NT5C3A (5'-nucleotidase, cytosolic IIIA)

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Gene: NT5C3A (5'-nucleotidase, cytosolic IIIA) Homo sapiens

Analyze

Symbol:

NT5C3A

Name:

5'-nucleotidase, cytosolic IIIA

RGD ID:

1323774

HGNC Page

HGNC

Description:

Exhibits 5'-nucleotidase activity. Involved in defense response to virus. Localizes to endoplasmic reticulum.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

5'-nucleotidase, cytosolic III; 7-methylguanosine nucleotidase; 7-methylguanosine phosphate-specific 5'-nucleotidase; cN-III; cytosolic 5'-nucleotidase 3; cytosolic 5'-nucleotidase 3A; cytosolic 5'-nucleotidase III; hUMP1; lupin; MGC27337; MGC87109; MGC87828; NT5C3; p36; P5'N-1; P5N-1; PN-I; POMP; PSN1; pyrimidine 5'-nucleotidase 1; UMPH; UMPH1; uridine 5' monophosphate hydrolase 1; uridine 5'-monophosphate hydrolase 1

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

Related Pseudogenes:

NT5C3AP1 NT5C3AP2

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.p13 Ensembl	7	33,014,114 - 33,062,797 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	7	33,014,113 - 33,062,776 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	7	33,053,725 - 33,102,409 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
GRCh37	7	33,053,725 - 33,102,388 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	33,020,267 - 33,068,934 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	7	32,826,996 - 32,853,758	NCBI
Celera	7	33,035,567 - 33,084,229 (-)	NCBI
Cytogenetic Map	7	p14.3	NCBI
HuRef	7	32,932,970 - 32,981,660 (-)	NCBI		HuRef
CHM1_1	7	33,053,595 - 33,102,290 (-)	NCBI		CHM1_1
CRA_TCAGchr7v2	7	33,098,270 - 33,146,958 (-)	NCBI

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Chloracne (EXP)

congenital nonspherocytic hemolytic anemia (EXP)

hemolytic anemia (IEA)

pleomorphic xanthoastrocytoma (IAGP)

Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

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

2,4-dinitrotoluene (ISO)

2-butoxyethanol (ISO)

2-hydroxypropanoic acid (EXP)

acetamide (ISO)

acrolein (EXP)

acrylamide (ISO)

aflatoxin B1 (EXP)

aflatoxin M1 (EXP)

alpha-pinene (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

cadmium dichloride (EXP)

carbon nanotube (ISO)

chromium(6+) (ISO)

cisplatin (ISO)

cobalt dichloride (ISO)

cyclosporin A (EXP)

dibutyl phthalate (ISO)

dicrotophos (EXP)

dioxygen (ISO)

fipronil (ISO)

lead(0) (EXP,ISO)

lead(2+) (EXP,ISO)

magnesium atom (ISO)

nickel sulfate (EXP)

ozone (EXP)

paracetamol (ISO)

perfluorooctanoic acid (EXP)

pirinixic acid (ISO)

potassium chromate (EXP)

rac-lactic acid (EXP)

resveratrol (ISO)

tetrachloromethane (ISO)

thalidomide (ISO)

tunicamycin (EXP)

valproic acid (EXP)

zidovudine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

adenosine metabolic process (IEA,ISO)

CMP catabolic process (ISO)

defense response to virus (IDA)

dephosphorylation (IEA)

nucleotide metabolic process (IEA)

pyrimidine nucleoside catabolic process (TAS)

pyrimidine nucleoside metabolic process (NAS)

Cellular Component

cytoplasm (IBA,IDA,IEA)

cytosol (TAS)

endoplasmic reticulum (IDA)

Molecular Function

5'-nucleotidase activity (IBA,IDA,IEA,ISO,NAS)

magnesium ion binding (IEA,NAS)

nucleotide binding (IEA)

protein binding (IPI)

tRNA 2'-phosphotransferase activity (NAS,TAS)

Molecular Pathway Annotations Click to see Annotation Detail View

monoterpenoid biosynthetic pathway (IEA)

niacin metabolic pathway (IEA)

purine metabolic pathway (IEA)

pyrimidine metabolic pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autosomal recessive inheritance (IAGP)

Hemoglobinuria (IAGP)

Hemolytic anemia (IAGP)

References

References - curated


1.	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline
3.	Pipeline to import KEGG annotations from KEGG into RGD
4.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	RGD automated import pipeline for gene-chemical interactions
6.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:7818506	PMID:8557639	PMID:8889549	PMID:9428647	PMID:10942414	PMID:10984440	PMID:11042152	PMID:11076863	PMID:11230166	PMID:11369620	PMID:11795870	PMID:12418222
PMID:12477932	PMID:12714505	PMID:12930399	PMID:15238149	PMID:15489334	PMID:15489336	PMID:15604219	PMID:16344560	PMID:16381901	PMID:16712791	PMID:17349762	PMID:18499901
PMID:18775979	PMID:19623099	PMID:20877624	PMID:21478870	PMID:21873635	PMID:21988832	PMID:23139015	PMID:23223233	PMID:23284306	PMID:23824909	PMID:25000516	PMID:25153905
PMID:25910212	PMID:26186194	PMID:26288249	PMID:26496610	PMID:26972000	PMID:27381654	PMID:28514442	PMID:29463777	PMID:30833792	PMID:30951028	PMID:31073040	PMID:31617661
PMID:31796584	PMID:32296183	PMID:32877691

Genomics

Comparative Map Data

NT5C3A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	7	33,014,114 - 33,062,797 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	7	33,014,113 - 33,062,776 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	7	33,053,725 - 33,102,409 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
GRCh37	7	33,053,725 - 33,102,388 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	7	33,020,267 - 33,068,934 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	7	32,826,996 - 32,853,758	NCBI
Celera	7	33,035,567 - 33,084,229 (-)	NCBI
Cytogenetic Map	7	p14.3	NCBI
HuRef	7	32,932,970 - 32,981,660 (-)	NCBI		HuRef
CHM1_1	7	33,053,595 - 33,102,290 (-)	NCBI		CHM1_1
CRA_TCAGchr7v2	7	33,098,270 - 33,146,958 (-)	NCBI

Nt5c3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	56,859,385 - 56,900,993 (-)	NCBI	GRCm39		mm39
GRCm38	6	56,882,400 - 56,924,008 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	56,882,400 - 56,923,932 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	56,832,394 - 56,873,926 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	6	56,811,983 - 56,853,407 (-)	NCBI			mm8
Celera	6	57,644,243 - 57,685,811 (-)	NCBI		Celera
Cytogenetic Map	6	B3	NCBI

Nt5c3a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	4	86,161,642 - 86,204,671 (-)	NCBI
Rnor_6.0 Ensembl	4	87,237,949 - 87,281,157 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	4	87,238,325 - 87,281,234 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	4	151,889,315 - 151,932,213 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	85,870,878 - 85,913,812 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	4	86,114,353 - 86,157,335 (-)	NCBI
Celera	4	80,991,357 - 81,034,409 (-)	NCBI		Celera
Cytogenetic Map	4	q24	NCBI

Nt5c3a
(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_004955617	239,631 - 293,178 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955617	240,132 - 293,278 (-)	NCBI	ChiLan1.0	ChiLan1.0

NT5C3A
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	7	34,009,467 - 34,057,740 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	7	34,009,467 - 34,057,740 (-)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	7	33,608,746 - 33,657,380 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

NT5C3A
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	14	45,077,099 - 45,131,905 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	14	45,076,487 - 45,132,000 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

Nt5c3a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
SpeTri2.0	NW_004936478	8,785,984 - 8,834,776 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NT5C3A
(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	40,441,102 - 40,483,376 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	18	40,440,890 - 40,483,043 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	18	44,383,395 - 44,425,325 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NT5C3A
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	21	25,362,142 - 25,409,483 (+)	NCBI
ChlSab1.1 Ensembl	21	25,362,118 - 25,411,935 (+)	Ensembl

Nt5c3a
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624896	2,881,217 - 2,935,514 (+)	NCBI

Position Markers

D7S746

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	33,089,691 - 33,089,923	UniSTS	GRCh37
Build 36	7	33,056,216 - 33,056,448	RGD	NCBI36
Celera	7	33,071,514 - 33,071,746	RGD
Cytogenetic Map	7	p14.3	UniSTS
HuRef	7	32,968,927 - 32,969,159	UniSTS
CRA_TCAGchr7v2	7	33,134,239 - 33,134,471	UniSTS

RH99188

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	33,053,808 - 33,053,958	UniSTS	GRCh37
Build 36	7	33,020,333 - 33,020,483	RGD	NCBI36
Celera	7	33,035,633 - 33,035,783	RGD
Cytogenetic Map	7	p14.3	UniSTS
HuRef	7	32,933,053 - 32,933,203	UniSTS
CRA_TCAGchr7v2	7	33,098,353 - 33,098,503	UniSTS
GeneMap99-GB4 RH Map	7	152.57	UniSTS

ECD07134

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	118,496,341 - 118,497,030	UniSTS	GRCh37
Build 36	4	118,715,789 - 118,716,478	RGD	NCBI36
Celera	4	115,788,275 - 115,788,964	RGD
Cytogenetic Map	7	p14.3	UniSTS
Cytogenetic Map	4	q26	UniSTS
HuRef	4	114,232,052 - 114,232,741	UniSTS

ECD13033

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	33,053,818 - 33,054,341	UniSTS	GRCh37
GRCh37	4	118,495,725 - 118,496,252	UniSTS	GRCh37
Build 36	4	118,715,173 - 118,715,700	RGD	NCBI36
Celera	4	115,787,659 - 115,788,186	RGD
Celera	7	33,035,643 - 33,036,169	UniSTS
Cytogenetic Map	4	q26	UniSTS
Cytogenetic Map	7	p14.3	UniSTS
HuRef	7	32,933,063 - 32,933,590	UniSTS
HuRef	4	114,231,436 - 114,231,963	UniSTS
CRA_TCAGchr7v2	7	33,098,363 - 33,098,890	UniSTS

REN5352

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	33,053,968 - 33,054,200	UniSTS	GRCh37
GRCh37	4	118,495,875 - 118,496,111	UniSTS	GRCh37
Build 36	4	118,715,323 - 118,715,559	RGD	NCBI36
Celera	4	115,787,809 - 115,788,045	RGD
Celera	7	33,035,793 - 33,036,028	UniSTS
Cytogenetic Map	4	q26	UniSTS
Cytogenetic Map	7	p14.3	UniSTS
HuRef	7	32,933,213 - 32,933,449	UniSTS
HuRef	4	114,231,586 - 114,231,822	UniSTS
CRA_TCAGchr7v2	7	33,098,513 - 33,098,749	UniSTS

REN5354

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	118,496,337 - 118,496,600	UniSTS	GRCh37
Build 36	4	118,715,785 - 118,716,048	RGD	NCBI36
Celera	4	115,788,271 - 115,788,534	RGD
Cytogenetic Map	7	p14.3	UniSTS
Cytogenetic Map	4	q26	UniSTS
HuRef	4	114,232,048 - 114,232,311	UniSTS

REN5355

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	118,496,577 - 118,496,818	UniSTS	GRCh37
Build 36	4	118,716,025 - 118,716,266	RGD	NCBI36
Celera	4	115,788,511 - 115,788,752	RGD
Cytogenetic Map	7	p14.3	UniSTS
Cytogenetic Map	4	q26	UniSTS
HuRef	4	114,232,288 - 114,232,529	UniSTS

REN5356

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	118,496,777 - 118,497,031	UniSTS	GRCh37
Build 36	4	118,716,225 - 118,716,479	RGD	NCBI36
Celera	4	115,788,711 - 115,788,965	RGD
Cytogenetic Map	7	p14.3	UniSTS
Cytogenetic Map	4	q26	UniSTS
HuRef	4	114,232,488 - 114,232,742	UniSTS

REN5357

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	118,496,956 - 118,497,216	UniSTS	GRCh37
Build 36	4	118,716,404 - 118,716,664	RGD	NCBI36
Celera	4	115,788,890 - 115,789,150	RGD
Cytogenetic Map	7	p14.3	UniSTS
Cytogenetic Map	4	q26	UniSTS
HuRef	4	114,232,667 - 114,232,927	UniSTS

NT5C3_9690

Human Assembly	Chr	Position (strand)	Source
Celera	7	33,035,418 - 33,035,947	RGD
HuRef	7	32,932,838 - 32,933,367	UniSTS
CRA_TCAGchr7v2	7	33,098,138 - 33,098,667	UniSTS

RH16522

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	118,497,013 - 118,497,157	UniSTS	GRCh37
Build 36	4	118,716,461 - 118,716,605	RGD	NCBI36
Celera	4	115,788,947 - 115,789,091	RGD
Cytogenetic Map	7	p14.3	UniSTS
Cytogenetic Map	4	q26	UniSTS
HuRef	4	114,232,724 - 114,232,868	UniSTS
GeneMap99-GB4 RH Map	4	541.37	UniSTS
NCBI RH Map	4	1222.3	UniSTS

RH65871

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	33,076,144 - 33,076,295	UniSTS	GRCh37
Build 36	7	33,042,669 - 33,042,820	RGD	NCBI36
Celera	7	33,057,971 - 33,058,122	RGD
Cytogenetic Map	7	p14.3	UniSTS
HuRef	7	32,955,384 - 32,955,535	UniSTS
CRA_TCAGchr7v2	7	33,120,692 - 33,120,843	UniSTS
GeneMap99-GB4 RH Map	7	154.34	UniSTS

RH46946

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	33,100,099 - 33,100,257	UniSTS	GRCh37
Build 36	7	33,066,624 - 33,066,782	RGD	NCBI36
Celera	7	33,081,919 - 33,082,077	RGD
Cytogenetic Map	7	p14.3	UniSTS
HuRef	7	32,979,350 - 32,979,508	UniSTS
CRA_TCAGchr7v2	7	33,144,648 - 33,144,806	UniSTS
GeneMap99-GB4 RH Map	7	148.84	UniSTS
NCBI RH Map	7	467.5	UniSTS

GDB:1317406

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	7	33,084,020 - 33,084,085	UniSTS	GRCh37
Build 36	7	33,050,545 - 33,050,610	RGD	NCBI36
Celera	7	33,065,847 - 33,065,912	RGD
Cytogenetic Map	7	p14.3	UniSTS
HuRef	7	32,963,261 - 32,963,326	UniSTS
CRA_TCAGchr7v2	7	33,128,568 - 33,128,633	UniSTS

stSG618293

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	118,495,725 - 118,497,032	UniSTS	GRCh37
Build 36	4	118,715,173 - 118,716,480	RGD	NCBI36
Celera	4	115,787,659 - 115,788,966	RGD
Cytogenetic Map	7	p14.3	UniSTS
HuRef	4	114,231,436 - 114,232,743	UniSTS

miRNA Target Status

Confirmed Target Of

miRNA Gene	Mature miRNA	Method Name	Result Type	Data Type	Support Type	PMID
MIR122	hsa-miR-122-5p	Mirtarbase	external_info	Luciferase reporter assay	Functional MTI	23055569

Predicted Target Of

	Summary Value
Count of predictions:	1933
Count of miRNA genes:	620
Interacting mature miRNAs:	705
Transcripts:	ENST00000242210, ENST00000381626, ENST00000396152, ENST00000405342, ENST00000409467, ENST00000409787, ENST00000449201, ENST00000456458, ENST00000461851, ENST00000464840, ENST00000473083, ENST00000497542, ENST00000610140
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
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.

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2220

1898

1353

260

1690

142

4310

1746

2308

331

1372

1602

134

1157

2758

Low

218

1092

372

364

261

323

450

1404

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_015800	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001002009	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001002010	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001166118	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001356996	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001374335	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001374336	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001374337	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001374338	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001374339	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_016489	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA482595	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AACC02000103	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC074338	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC083863	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF151067	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF312735	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK290118	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314109	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL136716	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW339593	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013292	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC015856	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC066914	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC071652	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF790086	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB127255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB127877	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB137440	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471073	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR533518	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA975244	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB243020	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB346026	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY012697	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	N98231	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000381626 ⟹ ENSP00000371039

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	33,014,114 - 33,041,165 (-)	Ensembl

RefSeq Acc Id:

ENST00000405342 ⟹ ENSP00000385261

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	33,014,114 - 33,062,797 (-)	Ensembl

RefSeq Acc Id:

ENST00000409467 ⟹ ENSP00000387166

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	33,014,451 - 33,040,909 (-)	Ensembl

RefSeq Acc Id:

ENST00000409787 ⟹ ENSP00000387205

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	33,017,204 - 33,035,983 (-)	Ensembl

RefSeq Acc Id:

ENST00000449201 ⟹ ENSP00000401161

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	33,024,081 - 33,040,909 (-)	Ensembl

RefSeq Acc Id:

ENST00000456458 ⟹ ENSP00000389676

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	33,014,130 - 33,062,796 (-)	Ensembl

RefSeq Acc Id:

ENST00000461851

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	33,021,825 - 33,027,033 (-)	Ensembl

RefSeq Acc Id:

ENST00000464840

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	33,023,719 - 33,040,907 (-)	Ensembl

RefSeq Acc Id:

ENST00000473083

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	33,014,720 - 33,015,926 (-)	Ensembl

RefSeq Acc Id:

ENST00000497542

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	33,029,231 - 33,040,910 (-)	Ensembl

RefSeq Acc Id:

ENST00000610140 ⟹ ENSP00000476480

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	33,014,130 - 33,062,776 (-)	Ensembl

RefSeq Acc Id:

ENST00000643244 ⟹ ENSP00000496364

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	7	33,014,130 - 33,040,900 (-)	Ensembl

RefSeq Acc Id:

NM_001002009 ⟹ NP_001002009

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	33,014,113 - 33,062,776 (-)	NCBI
GRCh37	7	33,053,725 - 33,102,409 (-)	NCBI
Build 36	7	33,020,267 - 33,068,934 (-)	NCBI Archive
HuRef	7	32,932,970 - 32,981,660 (-)	NCBI
CHM1_1	7	33,053,595 - 33,102,290 (-)	NCBI

Sequence:

show sequence

CGTGATGCTCTGGGATCCCGCGCTTCCGAGACTCGCAGTCTACGCGAGCTGCCTGTTTTTTTCC
TGCTTGGACGCGCATGAGGGCCCCGTCCATGGACCGCGCGGCCGTGGCGAGGGTGGGCGCGGTA
GCGAGCGCCAGCGTGTGCGCCCTGGTGGCGGGGGTGGTGCTGGCTCAGTACATATTCACCTTGA
AGAGGAAGACGGGGCGGAAGACCAAGATCATCGAGATGAAGATTGGATAACCAAGAAATGACTA
ATCAAGAGTCTGCCGTACATGTGAAAATGATGCCAGAATTCCAGAAAAGTTCAGTTCGAATCAA
GAACCCTACAAGAGTAGAAGAAATTATCTGTGGTCTTATCAAAGGAGGAGCTGCCAAACTTCAG
ATAATAACGGACTTTGATATGACACTCAGTAGATTTTCATATAAAGGGAAAAGATGCCCAACAT
GTCATAATATCATTGACAACTGTAAGCTGGTTACAGATGAATGTAGAAAAAAGTTATTGCAACT
AAAGGAAAAATATTACGCTATTGAAGTTGATCCTGTTCTTACTGTAGAAGAGAAGTACCCTTAT
ATGGTGGAATGGTATACTAAATCACATGGTTTGCTTGTTCAGCAAGCTTTACCAAAAGCTAAAC
TTAAAGAAATTGTGGCAGAATCTGACGTTATGCTCAAAGAAGGATATGAGAATTTCTTTGATAA
GCTCCAACAACATAGCATCCCCGTGTTCATATTTTCGGCTGGAATCGGCGATGTACTAGAGGAA
GTTATTCGTCAAGCTGGTGTTTATCATCCCAATGTCAAAGTTGTGTCCAATTTTATGGATTTTG
ATGAAACTGGGGTGCTCAAAGGATTTAAAGGAGAACTAATTCATGTATTTAACAAACATGATGG
TGCCTTGAGGAATACAGAATATTTCAATCAACTAAAAGACAATAGTAACATAATTCTTCTGGGA
GACTCCCAAGGAGACTTAAGAATGGCAGATGGAGTGGCCAATGTTGAGCACATTCTGAAAATTG
GATATCTAAATGATAGAGTGGATGAGCTTTTAGAAAAGTACATGGACTCTTATGATATTGTTTT
AGTACAAGATGAATCATTAGAAGTAGCCAACTCTATTTTACAGAAGATTCTATAAACAAGCATT
CTCCAAGAAGACCTCTCTCCTGTGGGTGCAATTGAACTGTTCATCCGTTCATCTTGCTGAGAGA
CTTATTTATAATATATCCTTACTCTCGAAGTGTTCCCTTTGTATAACTGAAGTATTTTCAGATA
TGGTGAATGCATTGACTGGAAGCTCCTTTTCTCCACCTCTCTCAACACACTCCTCACCGTATCT
TTTAACCCATTTAAAAAAAAAAAAAAGCTAAAATTAGAAAAATAACTCCCTACTTTTCCAAAGT
GAATTTTGTAGTTTAATGTTATCATGCAGCTTTTGAGGAGTCTTTTACACTGGGAAAGTTTGTA
GAAATTTTAAAATAAGTTTTATGAAATGGTGAAATAATATGCATGATTTTAAGTATTGCCATTT
TTGTAATTTGGGTTATTATGCTGATGGTATCACCATCTCTTGAAATTGTGTTAGGTTTGGTTAT
TTTGTCTGGGGAAAAAATATTTACTGGAAAAGACTAGCAGTTAGTGTTGGAAAAACCTGGTGGT
GTTTACAATGTTGCTAATCATTACAAAACATTCTATATTGAAGCACTGATAATAAATATGAAAT
GCAAAACCTTTTTAATTCTATGGTCAAAACTAAAAAAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001002010 ⟹ NP_001002010

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	33,014,130 - 33,062,776 (-)	NCBI
GRCh37	7	33,053,725 - 33,102,409 (-)	NCBI
Build 36	7	33,020,267 - 33,068,934 (-)	NCBI Archive
HuRef	7	32,932,970 - 32,981,660 (-)	NCBI
CHM1_1	7	33,053,595 - 33,102,290 (-)	NCBI
CRA_TCAGchr7v2	7	33,098,270 - 33,146,958 (-)	NCBI

Sequence:

show sequence

GGGGCGGGGCGTCGCGGGCTCGTCCGTGATGCTCTGGGATCCCGCGCTTCCGAGACTCGCAGTC
TACGCGAGCTGCCTGTTTTTTTCCTGCTTGGACGCGCATGAGGGCCCCGTCCATGGACCGCGCG
GCCGTGGCGAGGGTGGGCGCGGTAGCGAGCGCCAGCGTGTGCGCCCTGGTGGCGGGGGTGGTGC
TGGCTCAGTACATATTCACCTTGAAGAGGAAGACGGGGCGGAAGACCAAGATCATCGAGATGAT
GCCAGAATTCCAGAAAAGTTCAGTTCGAATCAAGAACCCTACAAGAGTAGAAGAAATTATCTGT
GGTCTTATCAAAGGAGGAGCTGCCAAACTTCAGATAATAACGGACTTTGATATGACACTCAGTA
GATTTTCATATAAAGGGAAAAGATGCCCAACATGTCATAATATCATTGACAACTGTAAGCTGGT
TACAGATGAATGTAGAAAAAAGTTATTGCAACTAAAGGAAAAATATTACGCTATTGAAGTTGAT
CCTGTTCTTACTGTAGAAGAGAAGTACCCTTATATGGTGGAATGGTATACTAAATCACATGGTT
TGCTTGTTCAGCAAGCTTTACCAAAAGCTAAACTTAAAGAAATTGTGGCAGAATCTGACGTTAT
GCTCAAAGAAGGATATGAGAATTTCTTTGATAAGCTCCAACAACATAGCATCCCCGTGTTCATA
TTTTCGGCTGGAATCGGCGATGTACTAGAGGAAGTTATTCGTCAAGCTGGTGTTTATCATCCCA
ATGTCAAAGTTGTGTCCAATTTTATGGATTTTGATGAAACTGGGGTGCTCAAAGGATTTAAAGG
AGAACTAATTCATGTATTTAACAAACATGATGGTGCCTTGAGGAATACAGAATATTTCAATCAA
CTAAAAGACAATAGTAACATAATTCTTCTGGGAGACTCCCAAGGAGACTTAAGAATGGCAGATG
GAGTGGCCAATGTTGAGCACATTCTGAAAATTGGATATCTAAATGATAGAGTGGATGAGCTTTT
AGAAAAGTACATGGACTCTTATGATATTGTTTTAGTACAAGATGAATCATTAGAAGTAGCCAAC
TCTATTTTACAGAAGATTCTATAAACAAGCATTCTCCAAGAAGACCTCTCTCCTGTGGGTGCAA
TTGAACTGTTCATCCGTTCATCTTGCTGAGAGACTTATTTATAATATATCCTTACTCTCGAAGT
GTTCCCTTTGTATAACTGAAGTATTTTCAGATATGGTGAATGCATTGACTGGAAGCTCCTTTTC
TCCACCTCTCTCAACACACTCCTCACCGTATCTTTTAACCCATTTAAAAAAAAAAAAAAGCTAA
AATTAGAAAAATAACTCCCTACTTTTCCAAAGTGAATTTTGTAGTTTAATGTTATCATGCAGCT
TTTGAGGAGTCTTTTACACTGGGAAAGTTTGTAGAAATTTTAAAATAAGTTTTATGAAATGGTG
AAATAATATGCATGATTTTAAGTATTGCCATTTTTGTAATTTGGGTTATTATGCTGATGGTATC
ACCATCTCTTGAAATTGTGTTAGGTTTGGTTATTTTGTCTGGGGAAAAAATATTTACTGGAAAA
GACTAGCAGTTAGTGTTGGAAAAACCTGGTGGTGTTTACAATGTTGCTAATCATTACAAAACAT
TCTATATTGAAGCACTGATAATAAATATGAAATGCAAAACCTTTTTAATTCTATGGTCAAAACT
AAAAAAAAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001166118 ⟹ NP_001159590

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	33,014,113 - 33,040,906 (-)	NCBI
GRCh37	7	33,053,725 - 33,102,409 (-)	NCBI
HuRef	7	32,932,970 - 32,981,660 (-)	NCBI
CHM1_1	7	33,053,595 - 33,080,668 (-)	NCBI
CRA_TCAGchr7v2	7	33,098,270 - 33,146,958 (-)	NCBI

Sequence:

show sequence

TTTTCTTTCCAGAGCCAGTTGCCAGTTCTAATAGTACAGATTTACCTTCTCTTTAATCGTCACA
TAACTTCAATTGATAATGTTATGTAGATTGACTTGTGACTAGCTCAGAGCTAGCGAGGCTGTAA
CCAAGAGCATATATAAAGTACTGTGCAGCAGTGCGTCACAAGGTTTTTGCATAGGGCTTAGTCA
AGGCTTTTGGAACCGCCCTCAGTTGCACCTTGTGCTATATTAGTACTTCTCAGACAGGAAGAAT
TTTCTTTTGCTGGTGTAGCTCGTCCGGTTACCTTCAGGAAGATTGGATAACCAAGAAATGACTA
ATCAAGAGTCTGCCGTACATGTGAAAATGTGTAGCAGAAACCAGCCTTCTTCGAAGTGGTCTTG
GTGTGATTCTCCTATCCGTTATCAAAAACTTGAAGCTGTGATTTGCCTGAGATGCCAGAATTCC
AGAAAAGTTCAGTTCGAATCAAGAACCCTACAAGAGTAGAAGAAATTATCTGTGGTCTTATCAA
AGGAGGAGCTGCCAAACTTCAGATAATAACGGACTTTGATATGACACTCAGTAGATTTTCATAT
AAAGGGAAAAGATGCCCAACATGTCATAATATCATTGACAACTGTAAGCTGGTTACAGATGAAT
GTAGAAAAAAGTTATTGCAACTAAAGGAAAAATATTACGCTATTGAAGTTGATCCTGTTCTTAC
TGTAGAAGAGAAGTACCCTTATATGGTGGAATGGTATACTAAATCACATGGTTTGCTTGTTCAG
CAAGCTTTACCAAAAGCTAAACTTAAAGAAATTGTGGCAGAATCTGACGTTATGCTCAAAGAAG
GATATGAGAATTTCTTTGATAAGCTCCAACAACATAGCATCCCCGTGTTCATATTTTCGGCTGG
AATCGGCGATGTACTAGAGGAAGTTATTCGTCAAGCTGGTGTTTATCATCCCAATGTCAAAGTT
GTGTCCAATTTTATGGATTTTGATGAAACTGGGGTGCTCAAAGGATTTAAAGGAGAACTAATTC
ATGTATTTAACAAACATGATGGTGCCTTGAGGAATACAGAATATTTCAATCAACTAAAAGACAA
TAGTAACATAATTCTTCTGGGAGACTCCCAAGGAGACTTAAGAATGGCAGATGGAGTGGCCAAT
GTTGAGCACATTCTGAAAATTGGATATCTAAATGATAGAGTGGATGAGCTTTTAGAAAAGTACA
TGGACTCTTATGATATTGTTTTAGTACAAGATGAATCATTAGAAGTAGCCAACTCTATTTTACA
GAAGATTCTATAAACAAGCATTCTCCAAGAAGACCTCTCTCCTGTGGGTGCAATTGAACTGTTC
ATCCGTTCATCTTGCTGAGAGACTTATTTATAATATATCCTTACTCTCGAAGTGTTCCCTTTGT
ATAACTGAAGTATTTTCAGATATGGTGAATGCATTGACTGGAAGCTCCTTTTCTCCACCTCTCT
CAACACACTCCTCACCGTATCTTTTAACCCATTTAAAAAAAAAAAAAAGCTAAAATTAGAAAAA
TAACTCCCTACTTTTCCAAAGTGAATTTTGTAGTTTAATGTTATCATGCAGCTTTTGAGGAGTC
TTTTACACTGGGAAAGTTTGTAGAAATTTTAAAATAAGTTTTATGAAATGGTGAAATAATATGC
ATGATTTTAAGTATTGCCATTTTTGTAATTTGGGTTATTATGCTGATGGTATCACCATCTCTTG
AAATTGTGTTAGGTTTGGTTATTTTGTCTGGGGAAAAAATATTTACTGGAAAAGACTAGCAGTT
AGTGTTGGAAAAACCTGGTGGTGTTTACAATGTTGCTAATCATTACAAAACATTCTATATTGAA
GCACTGATAATAAATATGAAATGCAAAACCTTTTTAATTCTATGGTCAAAACTAAAAAAAAAAA
AAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001356996 ⟹ NP_001343925

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	33,014,130 - 33,040,906 (-)	NCBI

Sequence:

show sequence

TTTTCTTTCCAGAGCCAGTTGCCAGTTCTAATAGTACAGATTTACCTTCTCTTTAATCGTCACA
TAACTTCAATTGATAATGTTATGTAGATTGACTTGTGACTAGCTCAGAGCTAGCGAGGCTGTAA
CCAAGAGCATATATAAAGTACTGTGCAGCAGTGCGTCACAAGGTTTTTGCATAGGGCTTAGTCA
AGGCTTTTGGAACCGCCCTCAGTTGCACCTTGTGCTATATTAGTACTTCTCAGACAGGAAGAAT
TTTCTTTTGCTGGTGTAGCTCGTCCGGTTACCTTCAGGAAGATTGGATAACCAAGAAATGACTA
ATCAAGAGTCTGCCGTACATGTGAAAATGCAGAAACCAGCCTTCTTCGAAGTGGTCTTGGTGTG
ATTCTCCTATCCGTTATCAAAAACTTGAAGCTGTGATTTGCCTGAGATGCCAGAATTCCAGAAA
AGTTCAGTTCGAATCAAGAACCCTACAAGAGTAGAAGAAATTATCTGTGGTCTTATCAAAGGAG
GAGCTGCCAAACTTCAGATAATAACGGACTTTGATATGACACTCAGTAGATTTTCATATAAAGG
GAAAAGATGCCCAACATGTCATAATATCATTGACAACTGTAAGCTGGTTACAGATGAATGTAGA
AAAAAGTTATTGCAACTAAAGGAAAAATATTACGCTATTGAAGTTGATCCTGTTCTTACTGTAG
AAGAGAAGTACCCTTATATGGTGGAATGGTATACTAAATCACATGGTTTGCTTGTTCAGCAAGC
TTTACCAAAAGCTAAACTTAAAGAAATTGTGGCAGAATCTGACGTTATGCTCAAAGAAGGATAT
GAGAATTTCTTTGATAAGCTCCAACAACATAGCATCCCCGTGTTCATATTTTCGGCTGGAATCG
GCGATGTACTAGAGGAAGTTATTCGTCAAGCTGGTGTTTATCATCCCAATGTCAAAGTTGTGTC
CAATTTTATGGATTTTGATGAAACTGGGGTGCTCAAAGGATTTAAAGGAGAACTAATTCATGTA
TTTAACAAACATGATGGTGCCTTGAGGAATACAGAATATTTCAATCAACTAAAAGACAATAGTA
ACATAATTCTTCTGGGAGACTCCCAAGGAGACTTAAGAATGGCAGATGGAGTGGCCAATGTTGA
GCACATTCTGAAAATTGGATATCTAAATGATAGAGTGGATGAGCTTTTAGAAAAGTACATGGAC
TCTTATGATATTGTTTTAGTACAAGATGAATCATTAGAAGTAGCCAACTCTATTTTACAGAAGA
TTCTATAAACAAGCATTCTCCAAGAAGACCTCTCTCCTGTGGGTGCAATTGAACTGTTCATCCG
TTCATCTTGCTGAGAGACTTATTTATAATATATCCTTACTCTCGAAGTGTTCCCTTTGTATAAC
TGAAGTATTTTCAGATATGGTGAATGCATTGACTGGAAGCTCCTTTTCTCCACCTCTCTCAACA
CACTCCTCACCGTATCTTTTAACCCATTTAAAAAAAAAAAAAAGCTAAAATTAGAAAAATAACT
CCCTACTTTTCCAAAGTGAATTTTGTAGTTTAATGTTATCATGCAGCTTTTGAGGAGTCTTTTA
CACTGGGAAAGTTTGTAGAAATTTTAAAATAAGTTTTATGAAATGGTGAAATAATATGCATGAT
TTTAAGTATTGCCATTTTTGTAATTTGGGTTATTATGCTGATGGTATCACCATCTCTTGAAATT
GTGTTAGGTTTGGTTATTTTGTCTGGGGAAAAAATATTTACTGGAAAAGACTAGCAGTTAGTGT
TGGAAAAACCTGGTGGTGTTTACAATGTTGCTAATCATTACAAAACATTCTATATTGAAGCACT
GATAATAAATATGAAATGCAAAACCTTTTTAATTCTATGGTCAAAACTAAAAAAAAAAAAAAAA
AAAAAAA

hide sequence

RefSeq Acc Id:

NM_001374335 ⟹ NP_001361264

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	33,014,113 - 33,062,776 (-)	NCBI

RefSeq Acc Id:

NM_001374336 ⟹ NP_001361265

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	33,014,113 - 33,062,776 (-)	NCBI

RefSeq Acc Id:

NM_001374337 ⟹ NP_001361266

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	33,014,113 - 33,040,906 (-)	NCBI

RefSeq Acc Id:

NM_001374338 ⟹ NP_001361267

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	33,014,113 - 33,062,776 (-)	NCBI

RefSeq Acc Id:

NM_001374339 ⟹ NP_001361268

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	33,014,113 - 33,062,776 (-)	NCBI

RefSeq Acc Id:

NM_016489 ⟹ NP_057573

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	33,014,130 - 33,040,906 (-)	NCBI
GRCh37	7	33,053,725 - 33,102,409 (-)	NCBI
Build 36	7	33,020,267 - 33,047,047 (-)	NCBI Archive
HuRef	7	32,932,970 - 32,981,660 (-)	NCBI
CHM1_1	7	33,053,595 - 33,080,668 (-)	NCBI
CRA_TCAGchr7v2	7	33,098,270 - 33,146,958 (-)	NCBI

Sequence:

show sequence

TTTTCTTTCCAGAGCCAGTTGCCAGTTCTAATAGTACAGATTTACCTTCTCTTTAATCGTCACA
TAACTTCAATTGATAATGTTATGTAGATTGACTTGTGACTAGCTCAGAGCTAGCGAGGCTGTAA
CCAAGAGCATATATAAAGTACTGTGCAGCAGTGCGTCACAAGGTTTTTGCATAGGGCTTAGTCA
AGGCTTTTGGAACCGCCCTCAGTTGCACCTTGTGCTATATTAGTACTTCTCAGACAGGAAGAAT
TTTCTTTTGCTGGTGTAGCTCGTCCGGTTACCTTCAGGAAGATTGGATAACCAAGAAATGACTA
ATCAAGAGTCTGCCGTACATGTGAAAATGATGCCAGAATTCCAGAAAAGTTCAGTTCGAATCAA
GAACCCTACAAGAGTAGAAGAAATTATCTGTGGTCTTATCAAAGGAGGAGCTGCCAAACTTCAG
ATAATAACGGACTTTGATATGACACTCAGTAGATTTTCATATAAAGGGAAAAGATGCCCAACAT
GTCATAATATCATTGACAACTGTAAGCTGGTTACAGATGAATGTAGAAAAAAGTTATTGCAACT
AAAGGAAAAATATTACGCTATTGAAGTTGATCCTGTTCTTACTGTAGAAGAGAAGTACCCTTAT
ATGGTGGAATGGTATACTAAATCACATGGTTTGCTTGTTCAGCAAGCTTTACCAAAAGCTAAAC
TTAAAGAAATTGTGGCAGAATCTGACGTTATGCTCAAAGAAGGATATGAGAATTTCTTTGATAA
GCTCCAACAACATAGCATCCCCGTGTTCATATTTTCGGCTGGAATCGGCGATGTACTAGAGGAA
GTTATTCGTCAAGCTGGTGTTTATCATCCCAATGTCAAAGTTGTGTCCAATTTTATGGATTTTG
ATGAAACTGGGGTGCTCAAAGGATTTAAAGGAGAACTAATTCATGTATTTAACAAACATGATGG
TGCCTTGAGGAATACAGAATATTTCAATCAACTAAAAGACAATAGTAACATAATTCTTCTGGGA
GACTCCCAAGGAGACTTAAGAATGGCAGATGGAGTGGCCAATGTTGAGCACATTCTGAAAATTG
GATATCTAAATGATAGAGTGGATGAGCTTTTAGAAAAGTACATGGACTCTTATGATATTGTTTT
AGTACAAGATGAATCATTAGAAGTAGCCAACTCTATTTTACAGAAGATTCTATAAACAAGCATT
CTCCAAGAAGACCTCTCTCCTGTGGGTGCAATTGAACTGTTCATCCGTTCATCTTGCTGAGAGA
CTTATTTATAATATATCCTTACTCTCGAAGTGTTCCCTTTGTATAACTGAAGTATTTTCAGATA
TGGTGAATGCATTGACTGGAAGCTCCTTTTCTCCACCTCTCTCAACACACTCCTCACCGTATCT
TTTAACCCATTTAAAAAAAAAAAAAAGCTAAAATTAGAAAAATAACTCCCTACTTTTCCAAAGT
GAATTTTGTAGTTTAATGTTATCATGCAGCTTTTGAGGAGTCTTTTACACTGGGAAAGTTTGTA
GAAATTTTAAAATAAGTTTTATGAAATGGTGAAATAATATGCATGATTTTAAGTATTGCCATTT
TTGTAATTTGGGTTATTATGCTGATGGTATCACCATCTCTTGAAATTGTGTTAGGTTTGGTTAT
TTTGTCTGGGGAAAAAATATTTACTGGAAAAGACTAGCAGTTAGTGTTGGAAAAACCTGGTGGT
GTTTACAATGTTGCTAATCATTACAAAACATTCTATATTGAAGCACTGATAATAAATATGAAAT
GCAAAACCTTTTTAATTCTATGGTCAAAACTAAAAAAAAAAAAAAAAAAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001002009	(Get FASTA)	NCBI Sequence Viewer
	NP_001002010	(Get FASTA)	NCBI Sequence Viewer
	NP_001159590	(Get FASTA)	NCBI Sequence Viewer
	NP_001343925	(Get FASTA)	NCBI Sequence Viewer
	NP_001361264	(Get FASTA)	NCBI Sequence Viewer
	NP_001361265	(Get FASTA)	NCBI Sequence Viewer
	NP_001361266	(Get FASTA)	NCBI Sequence Viewer
	NP_001361267	(Get FASTA)	NCBI Sequence Viewer
	NP_001361268	(Get FASTA)	NCBI Sequence Viewer
	NP_057573	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF36153	(Get FASTA)	NCBI Sequence Viewer
	AAG33630	(Get FASTA)	NCBI Sequence Viewer
	AAH13292	(Get FASTA)	NCBI Sequence Viewer
	AAH15856	(Get FASTA)	NCBI Sequence Viewer
	AAH66914	(Get FASTA)	NCBI Sequence Viewer
	AAH71652	(Get FASTA)	NCBI Sequence Viewer
	BAF82807	(Get FASTA)	NCBI Sequence Viewer
	BAG36802	(Get FASTA)	NCBI Sequence Viewer
	CAB66650	(Get FASTA)	NCBI Sequence Viewer
	CAG38549	(Get FASTA)	NCBI Sequence Viewer
	EAL24463	(Get FASTA)	NCBI Sequence Viewer
	EAW94007	(Get FASTA)	NCBI Sequence Viewer
	EAW94008	(Get FASTA)	NCBI Sequence Viewer
	EAW94009	(Get FASTA)	NCBI Sequence Viewer
	EAW94010	(Get FASTA)	NCBI Sequence Viewer
	EAW94011	(Get FASTA)	NCBI Sequence Viewer
	Q9H0P0	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_001002010 ⟸ NM_001002010

- Peptide Label:

isoform 1

- Sequence:

show sequence

MDRAAVARVGAVASASVCALVAGVVLAQYIFTLKRKTGRKTKIIEMMPEFQKSSVRIKNPTRVE
EIICGLIKGGAAKLQIITDFDMTLSRFSYKGKRCPTCHNIIDNCKLVTDECRKKLLQLKEKYYA
IEVDPVLTVEEKYPYMVEWYTKSHGLLVQQALPKAKLKEIVAESDVMLKEGYENFFDKLQQHSI
PVFIFSAGIGDVLEEVIRQAGVYHPNVKVVSNFMDFDETGVLKGFKGELIHVFNKHDGALRNTE
YFNQLKDNSNIILLGDSQGDLRMADGVANVEHILKIGYLNDRVDELLEKYMDSYDIVLVQDESL
EVANSILQKIL

hide sequence

RefSeq Acc Id:	NP_057573 ⟸ NM_016489
- Peptide Label:	isoform 2
- UniProtKB:	Q9H0P0 (UniProtKB/Swiss-Prot), A0A024RA81 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTNQESAVHVKMMPEFQKSSVRIKNPTRVEEIICGLIKGGAAKLQIITDFDMTLSRFSYKGKRC PTCHNIIDNCKLVTDECRKKLLQLKEKYYAIEVDPVLTVEEKYPYMVEWYTKSHGLLVQQALPK AKLKEIVAESDVMLKEGYENFFDKLQQHSIPVFIFSAGIGDVLEEVIRQAGVYHPNVKVVSNFM DFDETGVLKGFKGELIHVFNKHDGALRNTEYFNQLKDNSNIILLGDSQGDLRMADGVANVEHIL KIGYLNDRVDELLEKYMDSYDIVLVQDESLEVANSILQKIL hide sequence

RefSeq Acc Id:	NP_001159590 ⟸ NM_001166118
- Peptide Label:	isoform 3
- UniProtKB:	Q9H0P0 (UniProtKB/Swiss-Prot), A0A090N7U2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPEFQKSSVRIKNPTRVEEIICGLIKGGAAKLQIITDFDMTLSRFSYKGKRCPTCHNIIDNCKL VTDECRKKLLQLKEKYYAIEVDPVLTVEEKYPYMVEWYTKSHGLLVQQALPKAKLKEIVAESDV MLKEGYENFFDKLQQHSIPVFIFSAGIGDVLEEVIRQAGVYHPNVKVVSNFMDFDETGVLKGFK GELIHVFNKHDGALRNTEYFNQLKDNSNIILLGDSQGDLRMADGVANVEHILKIGYLNDRVDEL LEKYMDSYDIVLVQDESLEVANSILQKIL hide sequence

RefSeq Acc Id:	NP_001002009 ⟸ NM_001002009
- Peptide Label:	isoform 2
- UniProtKB:	Q9H0P0 (UniProtKB/Swiss-Prot), A0A024RA81 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTNQESAVHVKMMPEFQKSSVRIKNPTRVEEIICGLIKGGAAKLQIITDFDMTLSRFSYKGKRC PTCHNIIDNCKLVTDECRKKLLQLKEKYYAIEVDPVLTVEEKYPYMVEWYTKSHGLLVQQALPK AKLKEIVAESDVMLKEGYENFFDKLQQHSIPVFIFSAGIGDVLEEVIRQAGVYHPNVKVVSNFM DFDETGVLKGFKGELIHVFNKHDGALRNTEYFNQLKDNSNIILLGDSQGDLRMADGVANVEHIL KIGYLNDRVDELLEKYMDSYDIVLVQDESLEVANSILQKIL hide sequence

RefSeq Acc Id:

NP_001343925 ⟸ NM_001356996

- Peptide Label:

isoform 3

- Sequence:

show sequence

MPEFQKSSVRIKNPTRVEEIICGLIKGGAAKLQIITDFDMTLSRFSYKGKRCPTCHNIIDNCKL
VTDECRKKLLQLKEKYYAIEVDPVLTVEEKYPYMVEWYTKSHGLLVQQALPKAKLKEIVAESDV
MLKEGYENFFDKLQQHSIPVFIFSAGIGDVLEEVIRQAGVYHPNVKVVSNFMDFDETGVLKGFK
GELIHVFNKHDGALRNTEYFNQLKDNSNIILLGDSQGDLRMADGVANVEHILKIGYLNDRVDEL
LEKYMDSYDIVLVQDESLEVANSILQKIL

hide sequence

RefSeq Acc Id:	NP_001361264 ⟸ NM_001374335
- Peptide Label:	isoform 4

RefSeq Acc Id:	NP_001361267 ⟸ NM_001374338
- Peptide Label:	isoform 5

RefSeq Acc Id:	NP_001361268 ⟸ NM_001374339
- Peptide Label:	isoform 6

RefSeq Acc Id:	NP_001361265 ⟸ NM_001374336
- Peptide Label:	isoform 3

RefSeq Acc Id:	NP_001361266 ⟸ NM_001374337
- Peptide Label:	isoform 3

RefSeq Acc Id:

ENSP00000476480 ⟸ ENST00000610140

RefSeq Acc Id:

ENSP00000389676 ⟸ ENST00000456458

RefSeq Acc Id:

ENSP00000385261 ⟸ ENST00000405342

RefSeq Acc Id:

ENSP00000496364 ⟸ ENST00000643244

RefSeq Acc Id:

ENSP00000387205 ⟸ ENST00000409787

RefSeq Acc Id:

ENSP00000387166 ⟸ ENST00000409467

RefSeq Acc Id:

ENSP00000371039 ⟸ ENST00000381626

RefSeq Acc Id:

ENSP00000401161 ⟸ ENST00000449201

Promoters

RGD ID:

6805537

Promoter ID:

HG_KWN:56912

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

ENST00000405342, ENST00000409787, UC003TDL.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	33,041,966 - 33,042,466 (-)	MPROMDB

RGD ID:

6805969

Promoter ID:

HG_KWN:56913

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid

Transcripts:

ENST00000409467, NM_001166118, OTTHUMT00000328883, OTTHUMT00000328884, OTTHUMT00000328885, OTTHUMT00000328889

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	33,046,839 - 33,047,339 (-)	MPROMDB

RGD ID:

7210343

Promoter ID:

EPDNEW_H10916

Type:

initiation region

Name:

NT5C3A_1

Description:

5'-nucleotidase, cytosolic IIIA

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H10917

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	33,062,776 - 33,062,836	EPDNEW

RGD ID:

7210341

Promoter ID:

EPDNEW_H10917

Type:

initiation region

Name:

NT5C3A_2

Description:

5'-nucleotidase, cytosolic IIIA

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H10916

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	7	33,063,127 - 33,063,187	EPDNEW

RGD ID:

6805963

Promoter ID:

HG_KWN:56915

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000381626, NM_001002010

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	7	33,068,761 - 33,069,317 (-)	MPROMDB

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_016489.13(NT5C3A):c.293A>T (p.Asp98Val)	single nucleotide variant	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000004736]	Chr7:33021317 [GRCh38] Chr7:33060929 [GRCh37] Chr7:7p14.3	pathogenic
NM_016489.13(NT5C3A):c.529C>T (p.Gln177Ter)	single nucleotide variant	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000004737]	Chr7:33017501 [GRCh38] Chr7:33057113 [GRCh37] Chr7:7p14.3	pathogenic
NM_016489.13(NT5C3A):c.592-1G>T	single nucleotide variant	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000004738]	Chr7:33015871 [GRCh38] Chr7:33055483 [GRCh37] Chr7:7p14.3	pathogenic
NM_016489.13(NT5C3A):c.742_743dup (p.Val249fs)	duplication	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000004739]	Chr7:33015718..33015719 [GRCh38] Chr7:33055330..33055331 [GRCh37] Chr7:7p14.3	pathogenic
NM_016489.13(NT5C3A):c.543T>G (p.Tyr181Ter)	single nucleotide variant	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000004740]	Chr7:33017487 [GRCh38] Chr7:33057099 [GRCh37] Chr7:7p14.3	pathogenic
NM_016489.13(NT5C3A):c.592-1G>C	single nucleotide variant	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000004742]	Chr7:33015871 [GRCh38] Chr7:33055483 [GRCh37] Chr7:7p14.3	pathogenic
NM_016489.13(NT5C3A):c.569A>G (p.Asn190Ser)	single nucleotide variant	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000004743]	Chr7:33017461 [GRCh38] Chr7:33057073 [GRCh37] Chr7:7p14.3	pathogenic
NM_016489.13(NT5C3A):c.577del (p.Asp193fs)	deletion	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000004744]	Chr7:33017453 [GRCh38] Chr7:33057065 [GRCh37] Chr7:7p14.3	pathogenic
NM_016489.13(NT5C3A):c.721G>C (p.Gly241Arg)	single nucleotide variant	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000004745]	Chr7:33015741 [GRCh38] Chr7:33055353 [GRCh37] Chr7:7p14.3	pathogenic
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	copy number gain	See cases [RCV000051159]	Chr7:54185..41875885 [GRCh38] Chr7:54185..41915483 [GRCh37] Chr7:149268..41882008 [NCBI36] Chr7:7p22.3-14.1	pathogenic
GRCh38/hg38 7p14.3(chr7:30420933-34560665)x3	copy number gain	See cases [RCV000051178]	Chr7:30420933..34560665 [GRCh38] Chr7:30460549..34600277 [GRCh37] Chr7:30427074..34566802 [NCBI36] Chr7:7p14.3	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 7p22.3-14.2(chr7:54185-37089712)x3	copy number gain	See cases [RCV000053530]	Chr7:54185..37089712 [GRCh38] Chr7:54185..37129317 [GRCh37] Chr7:149268..37095842 [NCBI36] Chr7:7p22.3-14.2	pathogenic
NM_016489.12(NT5C3A):c.384dupA (p.Ala129Serfs)	duplication	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000004741]	Chr7:33019678..33019679 [GRCh38] Chr7:33059290..33059291 [GRCh37] Chr7:7p14.3	pathogenic
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 7p14.3-14.1(chr7:32678391-41044983)x1	copy number loss	See cases [RCV000140283]	Chr7:32678391..41044983 [GRCh38] Chr7:32718003..41084581 [GRCh37] Chr7:32684528..41051106 [NCBI36] Chr7:7p14.3-14.1	pathogenic
GRCh38/hg38 7p14.3(chr7:30938370-33400996)x1	copy number loss	See cases [RCV000141441]	Chr7:30938370..33400996 [GRCh38] Chr7:30977985..33440608 [GRCh37] Chr7:30944510..33407133 [NCBI36] Chr7:7p14.3	likely 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
NM_016489.13(NT5C3A):c.223A>C (p.Lys75Gln)	single nucleotide variant	not provided [RCV000757573]	Chr7:33022082 [GRCh38] Chr7:33061694 [GRCh37] Chr7:7p14.3	uncertain significance
TMEM106B-BRAF fusion	deletion	Pleomorphic xanthoastrocytoma [RCV000454357]	Chr7:12258147..140494267 [GRCh37] Chr7:7p21.3-q34	pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	copy number gain	See cases [RCV000446478]	Chr7:11562624..36395416 [GRCh37] Chr7:7p21.3-14.2	pathogenic
GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	copy number loss	See cases [RCV000446955]	Chr7:32911003..44576005 [GRCh37] Chr7:7p14.3-13	pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	copy number gain	See cases [RCV000512091]	Chr7:11048840..52863626 [GRCh37] Chr7:7p21.3-12.1	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
NM_016489.13(NT5C3A):c.276T>C (p.Tyr92=)	single nucleotide variant	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV000506680]	Chr7:33021334 [GRCh38] Chr7:33060946 [GRCh37] Chr7:7p14.3	benign
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
GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	copy number gain	not provided [RCV000682909]	Chr7:30463886..43470805 [GRCh37] Chr7:7p14.3-13	pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	inversion	Speech-language disorder 1 [RCV000234948]	Chr7:21001537..114528369 [GRCh37] Chr7:7p15.3-q31.1	pathogenic
NM_001002010.5(NT5C3A):c.686A>T (p.Asp229Val)	single nucleotide variant	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV001001047]	Chr7:33017446 [GRCh38] Chr7:33057058 [GRCh37] Chr7:7p14.3	uncertain significance
NM_001002010.5(NT5C3A):c.440+9A>G	single nucleotide variant	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV001001517]	Chr7:33021263 [GRCh38] Chr7:33060875 [GRCh37] Chr7:7p14.3	benign
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
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 7p14.3(chr7:33053281-33185898)x3	copy number gain	not provided [RCV000746607]	Chr7:33053281..33185898 [GRCh37] Chr7:7p14.3	benign
NM_001002010.5(NT5C3A):c.861G>A (p.Glu287=)	single nucleotide variant	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV001286944]\|not provided [RCV000961779]	Chr7:33015703 [GRCh38] Chr7:33055315 [GRCh37] Chr7:7p14.3	benign
NM_001002010.5(NT5C3A):c.139-9060del	deletion	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV001287233]	Chr7:33035975 [GRCh38] Chr7:33075587 [GRCh37] Chr7:7p14.3	benign
NM_001002010.5(NT5C3A):c.408T>C (p.Thr136=)	single nucleotide variant	not provided [RCV000967044]	Chr7:33021304 [GRCh38] Chr7:33060916 [GRCh37] Chr7:7p14.3	benign
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
GRCh37/hg19 7p14.3(chr7:33074784-33084764)x1	copy number loss	not provided [RCV000848053]	Chr7:33074784..33084764 [GRCh37] Chr7:7p14.3	pathogenic
GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1	copy number loss	not provided [RCV001005924]	Chr7:23877135..33139446 [GRCh37] Chr7:7p15.3-14.3	pathogenic
NM_001002010.5(NT5C3A):c.895-2A>G	single nucleotide variant	not provided [RCV000998786]	Chr7:33014833 [GRCh38] Chr7:33054445 [GRCh37] Chr7:7p14.3	likely pathogenic
NM_001002010.5(NT5C3A):c.406A>G (p.Thr136Ala)	single nucleotide variant	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV001001158]	Chr7:33021306 [GRCh38] Chr7:33060918 [GRCh37] Chr7:7p14.3	uncertain significance
NM_001002010.5(NT5C3A):c.248A>T (p.Asp83Val)	single nucleotide variant	not provided [RCV001200532]	Chr7:33024098 [GRCh38] Chr7:33063710 [GRCh37] Chr7:7p14.3	uncertain significance
NM_001002010.5(NT5C3A):c.530AAG[1] (p.Glu178del)	deletion	not provided [RCV001200531]	Chr7:33017597..33017599 [GRCh38] Chr7:33057209..33057211 [GRCh37] Chr7:7p14.3	uncertain significance
NM_001002010.5(NT5C3A):c.139-9046T>C	single nucleotide variant	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to [RCV001289724]	Chr7:33035961 [GRCh38] Chr7:33075573 [GRCh37] Chr7:7p14.3	benign

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:17820	AgrOrtholog
COSMIC	NT5C3A	COSMIC
Ensembl Genes	ENSG00000122643	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000371039	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000385261	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000387166	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000387205	UniProtKB/TrEMBL
	ENSP00000389676	UniProtKB/TrEMBL
	ENSP00000401161	UniProtKB/TrEMBL
	ENSP00000476480	ENTREZGENE, UniProtKB/TrEMBL
	ENSP00000496364	ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000381626	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000405342	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000409467	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000409787	UniProtKB/TrEMBL
	ENST00000449201	UniProtKB/TrEMBL
	ENST00000456458	UniProtKB/TrEMBL
	ENST00000610140	ENTREZGENE, UniProtKB/TrEMBL
	ENST00000643244	ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH	3.40.50.1000	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000122643	GTEx
HGNC ID	HGNC:17820	ENTREZGENE
Human Proteome Map	NT5C3A	Human Proteome Map
InterPro	HAD-like_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HAD_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Pyrimidine_nucleotidase_eu	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:51251	UniProtKB/Swiss-Prot
NCBI Gene	51251	ENTREZGENE
OMIM	266120	OMIM
	606224	OMIM
Pfam	UMPH-1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA31802	PharmGKB
Superfamily-SCOP	SSF56784	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs	HAD-SF-IE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	5NT3A_HUMAN	UniProtKB/Swiss-Prot
	A0A024RA81	ENTREZGENE, UniProtKB/TrEMBL
	A0A090N7U2	ENTREZGENE, UniProtKB/TrEMBL
	B9A035_HUMAN	UniProtKB/TrEMBL
	C9K084_HUMAN	UniProtKB/TrEMBL
	F8WDR0_HUMAN	UniProtKB/TrEMBL
	Q9H0P0	ENTREZGENE
	X6RM59_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	A8K253	UniProtKB/Swiss-Prot
	B2RAA5	UniProtKB/Swiss-Prot
	B8ZZC4	UniProtKB/Swiss-Prot
	Q6IPZ1	UniProtKB/Swiss-Prot
	Q6NXS6	UniProtKB/Swiss-Prot
	Q7L3G6	UniProtKB/Swiss-Prot
	Q9P0P5	UniProtKB/Swiss-Prot
	Q9UC42	UniProtKB/Swiss-Prot
	Q9UC43	UniProtKB/Swiss-Prot
	Q9UC44	UniProtKB/Swiss-Prot
	Q9UC45	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2013-03-12	NT5C3A	5'-nucleotidase, cytosolic IIIA	NT5C3	5'-nucleotidase, cytosolic III	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 - MGI

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)