11	q12.1	UniSTS
Cytogenetic Map	3	p26	UniSTS
Cytogenetic Map	5	q13	UniSTS
Cytogenetic Map	8	p21	UniSTS
Cytogenetic Map	19	q13.1-q13.2	UniSTS
Cytogenetic Map	1	p33-p32	UniSTS
Cytogenetic Map	7	q36.2	UniSTS
Cytogenetic Map	4	q32.3	UniSTS
Cytogenetic Map	16	p13.2	UniSTS
Cytogenetic Map	14	q32	UniSTS
Cytogenetic Map	10	q11.23	UniSTS
Cytogenetic Map	10	q26.1	UniSTS
Cytogenetic Map	9	q32-q33.3	UniSTS
Cytogenetic Map	9	q22.1-q22.2	UniSTS
Cytogenetic Map	3	q26.1-q26.2	UniSTS
Cytogenetic Map	5	q31-q34	UniSTS
Cytogenetic Map	9	q33-q34	UniSTS
Cytogenetic Map	5	q11.2-q13.2	UniSTS
Cytogenetic Map	13	q32	UniSTS
Cytogenetic Map	9	q22.32	UniSTS
Cytogenetic Map	1	p36.3	UniSTS
Cytogenetic Map	1	p36.3-p36.2	UniSTS
Cytogenetic Map	4	q28.1	UniSTS
Cytogenetic Map	5	q22	UniSTS
Cytogenetic Map	12	p11.21	UniSTS
Cytogenetic Map	X	q13.3	UniSTS
Cytogenetic Map	9	q31.3	UniSTS
Cytogenetic Map	3	p26.3	UniSTS
Cytogenetic Map	2	q11.1	UniSTS
Cytogenetic Map	21	q11.2	UniSTS
Cytogenetic Map	18	q21.32	UniSTS
Cytogenetic Map	15	q26.2	UniSTS
Cytogenetic Map	12	q24.23	UniSTS
Cytogenetic Map	10	q25.3	UniSTS
Cytogenetic Map	20	q11.23	UniSTS
Cytogenetic Map	20	p12.1	UniSTS
Cytogenetic Map	2	q31.1-q31.2	UniSTS
Cytogenetic Map	X	p22.31	UniSTS
Cytogenetic Map	X	p21.3	UniSTS
Cytogenetic Map	5	q33.3	UniSTS
Cytogenetic Map	4	q28.2	UniSTS
Cytogenetic Map	3	p14.2	UniSTS
Cytogenetic Map	3	q24	UniSTS
Cytogenetic Map	2	q13	UniSTS
Cytogenetic Map	20	q13.2	UniSTS
Cytogenetic Map	14	q11.2-q12	UniSTS
Cytogenetic Map	3	p24	UniSTS
Cytogenetic Map	12	q23.3	UniSTS
Cytogenetic Map	11	q24.3	UniSTS
Cytogenetic Map	11	q14.3	UniSTS
Cytogenetic Map	10	q25.2	UniSTS
Cytogenetic Map	3	q25.1	UniSTS
Cytogenetic Map	8	q13	UniSTS
Cytogenetic Map	1	p22.2	UniSTS
Cytogenetic Map	3	p22.3	UniSTS
Cytogenetic Map	18	q11.1	UniSTS
Cytogenetic Map	8	q23.3	UniSTS
Cytogenetic Map	15	q24	UniSTS
Cytogenetic Map	11	cen-q12	UniSTS
Cytogenetic Map	11	q25	UniSTS
Cytogenetic Map	3	p22.2	UniSTS
Cytogenetic Map	X	p21.1	UniSTS
Cytogenetic Map	7	q36	UniSTS
Cytogenetic Map	7	p14.3	UniSTS
Cytogenetic Map	12	q21	UniSTS
Cytogenetic Map	7	p15	UniSTS
Cytogenetic Map	7	q22-q31	UniSTS
Cytogenetic Map	11	q22	UniSTS
Cytogenetic Map	5	p15.3	UniSTS
Cytogenetic Map	20	q13.3-qter	UniSTS
Cytogenetic Map	1	p35-p34	UniSTS
Cytogenetic Map	4	p13-p12	UniSTS
Cytogenetic Map	10	q21-q22	UniSTS
Cytogenetic Map	4	q22	UniSTS
Cytogenetic Map	7	p13-p11.1	UniSTS
Cytogenetic Map	9	q31-q34	UniSTS
Cytogenetic Map	7	q21.1-q22	UniSTS
Cytogenetic Map	15	q26.1	UniSTS
Cytogenetic Map	3	q13.13-q13.2	UniSTS
Cytogenetic Map	X	p22.13	UniSTS
Cytogenetic Map	13	q12.12	UniSTS
Cytogenetic Map	13	q14.2	UniSTS
Cytogenetic Map	12	q	UniSTS
Cytogenetic Map	1	p	UniSTS
Cytogenetic Map	16	p	UniSTS
Cytogenetic Map	15	q	UniSTS
Cytogenetic Map	7	q	UniSTS
Cytogenetic Map	2	q	UniSTS
Cytogenetic Map	5	q13.1	UniSTS
Cytogenetic Map	11	p14.1	UniSTS
Cytogenetic Map	4	q32	UniSTS
Cytogenetic Map	2	p22	UniSTS
Cytogenetic Map	5	q14.3	UniSTS
Cytogenetic Map	10	p12.1	UniSTS
Cytogenetic Map	5	q23.2	UniSTS
Cytogenetic Map	2	p24.1	UniSTS
Cytogenetic Map	8	q24.13	UniSTS
Cytogenetic Map	12	p13.32	UniSTS
Cytogenetic Map	9	p21.1	UniSTS
Cytogenetic Map	9	q34.2-q34.3	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
492	1016	786	805	1673	1439	1691	4	587	951	456	983	3259	2694	24	970	387	975	1091	140

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_023342	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001190906	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001190907	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_005989	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047420763	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054358870	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054358871	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054358872	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054358873	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC024082	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC083867	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH010056	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK058142	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK289425	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298421	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298428	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC130625	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC130627	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG210362	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB111926	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH236950	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471070	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FM160741	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FM160742	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FM160743	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z28339	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000242375 ⟹ ENSP00000242375

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	138,076,459 - 138,118,305 (+)	Ensembl

Ensembl Acc Id:

ENST00000411726 ⟹ ENSP00000402374

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	138,076,467 - 138,117,986 (+)	Ensembl

Ensembl Acc Id:

ENST00000432161 ⟹ ENSP00000389197

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	138,076,432 - 138,116,913 (+)	Ensembl

Ensembl Acc Id:

ENST00000438242 ⟹ ENSP00000397042

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	138,076,518 - 138,097,944 (+)	Ensembl

Ensembl Acc Id:

ENST00000468877

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	138,002,324 - 138,116,866 (+)	Ensembl

Ensembl Acc Id:

ENST00000470851

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	7	138,091,843 - 138,098,310 (+)	Ensembl

RefSeq Acc Id:

NM_001190906 ⟹ NP_001177835

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	138,076,459 - 138,118,305 (+)	NCBI
GRCh37	7	137,761,178 - 137,803,050 (+)	ENTREZGENE
HuRef	7	132,069,181 - 132,111,033 (+)	ENTREZGENE
CHM1_1	7	137,694,698 - 137,736,587 (+)	NCBI
T2T-CHM13v2.0	7	139,386,001 - 139,427,796 (+)	NCBI
CRA_TCAGchr7v2	7	137,106,397 - 137,148,256 (+)	ENTREZGENE

Sequence:

show sequence

ACCTTTCTAAAAAGACTCCCTGTGGTGTTCAGAATCACTCCTACAGTCAGGTTCTCCACAATGG
ATCTCAGTGCTGCAAGTCACCGCATACCTCTAAGTGATGGAAACAGCATTCCCATCATCGGACT
TGGTACCTACTCAGAACCTAAATCGACCCCTAAGGGAGCCTGTGCAACATCGGTGAAGGTTGCT
ATTGACACAGGGTACCGACATATTGATGGGGCCTACATCTACCAAAATGAACACGAAGTTGGGG
AGGCCATCAGGGAGAAGATAGCAGAAGGAAAGGTGCGGAGGGAAGATATCTTCTACTGTGGAAA
GCTATGGGCTACAAATCATGTCCCAGAGATGGTCCGCCCAACCCTGGAGAGGACACTCAGGGTC
CTCCAGCTAGATTATGTGGATCTTTACATCATTGAAGTACCCATGGCCTTTAAGCCAGGAGATG
AAATATACCCTAGAGATGAGAATGGCAAATGGTTATATCACAAGTCAAATCTGTGTGCCACTTG
GGAGGTTGAGTGCCATCCGTATTTCACCCAGCCAAAACTCTTGAAATTTTGCCAACAACATGAC
ATTGTCATTACTGCATATAGCCCTTTGGGGACCAGTAGGAATCCAATCTGGGTGAATGTTTCTT
CTCCACCTTTGTTAAAGGATGCACTTCTAAACTCATTGGGGAAAAGGTACAATAAGACAGCAGC
TCAAATTGTTTTGCGTTTCAACATCCAGCGAGGGGTGGTTGTCATTCCTAAAAGCTTTAATCTT
GAAAGGATCAAAGAAAATTTTCAGATCTTTGACTTTTCTCTCACTGAAGAAGAAATGAAGGACA
TTGAAGCCTTGAATAAAAATGTCCGCTTTGTAGAATTGCTCATGTGGCGCGATCATCCTGAATA
CCCATTTCATGATGAATACTGACTGCAGGGAGTTCCTGAACAGATTTTTCACTCCCACGAGTGC
CAAGACGGTGCAATGGGTAGTCCCCTAGATGTGAAAATGAAGAGAGAGGGTTTTACCATCCTGA
GAAGAAATAATGATGGAAACATGTTTAATGTTTGTGCAGTGTAAATGACTTTGACTCAGTCACA
TTGAAGTAAAAATATTAAAATCTGTTGAAATAACTCTTAGGAAATTATCAACTAATTTTTTCAG
ATCAGTATCTTCTAGATTCCAGACAGAAAAAAATTACACTTCAGAAAAGACATCAAAGGCAACA
TATGACAACAAGTAATTTATGAATCTGGGTAGTAGCGTTGGTAATCTGAGTTCTTTAAGGGTTA
ACAGGACAACGAAGTGCATGTGGCAGTGTGCTGGCAGTGGCCTTGAGGCTTTGGACCATTGGTT
ACAAAACAGACACAGCCAAGATAAGATCCACACACACATTATTAACAAGGAAGTGATTTGCTGC
ACCTTGAGTTGAGAGGGCTACATGTAGAAAAGTCTTAAAATAGAGCTAAACACCACAGTGGTCA
ACAAAGCCATCATAATGTTGGTGTTTGTTTCCCTCCAATGTATGTATGTTTAGTTTTTATCCAA
CCTGAGGAATGAAAACTTAACTGGATCTCTCTTGCATCCTTAAAGGGCCTGAGTCTCAACATGG
CTGCTGATCCATACTTACACATCTTACTGTCAATCTTGCCTACATTGATTATAGAACCACTATT
ACGTGAAAAGGCTTGAAACAACCAACATATACAAATAAAACCCTGCCTTGTAAAATAGTAAAAG
AGAAGCCATATATTGGCTTTTCTTCTTAACTTGGGAGATATATTGAAACAAGGTGCTTTATAAG
ATTATTGTACTTAAGACTTTAATAGTGTTACTTGGATAGCTTATATGAATTTTGAGAATTTTAT
ATGAATTTTGAGAAAGCAAGTTCAAAAGAACTCTGGTAATTTTCCTGTATGTACAATTTAAAGA
GTGAATAAGATTATTAGAATTCAGCAATAGAGATATATCTATTTTCAATTCAACTACAGAAATA
TATTTTATTGGCCGGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGG
GCAGATCAGGAGGTCAGGAGATCGAGACCATCTTGGCTAACAAGGTGAAACCCCGTCTCTACTA
AAAATACAAAAAATTAGCCAGGCGCGGTGGCGGGGGCCTGTAATCCCAGCTACTCAGGAGGCTG
AGGCAGAAGAATGGCATGAACCCGGGAGGAGGAGCTTGCAGTGAGCCGAGATAGCGCCACTGCA
GTCCGGCCTGGGTGAAAGAGCGAGACTCCGTCTCAAAAACAAAAAAAAAAGAAAAGAAATATAT
TTTATTCATTCACATTAGGTCACTGTCATACTGTCATAGGATGAGAGAGTTCTTCAAAAATTAT
GTTTTCCCAAGATCAGTTGCTTATAGATAATGTTCAATGACCTCAAGACATATATTTTTGAGAA
ATTATCATTTTAAAAAATTTGGTCTATACTGATTGTTTTCACTGATTCCAATATTATTACTTAT
AACACTGACCTCTGGAAAATATTTTGTTCACAAGAAATAATAAAGTATAATGATTTGTTGCATC
A

hide sequence

RefSeq Acc Id:

NM_001190907 ⟹ NP_001177836

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	138,076,459 - 138,118,305 (+)	NCBI
GRCh37	7	137,761,178 - 137,803,050 (+)	ENTREZGENE
HuRef	7	132,069,181 - 132,111,033 (+)	ENTREZGENE
CHM1_1	7	137,694,698 - 137,736,587 (+)	NCBI
T2T-CHM13v2.0	7	139,386,001 - 139,427,796 (+)	NCBI
CRA_TCAGchr7v2	7	137,106,397 - 137,148,256 (+)	ENTREZGENE

Sequence:

show sequence

ACCTTTCTAAAAAGACTCCCTGTGGTGTTCAGAATCACTCCTACAGTCAGGTTCTCCACAATGG
ATCTCAGTGCTGCAAGTCACCGCATACCTCTAAGTGATGGAAACAGCATTCCCATCATCGGACT
TGGTACCTACTCAGAACCTAAATCGACCCCTAAGGGAGCCTGTGCAACATCGGTGAAGGTTGCT
ATTGACACAGGGTACCGACATATTGATGGGGCCTACATCTACCAAAATGAACACGAAGTTGGGG
AGGCCATCAGGGAGAAGATAGCAGAAGGAAAGGTGCGGAGGGAAGATATCTTCTACTGTGGAAA
GCTATGGGCTACAAATCATGTCCCAGAGATGGTCCGCCCAACCCTGGAGAGGACACTCAGGGTC
CTCCAGCTAGATTATGTGGATCTTTACATCATTGAAGTACCCATGGCCTTTAAGCCAGGAGATG
AAATATACCCTAGAGATGAGAATGGCAAATGGTTATATCACAAGTCAAATCTGTGTGCCACTTG
GGAGGCGATGGAAGCTTGCAAAGACGCTGGCTTGGTGAAATCCCTGGGAGTGTCCAATTTTAAC
CGCAGGCAGCTGGAGCTCATCCTGAACAAGCCAGGACTCAAACACAAGCCAGTCAGCAACCAGG
TTGAGTGCCATCCGTATTTCACCCAGCCAAAACTCTTGAAATTTTGCCAACAACATGACATTGT
CATTACTGCATATAGCCCTTTGGGGACCAGTAGGAATCCAATCTGGGTGAATGTTTCTTCTCCA
CCTTTGTTAAAGGATGCACTTCTAAACTCATTGGGGAAAAGGTACAATAAGACAGCAGCTCAAA
TTGTTTTGCGTTTCAACATCCAGCGAGGGGTGGTTGTCATTCCTAAAAGCTTTAATCTTGAAAG
GATCAAAGAAAATTTTCAGGTGGCGCGATCATCCTGAATACCCATTTCATGATGAATACTGACT
GCAGGGAGTTCCTGAACAGATTTTTCACTCCCACGAGTGCCAAGACGGTGCAATGGGTAGTCCC
CTAGATGTGAAAATGAAGAGAGAGGGTTTTACCATCCTGAGAAGAAATAATGATGGAAACATGT
TTAATGTTTGTGCAGTGTAAATGACTTTGACTCAGTCACATTGAAGTAAAAATATTAAAATCTG
TTGAAATAACTCTTAGGAAATTATCAACTAATTTTTTCAGATCAGTATCTTCTAGATTCCAGAC
AGAAAAAAATTACACTTCAGAAAAGACATCAAAGGCAACATATGACAACAAGTAATTTATGAAT
CTGGGTAGTAGCGTTGGTAATCTGAGTTCTTTAAGGGTTAACAGGACAACGAAGTGCATGTGGC
AGTGTGCTGGCAGTGGCCTTGAGGCTTTGGACCATTGGTTACAAAACAGACACAGCCAAGATAA
GATCCACACACACATTATTAACAAGGAAGTGATTTGCTGCACCTTGAGTTGAGAGGGCTACATG
TAGAAAAGTCTTAAAATAGAGCTAAACACCACAGTGGTCAACAAAGCCATCATAATGTTGGTGT
TTGTTTCCCTCCAATGTATGTATGTTTAGTTTTTATCCAACCTGAGGAATGAAAACTTAACTGG
ATCTCTCTTGCATCCTTAAAGGGCCTGAGTCTCAACATGGCTGCTGATCCATACTTACACATCT
TACTGTCAATCTTGCCTACATTGATTATAGAACCACTATTACGTGAAAAGGCTTGAAACAACCA
ACATATACAAATAAAACCCTGCCTTGTAAAATAGTAAAAGAGAAGCCATATATTGGCTTTTCTT
CTTAACTTGGGAGATATATTGAAACAAGGTGCTTTATAAGATTATTGTACTTAAGACTTTAATA
GTGTTACTTGGATAGCTTATATGAATTTTGAGAATTTTATATGAATTTTGAGAAAGCAAGTTCA
AAAGAACTCTGGTAATTTTCCTGTATGTACAATTTAAAGAGTGAATAAGATTATTAGAATTCAG
CAATAGAGATATATCTATTTTCAATTCAACTACAGAAATATATTTTATTGGCCGGGTGCGGTGG
CTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGATCAGGAGGTCAGGAGATCG
AGACCATCTTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCG
CGGTGGCGGGGGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATGGCATGAACCCG
GGAGGAGGAGCTTGCAGTGAGCCGAGATAGCGCCACTGCAGTCCGGCCTGGGTGAAAGAGCGAG
ACTCCGTCTCAAAAACAAAAAAAAAAGAAAAGAAATATATTTTATTCATTCACATTAGGTCACT
GTCATACTGTCATAGGATGAGAGAGTTCTTCAAAAATTATGTTTTCCCAAGATCAGTTGCTTAT
AGATAATGTTCAATGACCTCAAGACATATATTTTTGAGAAATTATCATTTTAAAAAATTTGGTC
TATACTGATTGTTTTCACTGATTCCAATATTATTACTTATAACACTGACCTCTGGAAAATATTT
TGTTCACAAGAAATAATAAAGTATAATGATTTGTTGCATCA

hide sequence

RefSeq Acc Id:

NM_005989 ⟹ NP_005980

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	138,076,459 - 138,118,305 (+)	NCBI
GRCh37	7	137,761,178 - 137,803,050 (+)	ENTREZGENE
Build 36	7	137,411,736 - 137,453,590 (+)	NCBI Archive
HuRef	7	132,069,181 - 132,111,033 (+)	ENTREZGENE
CHM1_1	7	137,694,698 - 137,736,587 (+)	NCBI
T2T-CHM13v2.0	7	139,386,001 - 139,427,796 (+)	NCBI
CRA_TCAGchr7v2	7	137,106,397 - 137,148,256 (+)	ENTREZGENE

Sequence:

show sequence

ACCTTTCTAAAAAGACTCCCTGTGGTGTTCAGAATCACTCCTACAGTCAGGTTCTCCACAATGG
ATCTCAGTGCTGCAAGTCACCGCATACCTCTAAGTGATGGAAACAGCATTCCCATCATCGGACT
TGGTACCTACTCAGAACCTAAATCGACCCCTAAGGGAGCCTGTGCAACATCGGTGAAGGTTGCT
ATTGACACAGGGTACCGACATATTGATGGGGCCTACATCTACCAAAATGAACACGAAGTTGGGG
AGGCCATCAGGGAGAAGATAGCAGAAGGAAAGGTGCGGAGGGAAGATATCTTCTACTGTGGAAA
GCTATGGGCTACAAATCATGTCCCAGAGATGGTCCGCCCAACCCTGGAGAGGACACTCAGGGTC
CTCCAGCTAGATTATGTGGATCTTTACATCATTGAAGTACCCATGGCCTTTAAGCCAGGAGATG
AAATATACCCTAGAGATGAGAATGGCAAATGGTTATATCACAAGTCAAATCTGTGTGCCACTTG
GGAGGCGATGGAAGCTTGCAAAGACGCTGGCTTGGTGAAATCCCTGGGAGTGTCCAATTTTAAC
CGCAGGCAGCTGGAGCTCATCCTGAACAAGCCAGGACTCAAACACAAGCCAGTCAGCAACCAGG
TTGAGTGCCATCCGTATTTCACCCAGCCAAAACTCTTGAAATTTTGCCAACAACATGACATTGT
CATTACTGCATATAGCCCTTTGGGGACCAGTAGGAATCCAATCTGGGTGAATGTTTCTTCTCCA
CCTTTGTTAAAGGATGCACTTCTAAACTCATTGGGGAAAAGGTACAATAAGACAGCAGCTCAAA
TTGTTTTGCGTTTCAACATCCAGCGAGGGGTGGTTGTCATTCCTAAAAGCTTTAATCTTGAAAG
GATCAAAGAAAATTTTCAGATCTTTGACTTTTCTCTCACTGAAGAAGAAATGAAGGACATTGAA
GCCTTGAATAAAAATGTCCGCTTTGTAGAATTGCTCATGTGGCGCGATCATCCTGAATACCCAT
TTCATGATGAATACTGACTGCAGGGAGTTCCTGAACAGATTTTTCACTCCCACGAGTGCCAAGA
CGGTGCAATGGGTAGTCCCCTAGATGTGAAAATGAAGAGAGAGGGTTTTACCATCCTGAGAAGA
AATAATGATGGAAACATGTTTAATGTTTGTGCAGTGTAAATGACTTTGACTCAGTCACATTGAA
GTAAAAATATTAAAATCTGTTGAAATAACTCTTAGGAAATTATCAACTAATTTTTTCAGATCAG
TATCTTCTAGATTCCAGACAGAAAAAAATTACACTTCAGAAAAGACATCAAAGGCAACATATGA
CAACAAGTAATTTATGAATCTGGGTAGTAGCGTTGGTAATCTGAGTTCTTTAAGGGTTAACAGG
ACAACGAAGTGCATGTGGCAGTGTGCTGGCAGTGGCCTTGAGGCTTTGGACCATTGGTTACAAA
ACAGACACAGCCAAGATAAGATCCACACACACATTATTAACAAGGAAGTGATTTGCTGCACCTT
GAGTTGAGAGGGCTACATGTAGAAAAGTCTTAAAATAGAGCTAAACACCACAGTGGTCAACAAA
GCCATCATAATGTTGGTGTTTGTTTCCCTCCAATGTATGTATGTTTAGTTTTTATCCAACCTGA
GGAATGAAAACTTAACTGGATCTCTCTTGCATCCTTAAAGGGCCTGAGTCTCAACATGGCTGCT
GATCCATACTTACACATCTTACTGTCAATCTTGCCTACATTGATTATAGAACCACTATTACGTG
AAAAGGCTTGAAACAACCAACATATACAAATAAAACCCTGCCTTGTAAAATAGTAAAAGAGAAG
CCATATATTGGCTTTTCTTCTTAACTTGGGAGATATATTGAAACAAGGTGCTTTATAAGATTAT
TGTACTTAAGACTTTAATAGTGTTACTTGGATAGCTTATATGAATTTTGAGAATTTTATATGAA
TTTTGAGAAAGCAAGTTCAAAAGAACTCTGGTAATTTTCCTGTATGTACAATTTAAAGAGTGAA
TAAGATTATTAGAATTCAGCAATAGAGATATATCTATTTTCAATTCAACTACAGAAATATATTT
TATTGGCCGGGTGCGGTGGCTCATGCCTATAATCCCAGCACTTTGGGAGGCCAAGGTGGGCAGA
TCAGGAGGTCAGGAGATCGAGACCATCTTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT
ACAAAAAATTAGCCAGGCGCGGTGGCGGGGGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA
GAAGAATGGCATGAACCCGGGAGGAGGAGCTTGCAGTGAGCCGAGATAGCGCCACTGCAGTCCG
GCCTGGGTGAAAGAGCGAGACTCCGTCTCAAAAACAAAAAAAAAAGAAAAGAAATATATTTTAT
TCATTCACATTAGGTCACTGTCATACTGTCATAGGATGAGAGAGTTCTTCAAAAATTATGTTTT
CCCAAGATCAGTTGCTTATAGATAATGTTCAATGACCTCAAGACATATATTTTTGAGAAATTAT
CATTTTAAAAAATTTGGTCTATACTGATTGTTTTCACTGATTCCAATATTATTACTTATAACAC
TGACCTCTGGAAAATATTTTGTTCACAAGAAATAATAAAGTATAATGATTTGTTGCATCA

hide sequence

RefSeq Acc Id:

XM_047420763 ⟹ XP_047276719

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	138,076,459 - 138,118,305 (+)	NCBI

RefSeq Acc Id:

XM_054358870 ⟹ XP_054214845

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	139,311,690 - 139,427,796 (+)	NCBI

RefSeq Acc Id:

XM_054358871 ⟹ XP_054214846

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	139,374,490 - 139,427,796 (+)	NCBI

RefSeq Acc Id:

XM_054358872 ⟹ XP_054214847

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	139,374,587 - 139,427,796 (+)	NCBI

RefSeq Acc Id:

XM_054358873 ⟹ XP_054214848

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	7	139,374,490 - 139,427,796 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001177835	(Get FASTA)	NCBI Sequence Viewer
	NP_001177836	(Get FASTA)	NCBI Sequence Viewer
	NP_005980	(Get FASTA)	NCBI Sequence Viewer
	XP_047276719	(Get FASTA)	NCBI Sequence Viewer
	XP_054214845	(Get FASTA)	NCBI Sequence Viewer
	XP_054214846	(Get FASTA)	NCBI Sequence Viewer
	XP_054214847	(Get FASTA)	NCBI Sequence Viewer
	XP_054214848	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAG39381	(Get FASTA)	NCBI Sequence Viewer
	AAI30626	(Get FASTA)	NCBI Sequence Viewer
	AAI30628	(Get FASTA)	NCBI Sequence Viewer
	BAB71682	(Get FASTA)	NCBI Sequence Viewer
	BAF82114	(Get FASTA)	NCBI Sequence Viewer
	BAG60645	(Get FASTA)	NCBI Sequence Viewer
	BAG60650	(Get FASTA)	NCBI Sequence Viewer
	CAA82193	(Get FASTA)	NCBI Sequence Viewer
	CAQ55951	(Get FASTA)	NCBI Sequence Viewer
	CAQ55952	(Get FASTA)	NCBI Sequence Viewer
	CAQ55953	(Get FASTA)	NCBI Sequence Viewer
	EAL24049	(Get FASTA)	NCBI Sequence Viewer
	EAW83881	(Get FASTA)	NCBI Sequence Viewer
	EAW83882	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000242375
	ENSP00000242375.3
	ENSP00000389197
	ENSP00000389197.1
	ENSP00000397042.1
	ENSP00000402374
	ENSP00000402374.2
GenBank Protein	P51857	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_005980 ⟸ NM_005989
- Peptide Label:	isoform 1
- UniProtKB:	B4DPN3 (UniProtKB/Swiss-Prot), A8K060 (UniProtKB/Swiss-Prot), A1L4P6 (UniProtKB/Swiss-Prot), B4DPN8 (UniProtKB/Swiss-Prot), P51857 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQNEHEV GEAIREKIAEGKVRREDIFYCGKLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIEVPMAFKPG DEIYPRDENGKWLYHKSNLCATWEAMEACKDAGLVKSLGVSNFNRRQLELILNKPGLKHKPVSN QVECHPYFTQPKLLKFCQQHDIVITAYSPLGTSRNPIWVNVSSPPLLKDALLNSLGKRYNKTAA QIVLRFNIQRGVVVIPKSFNLERIKENFQIFDFSLTEEEMKDIEALNKNVRFVELLMWRDHPEY PFHDEY hide sequence

RefSeq Acc Id:	NP_001177836 ⟸ NM_001190907
- Peptide Label:	isoform 3
- UniProtKB:	P51857 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQNEHEV GEAIREKIAEGKVRREDIFYCGKLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIEVPMAFKPG DEIYPRDENGKWLYHKSNLCATWEAMEACKDAGLVKSLGVSNFNRRQLELILNKPGLKHKPVSN QVECHPYFTQPKLLKFCQQHDIVITAYSPLGTSRNPIWVNVSSPPLLKDALLNSLGKRYNKTAA QIVLRFNIQRGVVVIPKSFNLERIKENFQVARSS hide sequence

RefSeq Acc Id:	NP_001177835 ⟸ NM_001190906
- Peptide Label:	isoform 2
- UniProtKB:	P51857 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDLSAASHRIPLSDGNSIPIIGLGTYSEPKSTPKGACATSVKVAIDTGYRHIDGAYIYQNEHEV GEAIREKIAEGKVRREDIFYCGKLWATNHVPEMVRPTLERTLRVLQLDYVDLYIIEVPMAFKPG DEIYPRDENGKWLYHKSNLCATWEVECHPYFTQPKLLKFCQQHDIVITAYSPLGTSRNPIWVNV SSPPLLKDALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIKENFQIFDFSLTEEEMK DIEALNKNVRFVELLMWRDHPEYPFHDEY hide sequence

Ensembl Acc Id:

ENSP00000397042 ⟸ ENST00000438242

Ensembl Acc Id:

ENSP00000402374 ⟸ ENST00000411726

Ensembl Acc Id:

ENSP00000242375 ⟸ ENST00000242375

Ensembl Acc Id:

ENSP00000389197 ⟸ ENST00000432161

RefSeq Acc Id:	XP_047276719 ⟸ XM_047420763
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054214845 ⟸ XM_054358870
- Peptide Label:	isoform X2
- UniProtKB:	B4DPN8 (UniProtKB/Swiss-Prot), P51857 (UniProtKB/Swiss-Prot), B4DPN3 (UniProtKB/Swiss-Prot), A8K060 (UniProtKB/Swiss-Prot), A1L4P6 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054214846 ⟸ XM_054358871
- Peptide Label:	isoform X2
- UniProtKB:	B4DPN8 (UniProtKB/Swiss-Prot), P51857 (UniProtKB/Swiss-Prot), B4DPN3 (UniProtKB/Swiss-Prot), A8K060 (UniProtKB/Swiss-Prot), A1L4P6 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:	XP_054214848 ⟸ XM_054358873
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054214847 ⟸ XM_054358872
- Peptide Label:	isoform X1

Protein Domains

NADP-dependent oxidoreductase

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P51857-F1-model_v2	AlphaFold	P51857	1-326	view protein structure

Promoters

RGD ID:

7212017

Promoter ID:

EPDNEW_H11755

Type:

initiation region

Name:

AKR1D1_1

Description:

aldo-keto reductase family 1 member D1

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	138,076,495 - 138,076,555	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:388	AgrOrtholog
COSMIC	AKR1D1	COSMIC
Ensembl Genes	ENSG00000122787	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000242375	ENTREZGENE
	ENST00000242375.8	UniProtKB/Swiss-Prot
	ENST00000411726	ENTREZGENE
	ENST00000411726.6	UniProtKB/Swiss-Prot
	ENST00000432161	ENTREZGENE
	ENST00000432161.5	UniProtKB/Swiss-Prot
	ENST00000438242.1	UniProtKB/TrEMBL
Gene3D-CATH	3.20.20.100	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000122787	GTEx
HGNC ID	HGNC:388	ENTREZGENE
Human Proteome Map	AKR1D1	Human Proteome Map
InterPro	AKR1D1	UniProtKB/Swiss-Prot
	Aldo/ket_reductase_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Aldo/keto_reductase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	NADP_OxRdtase_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	NADP_OxRdtase_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:6718	UniProtKB/Swiss-Prot
NCBI Gene	6718	ENTREZGENE
OMIM	604741	OMIM
PANTHER	ALDO-KETO REDUCTASE FAMILY 1 MEMBER D1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ALDO/KETO REDUCTASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Aldo_ket_red	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA24681	PharmGKB
PIRSF	AKR	UniProtKB/Swiss-Prot
PRINTS	ALDKETRDTASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	ALDOKETO_REDUCTASE_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ALDOKETO_REDUCTASE_2	UniProtKB/Swiss-Prot
	ALDOKETO_REDUCTASE_3	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF51430	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A1L4P6	ENTREZGENE
	A8K060	ENTREZGENE
	AK1D1_HUMAN	UniProtKB/Swiss-Prot
	B4DPN3	ENTREZGENE
	B4DPN8	ENTREZGENE
	C4PL35_HUMAN	UniProtKB/TrEMBL
	C4PL36_HUMAN	UniProtKB/TrEMBL
	C4PL37_HUMAN	UniProtKB/TrEMBL
	C9J3U1_HUMAN	UniProtKB/TrEMBL
	P51857	ENTREZGENE
UniProt Secondary	A1L4P6	UniProtKB/Swiss-Prot
	A8K060	UniProtKB/Swiss-Prot
	B4DPN3	UniProtKB/Swiss-Prot
	B4DPN8	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-08-09	AKR1D1	aldo-keto reductase family 1 member D1		aldo-keto reductase family 1, member D1	Symbol and/or name change	5135510	APPROVED
2012-12-12	AKR1D1	aldo-keto reductase family 1, member D1		aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar