OS9 (OS9 endoplasmic reticulum lectin)

Gene: OS9 (OS9 endoplasmic reticulum lectin) Homo sapiens

Analyze

Symbol:

OS9

Name:

OS9 endoplasmic reticulum lectin

RGD ID:

1605693

HGNC Page

HGNC:16994

Description:

Predicted to enable carbohydrate binding activity and protease binding activity. Involved in several processes, including negative regulation of retrograde protein transport, ER to cytosol; protein retention in ER lumen; and proteolysis involved in protein catabolic process. Located in endoplasmic reticulum lumen.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

amplified in osteosarcoma 9; endoplasmic reticulum lectin 2; ERLEC2; erlectin 2; OS-9; OS9, endoplasmic reticulum lectin; osteosarcoma amplified 9, endoplasmic reticulum associated protein; osteosarcoma amplified 9, endoplasmic reticulum lectin

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Os9 (amplified in osteosarcoma)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Os9 (OS9, endoplasmic reticulum lectin)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Os9 (OS9 endoplasmic reticulum lectin)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	OS9 (OS9 endoplasmic reticulum lectin)	NCBI	Ortholog
Canis lupus familiaris (dog):	OS9 (OS9 endoplasmic reticulum lectin)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Os9 (OS9 endoplasmic reticulum lectin)	NCBI	Ortholog
Sus scrofa (pig):	OS9 (OS9 endoplasmic reticulum lectin)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	OS9 (OS9 endoplasmic reticulum lectin)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Os9 (OS9 endoplasmic reticulum lectin)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Os9 (OS9, endoplasmic reticulum lectin)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Os9 (amplified in osteosarcoma)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	os9 (OS9 endoplasmic reticulum lectin)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	F48E8.4	Alliance	DIOPT (Hieranoid\|PANTHER)
Xenopus tropicalis (tropical clawed frog):	os9	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	os9.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	os9.L	Alliance	DIOPT (Xenbase)

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	12	57,694,132 - 57,721,557 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	57,693,841 - 57,728,342 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	58,087,915 - 58,115,340 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	56,374,153 - 56,401,607 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	57,745,335 - 57,772,930 (+)	NCBI		Celera
Cytogenetic Map	12	q13.3-q14.1	NCBI
HuRef	12	55,124,606 - 55,152,176 (+)	NCBI		HuRef
CHM1_1	12	58,055,537 - 58,083,142 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	57,662,503 - 57,689,908 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

familial melanoma (IAGP)

genetic disease (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(1->4)-beta-D-glucan (ISO)

1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane (ISO)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (ISO)

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

2,3-dimethoxynaphthalene-1,4-dione (EXP)

2,4-dinitrotoluene (ISO)

3',5'-cyclic AMP (ISO)

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

3-isobutyl-1-methyl-7H-xanthine (EXP)

acrolein (EXP)

aflatoxin B1 (ISO)

all-trans-retinoic acid (EXP)

alpha-pinene (EXP)

antimony(0) (EXP)

arsenous acid (EXP)

Benoxacor (ISO)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

bortezomib (EXP)

cadmium atom (EXP)

cadmium dichloride (EXP)

chromium atom (EXP)

cisplatin (ISO)

clofibrate (ISO)

crocidolite asbestos (EXP)

dexamethasone (EXP)

diarsenic trioxide (EXP)

dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate (EXP)

elemental selenium (EXP)

endosulfan (ISO)

ethanol (ISO)

glycidyl methacrylate (EXP)

gold atom (EXP)

gold(0) (EXP)

indometacin (EXP)

inulin (ISO)

L-ascorbic acid (EXP)

lead(0) (EXP)

mercury atom (EXP)

mercury(0) (EXP)

methoxychlor (ISO)

ozone (EXP)

paracetamol (ISO)

perfluorooctane-1-sulfonic acid (ISO)

pirinixic acid (ISO)

potassium dichromate (EXP)

selenium atom (EXP)

tamoxifen (ISO)

tauroursodeoxycholic acid (ISO)

tert-butyl hydroperoxide (EXP)

thapsigargin (EXP,ISO)

thioacetamide (ISO)

tungsten (ISO)

tunicamycin (EXP)

urethane (EXP)

valproic acid (EXP)

vinclozolin (ISO)

vitamin E (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

endoplasmic reticulum unfolded protein response (IEA)

ERAD pathway (IBA,IMP)

negative regulation of retrograde protein transport, ER to cytosol (IMP)

protein retention in ER lumen (IDA)

protein targeting (IEA,ISO)

protein ubiquitination (IMP)

response to endoplasmic reticulum stress (IDA)

retrograde protein transport, ER to cytosol (IBA,IEA)

ubiquitin-dependent protein catabolic process (IMP)

Cellular Component

endoplasmic reticulum (IDA,IEA)

endoplasmic reticulum lumen (IBA,IDA,IEA)

endoplasmic reticulum membrane (TAS)

Hrd1p ubiquitin ligase complex (NAS)

Molecular Function

carbohydrate binding (IEA)

protease binding (IEA,ISO)

protein binding (IDA,IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

Endoplasmic Reticulum-associated degradation pathway (IEA)

hypoxia inducible factor pathway (TAS)

References

References - curated

#	Reference Title	Reference Citation
1.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
3.	Regulation of oxygen homeostasis by hypoxia-inducible factor 1.	Semenza GL Physiology (Bethesda). 2009 Apr;24:97-106.

Additional References at PubMed

PMID:8090779	PMID:8634085	PMID:9192850	PMID:9498564	PMID:9562620	PMID:10403379	PMID:12077121	PMID:12093806	PMID:12477932	PMID:12747754	PMID:15146197	PMID:15231748
PMID:15721254	PMID:16169070	PMID:16344560	PMID:17932042	PMID:18264092	PMID:18417469	PMID:18502753	PMID:18711132	PMID:18952287	PMID:19084021	PMID:19346256	PMID:19706418
PMID:19914915	PMID:20546900	PMID:20549515	PMID:20936779	PMID:21118962	PMID:21172656	PMID:21404621	PMID:21454652	PMID:21559462	PMID:21857022	PMID:21873635	PMID:21917589
PMID:21988832	PMID:22119785	PMID:22190034	PMID:22268729	PMID:23097496	PMID:23356641	PMID:23414517	PMID:23464991	PMID:23867461	PMID:23956138	PMID:24390342	PMID:24795221
PMID:24899641	PMID:24910992	PMID:25314054	PMID:25544563	PMID:25660456	PMID:25999789	PMID:26186194	PMID:26424800	PMID:26496610	PMID:26551274	PMID:26638075	PMID:26721884
PMID:26945068	PMID:26972000	PMID:27375898	PMID:27387505	PMID:27432908	PMID:28366632	PMID:28380382	PMID:28419469	PMID:28514442	PMID:28611215	PMID:28675297	PMID:28827405
PMID:29496332	PMID:29599191	PMID:29706535	PMID:30631154	PMID:30833792	PMID:31056421	PMID:31527615	PMID:32353859	PMID:32409323	PMID:32423001	PMID:32437666	PMID:32513696
PMID:32614325	PMID:32665550	PMID:33060197	PMID:33545068	PMID:33671632	PMID:33957083	PMID:33961781	PMID:34079125	PMID:34186245	PMID:34591612	PMID:34591642	PMID:34597346
PMID:34672954	PMID:34709727	PMID:35007762	PMID:35271311	PMID:35338135	PMID:35384245	PMID:35605301	PMID:35944360	PMID:36180527	PMID:36215168	PMID:36352191	PMID:36610398
PMID:38070861

Genomics

Comparative Map Data

OS9
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	57,694,132 - 57,721,557 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	57,693,841 - 57,728,342 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	58,087,915 - 58,115,340 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	56,374,153 - 56,401,607 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	12	57,745,335 - 57,772,930 (+)	NCBI		Celera
Cytogenetic Map	12	q13.3-q14.1	NCBI
HuRef	12	55,124,606 - 55,152,176 (+)	NCBI		HuRef
CHM1_1	12	58,055,537 - 58,083,142 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	57,662,503 - 57,689,908 (+)	NCBI		T2T-CHM13v2.0

Os9
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	126,928,880 - 126,957,029 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	126,931,519 - 126,957,000 (-)	Ensembl		GRCm39 Ensembl
GRCm38	10	127,094,259 - 127,121,160 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	127,095,650 - 127,121,131 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	126,531,315 - 126,558,216 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	126,498,599 - 126,524,074 (-)	NCBI		MGSCv36	mm8
Celera	10	129,486,911 - 129,514,007 (-)	NCBI		Celera
Cytogenetic Map	10	D3	NCBI
cM Map	10	74.5	NCBI

Os9
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	64,802,517 - 64,829,185 (-)	NCBI		GRCr8
mRatBN7.2	7	62,915,498 - 62,957,591 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	62,915,515 - 62,943,745 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	64,806,506 - 64,833,054 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	67,008,904 - 67,035,457 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	66,809,970 - 66,836,472 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	70,378,625 - 70,407,135 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	70,380,311 - 70,407,177 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	70,556,327 - 70,584,837 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	67,046,802 - 67,073,355 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	67,067,533 - 67,094,085 (-)	NCBI
Celera	7	60,060,542 - 60,087,034 (-)	NCBI		Celera
Cytogenetic Map	7	q22	NCBI

Os9
(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_004955458	5,407,739 - 5,432,085 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955458	5,407,709 - 5,432,646 (+)	NCBI	ChiLan1.0	ChiLan1.0

OS9
(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	10	36,619,441 - 36,646,957 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	36,616,212 - 36,643,728 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	31,205,239 - 31,232,769 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	31,465,836 - 31,493,076 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	31,463,716 - 31,493,076 (-)	Ensembl	panpan1.1		panPan2

OS9
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	1,757,070 - 1,787,822 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	1,757,103 - 1,787,203 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	1,820,251 - 1,851,006 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	1,766,439 - 1,797,192 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	1,766,407 - 1,797,188 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	1,744,195 - 1,774,942 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	1,986,092 - 2,017,042 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	2,111,143 - 2,141,905 (+)	NCBI		UU_Cfam_GSD_1.0

Os9
(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_024404945	57,010,035 - 57,037,803 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936646	1,832,015 - 1,859,576 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936646	1,832,434 - 1,860,200 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

OS9
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	22,957,875 - 23,004,458 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	22,957,903 - 23,004,464 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

OS9
(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	11	53,606,916 - 53,635,152 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	53,607,008 - 53,635,793 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	192,327,156 - 192,355,401 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Os9
(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_004624802	10,222,259 - 10,252,039 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624802	10,221,633 - 10,252,008 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in OS9
49 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	copy number loss	See cases [RCV000052813]	Chr12:57013355..63042498 [GRCh38] Chr12:57407139..63436278 [GRCh37] Chr12:55693406..61722545 [NCBI36] Chr12:12q13.3-14.2	pathogenic
GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	copy number loss	See cases [RCV000052814]	Chr12:57041158..60273934 [GRCh38] Chr12:57434942..60667715 [GRCh37] Chr12:55721209..58953982 [NCBI36] Chr12:12q13.3-14.1	pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
NM_006812.4(OS9):c.1264GATGAGGATGAA[1] (p.418DE[4])	microsatellite	not provided [RCV000598991]	Chr12:57718275..57718286 [GRCh38] Chr12:58112058..58112069 [GRCh37] Chr12:12q14.1	uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
NM_006812.4(OS9):c.677G>A (p.Arg226Gln)	single nucleotide variant	Inborn genetic diseases [RCV003302632]	Chr12:57715857 [GRCh38] Chr12:58109640 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.667C>T (p.Arg223Cys)	single nucleotide variant	Inborn genetic diseases [RCV003255569]	Chr12:57715847 [GRCh38] Chr12:58109630 [GRCh37] Chr12:12q14.1	uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
NM_006812.4(OS9):c.1361C>T (p.Ser454Leu)	single nucleotide variant	not provided [RCV000947467]	Chr12:57718372 [GRCh38] Chr12:58112155 [GRCh37] Chr12:12q14.1	benign
NM_006812.4(OS9):c.141G>A (p.Pro47=)	single nucleotide variant	not provided [RCV000962268]	Chr12:57694302 [GRCh38] Chr12:58088085 [GRCh37] Chr12:12q13.3	benign
NM_006812.4(OS9):c.481-7T>C	single nucleotide variant	not provided [RCV000957092]	Chr12:57696268 [GRCh38] Chr12:58090051 [GRCh37] Chr12:12q13.3	benign
GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1	copy number loss	not provided [RCV001006506]	Chr12:57582163..59031979 [GRCh37] Chr12:12q13.3-14.1	likely pathogenic
GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	copy number gain	not provided [RCV001006505]	Chr12:55552371..62126304 [GRCh37] Chr12:12q13.2-14.1	pathogenic
NM_006812.4(OS9):c.1395A>G (p.Glu465=)	single nucleotide variant	not provided [RCV001617798]	Chr12:57718406 [GRCh38] Chr12:58112189 [GRCh37] Chr12:12q14.1	benign
NC_000012.11:g.(?_57881874)_(58190366_?)dup	duplication	not provided [RCV001916382]	Chr12:57881874..58190366 [GRCh37] Chr12:12q13.3-14.1	uncertain significance
NC_000012.11:g.(?_57534470)_(58190366_?)dup	duplication	Familial melanoma [RCV003119257]	Chr12:57534470..58190366 [GRCh37] Chr12:12q13.3-14.1	uncertain significance
GRCh37/hg19 12q13.3-14.1(chr12:57631073-58236597)x1	copy number loss	not provided [RCV002474565]	Chr12:57631073..58236597 [GRCh37] Chr12:12q13.3-14.1	likely pathogenic
NM_006812.4(OS9):c.896C>T (p.Ala299Val)	single nucleotide variant	Inborn genetic diseases [RCV002774158]	Chr12:57716415 [GRCh38] Chr12:58110198 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.605T>C (p.Ile202Thr)	single nucleotide variant	Inborn genetic diseases [RCV002771935]	Chr12:57715785 [GRCh38] Chr12:58109568 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.1149A>G (p.Ile383Met)	single nucleotide variant	Inborn genetic diseases [RCV002774588]	Chr12:57718160 [GRCh38] Chr12:58111943 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.835C>G (p.Leu279Val)	single nucleotide variant	Inborn genetic diseases [RCV002997236]	Chr12:57716136 [GRCh38] Chr12:58109919 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.598G>A (p.Ala200Thr)	single nucleotide variant	Inborn genetic diseases [RCV002734596]	Chr12:57715778 [GRCh38] Chr12:58109561 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.1910G>A (p.Arg637His)	single nucleotide variant	Inborn genetic diseases [RCV002688780]	Chr12:57720815 [GRCh38] Chr12:58114598 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.540G>C (p.Lys180Asn)	single nucleotide variant	Inborn genetic diseases [RCV002901751]	Chr12:57696334 [GRCh38] Chr12:58090117 [GRCh37] Chr12:12q13.3	uncertain significance
NM_006812.4(OS9):c.995A>G (p.Glu332Gly)	single nucleotide variant	Inborn genetic diseases [RCV002969450]	Chr12:57716694 [GRCh38] Chr12:58110477 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.1862T>C (p.Ile621Thr)	single nucleotide variant	Inborn genetic diseases [RCV002973918]	Chr12:57720502 [GRCh38] Chr12:58114285 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.602G>T (p.Gly201Val)	single nucleotide variant	Inborn genetic diseases [RCV002997336]	Chr12:57715782 [GRCh38] Chr12:58109565 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.218G>A (p.Cys73Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002739992]	Chr12:57694805 [GRCh38] Chr12:58088588 [GRCh37] Chr12:12q13.3	uncertain significance
NM_006812.4(OS9):c.1790G>A (p.Arg597His)	single nucleotide variant	Inborn genetic diseases [RCV002694391]	Chr12:57720430 [GRCh38] Chr12:58114213 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.1532A>G (p.Glu511Gly)	single nucleotide variant	Inborn genetic diseases [RCV002977656]	Chr12:57719114 [GRCh38] Chr12:58112897 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.560C>T (p.Pro187Leu)	single nucleotide variant	Inborn genetic diseases [RCV002798399]	Chr12:57696354 [GRCh38] Chr12:58090137 [GRCh37] Chr12:12q13.3	uncertain significance
NM_006812.4(OS9):c.902C>T (p.Pro301Leu)	single nucleotide variant	Inborn genetic diseases [RCV002799911]	Chr12:57716421 [GRCh38] Chr12:58110204 [GRCh37] Chr12:12q14.1	likely benign
NM_006812.4(OS9):c.1834G>A (p.Asp612Asn)	single nucleotide variant	Inborn genetic diseases [RCV002849948]	Chr12:57720474 [GRCh38] Chr12:58114257 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.1646G>A (p.Arg549His)	single nucleotide variant	Inborn genetic diseases [RCV002956320]	Chr12:57720144 [GRCh38] Chr12:58113927 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.1614G>C (p.Glu538Asp)	single nucleotide variant	Inborn genetic diseases [RCV002874385]	Chr12:57720112 [GRCh38] Chr12:58113895 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.1621G>A (p.Val541Ile)	single nucleotide variant	Inborn genetic diseases [RCV002892009]	Chr12:57720119 [GRCh38] Chr12:58113902 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.431A>G (p.Tyr144Cys)	single nucleotide variant	Inborn genetic diseases [RCV002769516]	Chr12:57695989 [GRCh38] Chr12:58089772 [GRCh37] Chr12:12q13.3	uncertain significance
NM_006812.4(OS9):c.998A>C (p.Gln333Pro)	single nucleotide variant	Inborn genetic diseases [RCV002961612]	Chr12:57716697 [GRCh38] Chr12:58110480 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.1615C>A (p.His539Asn)	single nucleotide variant	Inborn genetic diseases [RCV002965816]	Chr12:57720113 [GRCh38] Chr12:58113896 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.1269G>C (p.Glu423Asp)	single nucleotide variant	Inborn genetic diseases [RCV002677728]	Chr12:57718280 [GRCh38] Chr12:58112063 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.1225C>T (p.Arg409Trp)	single nucleotide variant	Inborn genetic diseases [RCV002656247]	Chr12:57718236 [GRCh38] Chr12:58112019 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.1648C>G (p.Leu550Val)	single nucleotide variant	Inborn genetic diseases [RCV002723150]	Chr12:57720146 [GRCh38] Chr12:58113929 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.1946G>A (p.Arg649Gln)	single nucleotide variant	Inborn genetic diseases [RCV003207051]	Chr12:57720851 [GRCh38] Chr12:58114634 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.1288C>G (p.Arg430Gly)	single nucleotide variant	Inborn genetic diseases [RCV003208344]	Chr12:57718299 [GRCh38] Chr12:58112082 [GRCh37] Chr12:12q14.1	uncertain significance
GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	copy number loss	not provided [RCV003222783]	Chr12:57064059..59314016 [GRCh37] Chr12:12q13.3-14.1	likely pathogenic
NM_006812.4(OS9):c.1457G>A (p.Arg486Gln)	single nucleotide variant	Inborn genetic diseases [RCV003201510]	Chr12:57719039 [GRCh38] Chr12:58112822 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.1583C>T (p.Pro528Leu)	single nucleotide variant	Inborn genetic diseases [RCV003179479]	Chr12:57719165 [GRCh38] Chr12:58112948 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.1652G>T (p.Gly551Val)	single nucleotide variant	Inborn genetic diseases [RCV003309364]	Chr12:57720150 [GRCh38] Chr12:58113933 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.753G>C (p.Gln251His)	single nucleotide variant	Inborn genetic diseases [RCV003376313]	Chr12:57715933 [GRCh38] Chr12:58109716 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.673C>A (p.Pro225Thr)	single nucleotide variant	Inborn genetic diseases [RCV003374407]	Chr12:57715853 [GRCh38] Chr12:58109636 [GRCh37] Chr12:12q14.1	uncertain significance
NM_006812.4(OS9):c.43C>G (p.Leu15Val)	single nucleotide variant	not provided [RCV003390273]	Chr12:57694204 [GRCh38] Chr12:58087987 [GRCh37] Chr12:12q13.3	uncertain significance
NM_006812.4(OS9):c.621C>T (p.Ile207=)	single nucleotide variant	not provided [RCV003391936]	Chr12:57715801 [GRCh38] Chr12:58109584 [GRCh37] Chr12:12q14.1	likely benign
NM_006812.4(OS9):c.744T>G (p.Pro248=)	single nucleotide variant	not provided [RCV003391937]	Chr12:57715924 [GRCh38] Chr12:58109707 [GRCh37] Chr12:12q14.1	likely benign
NM_006812.4(OS9):c.308G>C (p.Ser103Thr)	single nucleotide variant	not provided [RCV003391935]	Chr12:57694895 [GRCh38] Chr12:58088678 [GRCh37] Chr12:12q13.3	uncertain significance
NM_006812.4(OS9):c.993+5G>A	single nucleotide variant	Hereditary cancer [RCV003492893]	Chr12:57716517 [GRCh38] Chr12:58110300 [GRCh37] Chr12:12q14.1	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	6582
Count of miRNA genes:	1053
Interacting mature miRNAs:	1346
Transcripts:	ENST00000257966, ENST00000315970, ENST00000389142, ENST00000389146, ENST00000413095, ENST00000435406, ENST00000439210, ENST00000546916, ENST00000547079, ENST00000549307, ENST00000549897, ENST00000550202, ENST00000550372, ENST00000550438, ENST00000550699, ENST00000550793, ENST00000550848, ENST00000551035, ENST00000551285, ENST00000552285, ENST00000552423, ENST00000552787, ENST00000553208
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.

Markers in Region

D9S2056

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	58,115,088 - 58,115,293	UniSTS	GRCh37
Build 36	12	56,401,355 - 56,401,560	RGD	NCBI36
Celera	12	57,772,678 - 57,772,883	RGD
Cytogenetic Map	12	q13	UniSTS
HuRef	12	55,151,924 - 55,152,129	UniSTS
Stanford-G3 RH Map	12	2369.0	UniSTS
NCBI RH Map	12	462.0	UniSTS
GeneMap99-G3 RH Map	12	2315.0	UniSTS

MARC_11519-11520:1001089863:1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	58,112,160 - 58,112,912	UniSTS	GRCh37
Celera	12	57,769,750 - 57,770,502	UniSTS

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

2439

2975

1725

624

1950

465

4357

2180

3691

417

1460

1610

175

1204

2788

Low

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_029228	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001017956	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001017957	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001017958	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001261420	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001261421	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001261422	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001261423	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001410978	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001410979	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001410980	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006812	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054370840	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB002805	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AB002806	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC025165	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK129781	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK130733	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK291374	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293435	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK294870	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296770	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298532	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303291	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303858	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK304533	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL137691	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AU132426	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000532	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC006506	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007254	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC023513	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ954079	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471054	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN335053	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR456791	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF036505	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U09408	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U41635	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U81031	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000257966 ⟹ ENSP00000257966

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,693,841 - 57,721,555 (+)	Ensembl

RefSeq Acc Id:

ENST00000315970 ⟹ ENSP00000318165

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,694,132 - 57,721,557 (+)	Ensembl

RefSeq Acc Id:

ENST00000389142 ⟹ ENSP00000373794

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,693,841 - 57,721,557 (+)	Ensembl

RefSeq Acc Id:

ENST00000389146 ⟹ ENSP00000373798

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,693,841 - 57,721,549 (+)	Ensembl

RefSeq Acc Id:

ENST00000413095 ⟹ ENSP00000413112

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,694,145 - 57,721,331 (+)	Ensembl

RefSeq Acc Id:

ENST00000435406 ⟹ ENSP00000389632

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,694,145 - 57,721,555 (+)	Ensembl

RefSeq Acc Id:

ENST00000439210 ⟹ ENSP00000407360

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,694,143 - 57,721,219 (+)	Ensembl

RefSeq Acc Id:

ENST00000546916

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,693,841 - 57,721,546 (+)	Ensembl

RefSeq Acc Id:

ENST00000547079 ⟹ ENSP00000447031

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,694,137 - 57,719,061 (+)	Ensembl

RefSeq Acc Id:

ENST00000549307

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,695,496 - 57,721,557 (+)	Ensembl

RefSeq Acc Id:

ENST00000549897

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,694,023 - 57,721,423 (+)	Ensembl

RefSeq Acc Id:

ENST00000550202

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,693,841 - 57,721,546 (+)	Ensembl

RefSeq Acc Id:

ENST00000550372 ⟹ ENSP00000447719

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,694,146 - 57,715,847 (+)	Ensembl

RefSeq Acc Id:

ENST00000550438

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,715,706 - 57,718,168 (+)	Ensembl

RefSeq Acc Id:

ENST00000550699

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,693,841 - 57,721,546 (+)	Ensembl

RefSeq Acc Id:

ENST00000550793

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,694,154 - 57,695,996 (+)	Ensembl

RefSeq Acc Id:

ENST00000550848 ⟹ ENSP00000448478

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,694,132 - 57,696,278 (+)	Ensembl

RefSeq Acc Id:

ENST00000551035 ⟹ ENSP00000447866

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,694,145 - 57,721,395 (+)	Ensembl

RefSeq Acc Id:

ENST00000551285 ⟹ ENSP00000449789

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,694,143 - 57,696,078 (+)	Ensembl

RefSeq Acc Id:

ENST00000552285 ⟹ ENSP00000450010

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,693,841 - 57,721,551 (+)	Ensembl

RefSeq Acc Id:

ENST00000552423 ⟹ ENSP00000447163

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,694,121 - 57,721,551 (+)	Ensembl

RefSeq Acc Id:

ENST00000552787 ⟹ ENSP00000447451

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,694,139 - 57,716,181 (+)	Ensembl

RefSeq Acc Id:

ENST00000553208

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,694,094 - 57,721,551 (+)	Ensembl

RefSeq Acc Id:

ENST00000700656 ⟹ ENSP00000515125

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,693,841 - 57,721,546 (+)	Ensembl

RefSeq Acc Id:

ENST00000700657 ⟹ ENSP00000515126

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,693,841 - 57,721,546 (+)	Ensembl

RefSeq Acc Id:

ENST00000700658 ⟹ ENSP00000515127

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,693,841 - 57,721,546 (+)	Ensembl

RefSeq Acc Id:

ENST00000700659 ⟹ ENSP00000515128

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,693,841 - 57,721,546 (+)	Ensembl

RefSeq Acc Id:

ENST00000700660 ⟹ ENSP00000515129

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,693,841 - 57,721,546 (+)	Ensembl

RefSeq Acc Id:

ENST00000700661 ⟹ ENSP00000515130

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,693,841 - 57,721,549 (+)	Ensembl

RefSeq Acc Id:

ENST00000700662 ⟹ ENSP00000515131

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,693,841 - 57,721,549 (+)	Ensembl

RefSeq Acc Id:

ENST00000700663 ⟹ ENSP00000515132

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,693,841 - 57,721,549 (+)	Ensembl

RefSeq Acc Id:

ENST00000700664 ⟹ ENSP00000515133

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,693,841 - 57,721,551 (+)	Ensembl

RefSeq Acc Id:

ENST00000700665 ⟹ ENSP00000515134

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,693,841 - 57,721,551 (+)	Ensembl

RefSeq Acc Id:

ENST00000700666

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,694,094 - 57,702,427 (+)	Ensembl

RefSeq Acc Id:

ENST00000700667 ⟹ ENSP00000515135

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,694,150 - 57,721,551 (+)	Ensembl

RefSeq Acc Id:

ENST00000700668 ⟹ ENSP00000515136

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,694,340 - 57,721,551 (+)	Ensembl

RefSeq Acc Id:

ENST00000700670 ⟹ ENSP00000515138

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	57,719,093 - 57,728,342 (+)	Ensembl

RefSeq Acc Id:

NM_001017956 ⟹ NP_001017956

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,694,132 - 57,721,557 (+)	NCBI
GRCh37	12	58,087,738 - 58,115,340 (+)	ENTREZGENE
Build 36	12	56,374,153 - 56,401,607 (+)	NCBI Archive
HuRef	12	55,124,606 - 55,152,176 (+)	ENTREZGENE
CHM1_1	12	58,055,537 - 58,083,142 (+)	NCBI
T2T-CHM13v2.0	12	57,662,503 - 57,689,908 (+)	NCBI

Sequence:

show sequence

AGATTCTCTGCATAAGAAGGGGAACGAAAGATGGCGGCGGAAACGCTGCTGTCCAGTTTGTTAG
GACTGCTGCTTCTGGGACTCCTGTTACCCGCAAGTCTGACCGGCGGTGTCGGGAGCCTGAACCT
GGAGGAGCTGAGTGAGATGCGTTATGGGATCGAGATCCTGCCGTTGCCTGTCATGGGAGGGCAG
AGCCAATCTTCGGACGTGGTGATTGTCTCCTCTAAGTACAAACAGCGCTATGAGTGTCGCCTGC
CAGCTGGAGCTATTCACTTCCAGCGTGAAAGGGAGGAGGAAACACCTGCTTACCAAGGGCCTGG
GATCCCTGAGTTGTTGAGCCCAATGAGAGATGCTCCCTGCTTGCTGAAGACAAAGGACTGGTGG
ACATATGAATTCTGTTATGGACGCCACATCCAGCAATACCACATGGAAGATTCAGAGATCAAAG
GTGAAGTCCTCTATCTCGGCTACTACCAATCAGCCTTCGACTGGGATGATGAAACAGCCAAGGC
CTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGAC
CTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGTTCCTCTGTGACGAGGGTGCAGGTATCTCTG
GGGACTACATCGATCGCGTGGACGAGCCCTTGTCCTGCTCTTATGTGCTGACCATTCGCACTCC
TCGGCTCTGCCCCCACCCTCTCCTCCGGCCCCCACCCAGTGCTGCACCGCAGGCCATCCTCTGT
CACCCTTCCCTACAGCCTGAGGAGTACATGGCCTACGTTCAGAGGCAAGCCGACTCAAAGCAGT
ATGGAGATAAAATCATAGAGGAGCTGCAAGATCTAGGCCCCCAAGTGTGGAGTGAGACCAAGTC
TGGGGTGGCACCCCAAAAGATGGCAGGTGCGAGCCCGACCAAGGATGACAGTAAGGACTCAGAT
TTCTGGAAGATGCTTAATGAGCCAGAGGACCAGGCCCCAGGAGGGGAGGAGGTGCCGGCTGAGG
AGCAGGACCCAAGCCCTGAGGCAGCAGATTCAGCTTCTGGTGCTCCCAATGATTTTCAGAACAA
CGTGCAGGTCAAAGTCATTCGAAGCCCTGCGGATTTGATTCGATTCATAGAGGAGCTGAAAGGT
GGAACAAAAAAGGGGAAGCCAAATATAGGCCAAGAGCAGCCTGTGGATGATGCTGCAGAAGTCC
CTCAGAGGGAACCAGAGAAGGAAAGGGGTGATCCAGAACGGCAGAGAGAGATGGAAGAAGAGGA
GGATGAGGATGAGGATGAGGATGAAGATGAGGATGAACGGCAGTTACTGGGAGAATTTGAGAAG
GAACTGGAAGGGATCCTGCTTCCGTCAGACCGAGACCGGCTCCGTTCGGAGGTGAAGGCTGGCA
TGGAGCGGGAACTGGAAAACATCATCCAGGAGACAGAGAAAGAGCTGGACCCAGATGGGCTGAA
GAAGGAGTCAGAGCGGGATCGGGCAATGCTGGCTCTCACATCCACTCTCAACAAACTCATCAAA
AGACTGGAGGAAAAACAGAGTCCAGAGCTGGTGAAGAAGCACAAGAAAAAGAGGGTTGTCCCCA
AAAAGCCTCCCCCATCACCCCAACCTACAGGGAAAATTGAGATCAAAATTGTCCGCCCATGGGC
TGAAGGGACTGAAGAGGGTGCACGTTGGCTGACTGATGAGGACACGAGAAACCTCAAGGAGATC
TTCTTCAATATCTTGGTGCCGGGAGCTGAAGAGGCCCAGAAGGAACGCCAGCGGCAGAAAGAGC
TGGAGAGCAATTACCGCCGGGTGTGGGGCTCTCCAGGTGGGGAGGGCACAGGGGACCTGGACGA
ATTTGACTTCTGAGACCAACACTACACTTGACCCTTCACGGAATCCAGACTCTTCCTGGACTGG
CTTGCCTCCTCCCCACCTCCCCACCCTGGAACCCCTGAGGGCCAAACAGCAGAGTGGAGCTGAG
CTGTGGACCTCTCGGGCAACTCTGTGGGTGTGGGGGCCCTGGGTGAATGCTGCTGCCCCTGCTG
GCAGCCACCTTGAGACCTCACCGGGCCTGTGATATTTGCTCTCCTGAACTCTCACTCAATCCTC
TTCCTCTCCTCTGTGGCTTTTCCTGTTATTGTCCCCTAATGATAGGATATTCCCTGCTGCCTAC
CTGGAGATTCAGTAGGATCTTTTGAGTGGAGGTGGGTAGAGAGAGCAAGGAGGGCAGGACACTT
AGCAGGCACTGAGCAAGCAGGCCCCCACCTGCCCTTAGTGATGTTTGGAGTCGTTTTACCCTCT
TCTATTGAATTGCCTTGGGATTTCCTTCTCCCTTTCCCTGCCCACCCTGTCCCCTACAATTTGT
GCTTCTGAGTTGAGGAGCCTTCACCTCTGTTGCTGAGGAAATGGTAGAATGCTGCCTATCACCT
CCAGCACAATCCCAGTGAAAAAGGTGTGAAGCACCCACCATGTTCTTGAACAATCAGGTTTCTA
AATAAACAACTGGACCATCAA

hide sequence

RefSeq Acc Id:

NM_001017957 ⟹ NP_001017957

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,694,132 - 57,721,557 (+)	NCBI
GRCh37	12	58,087,738 - 58,115,340 (+)	ENTREZGENE
Build 36	12	56,374,153 - 56,401,607 (+)	NCBI Archive
HuRef	12	55,124,606 - 55,152,176 (+)	ENTREZGENE
CHM1_1	12	58,055,537 - 58,083,142 (+)	NCBI
T2T-CHM13v2.0	12	57,662,503 - 57,689,908 (+)	NCBI

Sequence:

show sequence

AGATTCTCTGCATAAGAAGGGGAACGAAAGATGGCGGCGGAAACGCTGCTGTCCAGTTTGTTAG
GACTGCTGCTTCTGGGACTCCTGTTACCCGCAAGTCTGACCGGCGGTGTCGGGAGCCTGAACCT
GGAGGAGCTGAGTGAGATGCGTTATGGGATCGAGATCCTGCCGTTGCCTGTCATGGGAGGGCAG
AGCCAATCTTCGGACGTGGTGATTGTCTCCTCTAAGTACAAACAGCGCTATGAGTGTCGCCTGC
CAGCTGGAGCTATTCACTTCCAGCGTGAAAGGGAGGAGGAAACACCTGCTTACCAAGGGCCTGG
GATCCCTGAGTTGTTGAGCCCAATGAGAGATGCTCCCTGCTTGCTGAAGACAAAGGACTGGTGG
ACATATGAATTCTGTTATGGACGCCACATCCAGCAATACCACATGGAAGATTCAGAGATCAAAG
GTGAAGTCCTCTATCTCGGCTACTACCAATCAGCCTTCGACTGGGATGATGAAACAGCCAAGGC
CTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGAC
CTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGTTCCTCTGTGACGAGGGTGCAGGTATCTCTG
GGGACTACATCGATCGCGTGGACGAGCCCTTGTCCTGCTCTTATGTGCTGACCATTCGCACTCC
TCGGCTCTGCCCCCACCCTCTCCTCCGGCCCCCACCCAGTGCTGCACCGCAGGCCATCCTCTGT
CACCCTTCCCTACAGCCTGAGGAGTACATGGCCTACGTTCAGAGGCAAGCCGACTCAAAGCAGT
ATGGAGATAAAATCATAGAGGAGCTGCAAGATCTAGGCCCCCAAGTGTGGAGTGAGACCAAGTC
TGGGGTGGCACCCCAAAAGATGGCAGGTGCGAGCCCGACCAAGGATGACAGTAAGGACTCAGAT
TTCTGGAAGATGCTTAATGAGCCAGAGGACCAGGCCCCAGGAGGGGAGGAGGTGCCGGCTGAGG
AGCAGGACCCAAGCCCTGAGGCAGCAGATTCAGCTTCTGGTGCTCCCAATGATTTTCAGAACAA
CGTGCAGGTCAAAGTCATTCGAAGCCCTGCGGATTTGATTCGATTCATAGAGGAGCTGAAAGGT
GGAACAAAAAAGGGGAAGCCAAATATAGGCCAAGAGCAGCCTGTGGATGATGCTGCAGAAGTCC
CTCAGAGGGAACCAGAGAAGGAAAGGGGTGATCCAGAACGGCAGAGAGAGATGGAAGAAGAGGA
GGATGAGGATGAGGATGAGGATGAAGATGAGGATGAACGGCAGTTACTGGGAGAATTTGAGAAG
GAACTGGAAGGGATCCTGCTTCCGTCAGACCGAGACCGGCTCCGTTCGGAGACAGAGAAAGAGC
TGGACCCAGATGGGCTGAAGAAGGAGTCAGAGCGGGATCGGGCAATGCTGGCTCTCACATCCAC
TCTCAACAAACTCATCAAAAGACTGGAGGAAAAACAGAGTCCAGAGCTGGTGAAGAAGCACAAG
AAAAAGAGGGTTGTCCCCAAAAAGCCTCCCCCATCACCCCAACCTACAGGGAAAATTGAGATCA
AAATTGTCCGCCCATGGGCTGAAGGGACTGAAGAGGGTGCACGTTGGCTGACTGATGAGGACAC
GAGAAACCTCAAGGAGATCTTCTTCAATATCTTGGTGCCGGGAGCTGAAGAGGCCCAGAAGGAA
CGCCAGCGGCAGAAAGAGCTGGAGAGCAATTACCGCCGGGTGTGGGGCTCTCCAGGTGGGGAGG
GCACAGGGGACCTGGACGAATTTGACTTCTGAGACCAACACTACACTTGACCCTTCACGGAATC
CAGACTCTTCCTGGACTGGCTTGCCTCCTCCCCACCTCCCCACCCTGGAACCCCTGAGGGCCAA
ACAGCAGAGTGGAGCTGAGCTGTGGACCTCTCGGGCAACTCTGTGGGTGTGGGGGCCCTGGGTG
AATGCTGCTGCCCCTGCTGGCAGCCACCTTGAGACCTCACCGGGCCTGTGATATTTGCTCTCCT
GAACTCTCACTCAATCCTCTTCCTCTCCTCTGTGGCTTTTCCTGTTATTGTCCCCTAATGATAG
GATATTCCCTGCTGCCTACCTGGAGATTCAGTAGGATCTTTTGAGTGGAGGTGGGTAGAGAGAG
CAAGGAGGGCAGGACACTTAGCAGGCACTGAGCAAGCAGGCCCCCACCTGCCCTTAGTGATGTT
TGGAGTCGTTTTACCCTCTTCTATTGAATTGCCTTGGGATTTCCTTCTCCCTTTCCCTGCCCAC
CCTGTCCCCTACAATTTGTGCTTCTGAGTTGAGGAGCCTTCACCTCTGTTGCTGAGGAAATGGT
AGAATGCTGCCTATCACCTCCAGCACAATCCCAGTGAAAAAGGTGTGAAGCACCCACCATGTTC
TTGAACAATCAGGTTTCTAAATAAACAACTGGACCATCAA

hide sequence

RefSeq Acc Id:

NM_001017958 ⟹ NP_001017958

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,694,132 - 57,721,557 (+)	NCBI
GRCh37	12	58,087,738 - 58,115,340 (+)	ENTREZGENE
Build 36	12	56,374,153 - 56,401,607 (+)	NCBI Archive
HuRef	12	55,124,606 - 55,152,176 (+)	ENTREZGENE
CHM1_1	12	58,055,537 - 58,083,142 (+)	NCBI
T2T-CHM13v2.0	12	57,662,503 - 57,689,908 (+)	NCBI

Sequence:

show sequence

AGATTCTCTGCATAAGAAGGGGAACGAAAGATGGCGGCGGAAACGCTGCTGTCCAGTTTGTTAG
GACTGCTGCTTCTGGGACTCCTGTTACCCGCAAGTCTGACCGGCGGTGTCGGGAGCCTGAACCT
GGAGGAGCTGAGTGAGATGCGTTATGGGATCGAGATCCTGCCGTTGCCTGTCATGGGAGGGCAG
AGCCAATCTTCGGACGTGGTGATTGTCTCCTCTAAGTACAAACAGCGCTATGAGTGTCGCCTGC
CAGCTGGAGCTATTCACTTCCAGCGTGAAAGGGAGGAGGAAACACCTGCTTACCAAGGGCCTGG
GATCCCTGAGTTGTTGAGCCCAATGAGAGATGCTCCCTGCTTGCTGAAGACAAAGGACTGGTGG
ACATATGAATTCTGTTATGGACGCCACATCCAGCAATACCACATGGAAGATTCAGAGATCAAAG
GTGAAGTCCTCTATCTCGGCTACTACCAATCAGCCTTCGACTGGGATGATGAAACAGCCAAGGC
CTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGAC
CTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGTTCCTCTGTGACGAGGGTGCAGGTATCTCTG
GGGACTACATCGATCGCGTGGACGAGCCCTTGTCCTGCTCTTATGTGCTGACCATTCGCACTCC
TCGGCTCTGCCCCCACCCTCTCCTCCGGCCCCCACCCAGTGCTGCACCGCAGGCCATCCTCTGT
CACCCTTCCCTACAGCCTGAGGAGTACATGGCCTACGTTCAGAGGCAAGCCGACTCAAAGCAGT
ATGGAGATAAAATCATAGAGGAGCTGCAAGATCTAGGCCCCCAAGTGTGGAGTGAGACCAAGTC
TGGGGTGGCACCCCAAAAGATGGCAGGTGCGAGCCCGACCAAGGATGACAGTAAGGACTCAGAT
TTCTGGAAGATGCTTAATGAGCCAGAGGACCAGGCCCCAGGAGGGGAGGAGGTGCCGGCTGAGG
AGCAGGACCCAAGCCCTGAGGCAGCAGATTCAGCTTCTGGTGCTCCCAATGATTTTCAGAACAA
CGTGCAGGTCAAAGTCATTCGAAGCCCTGCGGATTTGATTCGATTCATAGAGGAGCTGAAAGGT
GGAACAAAAAAGGGGAAGCCAAATATAGGCCAAGAGCAGCCTGTGGATGATGCTGCAGAAGTCC
CTCAGAGGGAACCAGAGAAGGAAAGGGGTGATCCAGAACGGCAGAGAGAGATGGAAGAAGAGGA
GGATGAGGATGAGGATGAGGATGAAGATGAGGATGAACGGCAGTTACTGGGAGAATTTGAGAAG
GAACTGGAAGGGATCCTGCTTCCGTCAGACCGAGACCGGCTCCGTTCGGAGACAGAGAAAGAGC
TGGACCCAGATGGGCTGAAGAAGGAGTCAGAGCGGGATCGGGCAATGCTGGCTCTCACATCCAC
TCTCAACAAACTCATCAAAAGACTGGAGGAAAAACAGAGTCCAGAGCTGGTGAAGAAGCACAAG
AAAAAGAGGGTTGTCCCCAAAAAGCCTCCCCCATCACCCCAACCTACAGAGGAGGATCCTGAGC
ACAGAGTCCGGGTCCGGGTCACCAAGCTCCGTCTCGGAGGCCCTAATCAGGATCTGACTGTCCT
CGAGATGAAACGGGAAAACCCACAGCTGAAACAAATCGAGGGGCTGGTGAAGGAGCTGCTGGAG
AGGGAGGGACTCACAGCTGCAGGGAAAATTGAGATCAAAATTGTCCGCCCATGGGCTGAAGGGA
CTGAAGAGGGTGCACGTTGGCTGACTGATGAGGACACGAGAAACCTCAAGGAGATCTTCTTCAA
TATCTTGGTGCCGGGAGCTGAAGAGGCCCAGAAGGAACGCCAGCGGCAGAAAGAGCTGGAGAGC
AATTACCGCCGGGTGTGGGGCTCTCCAGGTGGGGAGGGCACAGGGGACCTGGACGAATTTGACT
TCTGAGACCAACACTACACTTGACCCTTCACGGAATCCAGACTCTTCCTGGACTGGCTTGCCTC
CTCCCCACCTCCCCACCCTGGAACCCCTGAGGGCCAAACAGCAGAGTGGAGCTGAGCTGTGGAC
CTCTCGGGCAACTCTGTGGGTGTGGGGGCCCTGGGTGAATGCTGCTGCCCCTGCTGGCAGCCAC
CTTGAGACCTCACCGGGCCTGTGATATTTGCTCTCCTGAACTCTCACTCAATCCTCTTCCTCTC
CTCTGTGGCTTTTCCTGTTATTGTCCCCTAATGATAGGATATTCCCTGCTGCCTACCTGGAGAT
TCAGTAGGATCTTTTGAGTGGAGGTGGGTAGAGAGAGCAAGGAGGGCAGGACACTTAGCAGGCA
CTGAGCAAGCAGGCCCCCACCTGCCCTTAGTGATGTTTGGAGTCGTTTTACCCTCTTCTATTGA
ATTGCCTTGGGATTTCCTTCTCCCTTTCCCTGCCCACCCTGTCCCCTACAATTTGTGCTTCTGA
GTTGAGGAGCCTTCACCTCTGTTGCTGAGGAAATGGTAGAATGCTGCCTATCACCTCCAGCACA
ATCCCAGTGAAAAAGGTGTGAAGCACCCACCATGTTCTTGAACAATCAGGTTTCTAAATAAACA
ACTGGACCATCAA

hide sequence

RefSeq Acc Id:

NM_001261420 ⟹ NP_001248349

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,694,132 - 57,721,557 (+)	NCBI
GRCh37	12	58,087,738 - 58,115,340 (+)	NCBI
HuRef	12	55,124,606 - 55,152,176 (+)	NCBI
CHM1_1	12	58,055,537 - 58,083,142 (+)	NCBI
T2T-CHM13v2.0	12	57,662,503 - 57,689,908 (+)	NCBI

Sequence:

show sequence

AGATTCTCTGCATAAGAAGGGGAACGAAAGATGGCGGCGGAAACGCTGCTGTCCAGTTTGTTAG
GACTGCTGCTTCTGGGACTCCTGTTACCCGCAAGTCTGACCGGCGGTGTCGGGAGCCTGAACCT
GGAGGAGCTGAGTGAGATGCGTTATGGGATCGAGATCCTGCCGTTGCCTGTCATGGGAGGGCAG
AGCCAATCTTCGGACGTGGTGATTGTCTCCTCTAAGTACAAACAGCGCTATGAGTGTCGCCTGC
CAGCTGGAGCTATTCACTTCCAGCGTGAAAGGGAGGAGGAAACACCTGCTTACCAAGGGCCTGG
GATCCCTGAGTTGTTGAGCCCAATGAGAGATGCTCCCTGCTTGCTGAAGACAAAGGACTGGTGG
ACATATGAATTCTGTTATGGACGCCACATCCAGCAATACCACATGGAAGATTCAGAGATCAAAG
GTGAAGTCCTCTATCTCGGCTACTACCAATCAGCCTTCGACTGGGATGATGAAACAGCCAAGGC
CTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGAC
CTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGTTCCTCTGTGACGAGGGTGCAGGTATCTCTG
GGGACTACATCGATCGCGTGGACGAGCCCTTGTCCTGCTCTTATGTGCTGACCATTCGCACTCC
TCGGCTCTGCCCCCACCCTCTCCTCCGGCCCCCACCCAGTGCTGCACCGCAGGCCATCCTCTGT
CACCCTTCCCTACAGCCTGAGGAGTACATGGCCTACGTTCAGAGGCAAGCCGTAGACTCAAAGC
AGTATGGAGATAAAATCATAGAGGAGCTGCAAGATCTAGGCCCCCAAGTGTGGAGTGAGACCAA
GTCTGGGGTGGCACCCCAAAAGATGGCAGGTGCGAGCCCGACCAAGGATGACAGTAAGGACTCA
GATTTCTGGAAGATGCTTAATGAGCCAGAGGACCAGGCCCCAGGAGGGGAGGAGGTGCCGGCTG
AGGAGCAGGACCCAAGCCCTGAGGCAGCAGATTCAGCTTCTGGTGCTCCCAATGATTTTCAGAA
CAACGTGCAGGTCAAAGTCATTCGAAGCCCTGCGGATTTGATTCGATTCATAGAGGAGCTGAAA
GGTGGAACAAAAAAGGGGAAGCCAAATATAGGCCAAGAGCAGCCTGTGGATGATGCTGCAGAAG
TCCCTCAGAGGGAACCAGAGAAGGAAAGGGGTGATCCAGAACGGCAGAGAGAGATGGAAGAAGA
GGAGGATGAGGATGAGGATGAGGATGAAGATGAGGATGAACGGCAGTTACTGGGAGAATTTGAG
AAGGAACTGGAAGGGATCCTGCTTCCGTCAGACCGAGACCGGCTCCGTTCGGAGGTGAAGGCTG
GCATGGAGCGGGAACTGGAAAACATCATCCAGGAGACAGAGAAAGAGCTGGACCCAGATGGGCT
GAAGAAGGAGTCAGAGCGGGATCGGGCAATGCTGGCTCTCACATCCACTCTCAACAAACTCATC
AAAAGACTGGAGGAAAAACAGAGTCCAGAGCTGGTGAAGAAGCACAAGAAAAAGAGGGTTGTCC
CCAAAAAGCCTCCCCCATCACCCCAACCTACAGGGAAAATTGAGATCAAAATTGTCCGCCCATG
GGCTGAAGGGACTGAAGAGGGTGCACGTTGGCTGACTGATGAGGACACGAGAAACCTCAAGGAG
ATCTTCTTCAATATCTTGGTGCCGGGAGCTGAAGAGGCCCAGAAGGAACGCCAGCGGCAGAAAG
AGCTGGAGAGCAATTACCGCCGGGTGTGGGGCTCTCCAGGTGGGGAGGGCACAGGGGACCTGGA
CGAATTTGACTTCTGAGACCAACACTACACTTGACCCTTCACGGAATCCAGACTCTTCCTGGAC
TGGCTTGCCTCCTCCCCACCTCCCCACCCTGGAACCCCTGAGGGCCAAACAGCAGAGTGGAGCT
GAGCTGTGGACCTCTCGGGCAACTCTGTGGGTGTGGGGGCCCTGGGTGAATGCTGCTGCCCCTG
CTGGCAGCCACCTTGAGACCTCACCGGGCCTGTGATATTTGCTCTCCTGAACTCTCACTCAATC
CTCTTCCTCTCCTCTGTGGCTTTTCCTGTTATTGTCCCCTAATGATAGGATATTCCCTGCTGCC
TACCTGGAGATTCAGTAGGATCTTTTGAGTGGAGGTGGGTAGAGAGAGCAAGGAGGGCAGGACA
CTTAGCAGGCACTGAGCAAGCAGGCCCCCACCTGCCCTTAGTGATGTTTGGAGTCGTTTTACCC
TCTTCTATTGAATTGCCTTGGGATTTCCTTCTCCCTTTCCCTGCCCACCCTGTCCCCTACAATT
TGTGCTTCTGAGTTGAGGAGCCTTCACCTCTGTTGCTGAGGAAATGGTAGAATGCTGCCTATCA
CCTCCAGCACAATCCCAGTGAAAAAGGTGTGAAGCACCCACCATGTTCTTGAACAATCAGGTTT
CTAAATAAACAACTGGACCATCAA

hide sequence

RefSeq Acc Id:

NM_001261421 ⟹ NP_001248350

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,694,132 - 57,721,557 (+)	NCBI
GRCh37	12	58,087,738 - 58,115,340 (+)	NCBI
HuRef	12	55,124,606 - 55,152,176 (+)	NCBI
CHM1_1	12	58,055,537 - 58,083,142 (+)	NCBI
T2T-CHM13v2.0	12	57,662,503 - 57,689,908 (+)	NCBI

Sequence:

show sequence

AGATTCTCTGCATAAGAAGGGGAACGAAAGATGGCGGCGGAAACGCTGCTGTCCAGTTTGTTAG
GACTGCTGCTTCTGGGACTCCTGTTACCCGCAAGTCTGACCGGCGGTGTCGGGAGCCTGAACCT
GGAGGAGCTGAGTGAGATGCGTTATGGGATCGAGATCCTGCCGTTGCCTGTCATGGGAGGGCAG
AGCCAATCTTCGGACGTGGTGATTGTCTCCTCTAAGTACAAACAGCGCTATGAGTGTCGCCTGC
CAGCTGGAGCTATTCACTTCCAGCGTGAAAGGGAGGAGGAAACACCTGCTTACCAAGGGCCTGG
GATCCCTGAGTTGTTGAGCCCAATGAGAGATGCTCCCTGCTTGCTGAAGACAAAGGACTGGTGG
ACATATGAATTCTGTTATGGACGCCACATCCAGCAATACCACATGGAAGATTCAGAGATCAAAG
GTGAAGTCCTCTATCTCGGCTACTACCAATCAGCCTTCGACTGGGATGATGAAACAGCCAAGTT
CCTCTGTGACGAGGGTGCAGGTATCTCTGGGGACTACATCGATCGCGTGGACGAGCCCTTGTCC
TGCTCTTATGTGCTGACCATTCGCACTCCTCGGCTCTGCCCCCACCCTCTCCTCCGGCCCCCAC
CCAGTGCTGCACCGCAGGCCATCCTCTGTCACCCTTCCCTACAGCCTGAGGAGTACATGGCCTA
CGTTCAGAGGCAAGCCGTAGACTCAAAGCAGTATGGAGATAAAATCATAGAGGAGCTGCAAGAT
CTAGGCCCCCAAGTGTGGAGTGAGACCAAGTCTGGGGTGGCACCCCAAAAGATGGCAGGTGCGA
GCCCGACCAAGGATGACAGTAAGGACTCAGATTTCTGGAAGATGCTTAATGAGCCAGAGGACCA
GGCCCCAGGAGGGGAGGAGGTGCCGGCTGAGGAGCAGGACCCAAGCCCTGAGGCAGCAGATTCA
GCTTCTGGTGCTCCCAATGATTTTCAGAACAACGTGCAGGTCAAAGTCATTCGAAGCCCTGCGG
ATTTGATTCGATTCATAGAGGAGCTGAAAGGTGGAACAAAAAAGGGGAAGCCAAATATAGGCCA
AGAGCAGCCTGTGGATGATGCTGCAGAAGTCCCTCAGAGGGAACCAGAGAAGGAAAGGGGTGAT
CCAGAACGGCAGAGAGAGATGGAAGAAGAGGAGGATGAGGATGAGGATGAGGATGAAGATGAGG
ATGAACGGCAGTTACTGGGAGAATTTGAGAAGGAACTGGAAGGGATCCTGCTTCCGTCAGACCG
AGACCGGCTCCGTTCGGAGGTGAAGGCTGGCATGGAGCGGGAACTGGAAAACATCATCCAGGAG
ACAGAGAAAGAGCTGGACCCAGATGGGCTGAAGAAGGAGTCAGAGCGGGATCGGGCAATGCTGG
CTCTCACATCCACTCTCAACAAACTCATCAAAAGACTGGAGGAAAAACAGAGTCCAGAGCTGGT
GAAGAAGCACAAGAAAAAGAGGGTTGTCCCCAAAAAGCCTCCCCCATCACCCCAACCTACAGGG
AAAATTGAGATCAAAATTGTCCGCCCATGGGCTGAAGGGACTGAAGAGGGTGCACGTTGGCTGA
CTGATGAGGACACGAGAAACCTCAAGGAGATCTTCTTCAATATCTTGGTGCCGGGAGCTGAAGA
GGCCCAGAAGGAACGCCAGCGGCAGAAAGAGCTGGAGAGCAATTACCGCCGGGTGTGGGGCTCT
CCAGGTGGGGAGGGCACAGGGGACCTGGACGAATTTGACTTCTGAGACCAACACTACACTTGAC
CCTTCACGGAATCCAGACTCTTCCTGGACTGGCTTGCCTCCTCCCCACCTCCCCACCCTGGAAC
CCCTGAGGGCCAAACAGCAGAGTGGAGCTGAGCTGTGGACCTCTCGGGCAACTCTGTGGGTGTG
GGGGCCCTGGGTGAATGCTGCTGCCCCTGCTGGCAGCCACCTTGAGACCTCACCGGGCCTGTGA
TATTTGCTCTCCTGAACTCTCACTCAATCCTCTTCCTCTCCTCTGTGGCTTTTCCTGTTATTGT
CCCCTAATGATAGGATATTCCCTGCTGCCTACCTGGAGATTCAGTAGGATCTTTTGAGTGGAGG
TGGGTAGAGAGAGCAAGGAGGGCAGGACACTTAGCAGGCACTGAGCAAGCAGGCCCCCACCTGC
CCTTAGTGATGTTTGGAGTCGTTTTACCCTCTTCTATTGAATTGCCTTGGGATTTCCTTCTCCC
TTTCCCTGCCCACCCTGTCCCCTACAATTTGTGCTTCTGAGTTGAGGAGCCTTCACCTCTGTTG
CTGAGGAAATGGTAGAATGCTGCCTATCACCTCCAGCACAATCCCAGTGAAAAAGGTGTGAAGC
ACCCACCATGTTCTTGAACAATCAGGTTTCTAAATAAACAACTGGACCATCAA

hide sequence

RefSeq Acc Id:

NM_001261422 ⟹ NP_001248351

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,694,132 - 57,721,557 (+)	NCBI
GRCh37	12	58,087,738 - 58,115,340 (+)	NCBI
HuRef	12	55,124,606 - 55,152,176 (+)	NCBI
CHM1_1	12	58,055,537 - 58,083,142 (+)	NCBI
T2T-CHM13v2.0	12	57,662,503 - 57,689,908 (+)	NCBI

Sequence:

show sequence

AGATTCTCTGCATAAGAAGGGGAACGAAAGATGGCGGCGGAAACGCTGCTGTCCAGTTTGTTAG
GACTGCTGCTTCTGGGACTCCTGTTACCCGCAAGTCTGACCGGCGGTGTCGGGAGCCTGAACCT
GGAGGAGCTGAGTGAGATGCGTTATGGGATCGAGATCCTGCCGTTGCCTGTCATGGGAGGGCAG
AGCCAATCTTCGGACGTGGTGATTGTCTCCTCTAAGTACAAACAGCGCTATGAGTGTCGCCTGC
CAGCTGGAGCTATTCACTTCCAGCGTGAAAGGGAGGAGGAAACACCTGCTTACCAAGGGCCTGG
GATCCCTGAGTTGTTGAGCCCAATGAGAGATGCTCCCTGCTTGCTGAAGACAAAGGACTGGTGG
ACATATGAATTCTGTTATGGACGCCACATCCAGCAATACCACATGGAAGATTCAGAGATCAAAG
GTGAATTCCTCTGTGACGAGGGTGCAGGTATCTCTGGGGACTACATCGATCGCGTGGACGAGCC
CTTGTCCTGCTCTTATGTGCTGACCATTCGCACTCCTCGGCTCTGCCCCCACCCTCTCCTCCGG
CCCCCACCCAGTGCTGCACCGCAGGCCATCCTCTGTCACCCTTCCCTACAGCCTGAGGAGTACA
TGGCCTACGTTCAGAGGCAAGCCGACTCAAAGCAGTATGGAGATAAAATCATAGAGGAGCTGCA
AGATCTAGGCCCCCAAGTGTGGAGTGAGACCAAGTCTGGGGTGGCACCCCAAAAGATGGCAGGT
GCGAGCCCGACCAAGGATGACAGTAAGGACTCAGATTTCTGGAAGATGCTTAATGAGCCAGAGG
ACCAGGCCCCAGGAGGGGAGGAGGTGCCGGCTGAGGAGCAGGACCCAAGCCCTGAGGCAGCAGA
TTCAGCTTCTGGTGCTCCCAATGATTTTCAGAACAACGTGCAGGTCAAAGTCATTCGAAGCCCT
GCGGATTTGATTCGATTCATAGAGGAGCTGAAAGGTGGAACAAAAAAGGGGAAGCCAAATATAG
GCCAAGAGCAGCCTGTGGATGATGCTGCAGAAGTCCCTCAGAGGGAACCAGAGAAGGAAAGGGG
TGATCCAGAACGGCAGAGAGAGATGGAAGAAGAGGAGGATGAGGATGAGGATGAGGATGAAGAT
GAGGATGAACGGCAGTTACTGGGAGAATTTGAGAAGGAACTGGAAGGGATCCTGCTTCCGTCAG
ACCGAGACCGGCTCCGTTCGGAGGTGAAGGCTGGCATGGAGCGGGAACTGGAAAACATCATCCA
GGAGACAGAGAAAGAGCTGGACCCAGATGGGCTGAAGAAGGAGTCAGAGCGGGATCGGGCAATG
CTGGCTCTCACATCCACTCTCAACAAACTCATCAAAAGACTGGAGGAAAAACAGAGTCCAGAGC
TGGTGAAGAAGCACAAGAAAAAGAGGGTTGTCCCCAAAAAGCCTCCCCCATCACCCCAACCTAC
AGGGAAAATTGAGATCAAAATTGTCCGCCCATGGGCTGAAGGGACTGAAGAGGGTGCACGTTGG
CTGACTGATGAGGACACGAGAAACCTCAAGGAGATCTTCTTCAATATCTTGGTGCCGGGAGCTG
AAGAGGCCCAGAAGGAACGCCAGCGGCAGAAAGAGCTGGAGAGCAATTACCGCCGGGTGTGGGG
CTCTCCAGGTGGGGAGGGCACAGGGGACCTGGACGAATTTGACTTCTGAGACCAACACTACACT
TGACCCTTCACGGAATCCAGACTCTTCCTGGACTGGCTTGCCTCCTCCCCACCTCCCCACCCTG
GAACCCCTGAGGGCCAAACAGCAGAGTGGAGCTGAGCTGTGGACCTCTCGGGCAACTCTGTGGG
TGTGGGGGCCCTGGGTGAATGCTGCTGCCCCTGCTGGCAGCCACCTTGAGACCTCACCGGGCCT
GTGATATTTGCTCTCCTGAACTCTCACTCAATCCTCTTCCTCTCCTCTGTGGCTTTTCCTGTTA
TTGTCCCCTAATGATAGGATATTCCCTGCTGCCTACCTGGAGATTCAGTAGGATCTTTTGAGTG
GAGGTGGGTAGAGAGAGCAAGGAGGGCAGGACACTTAGCAGGCACTGAGCAAGCAGGCCCCCAC
CTGCCCTTAGTGATGTTTGGAGTCGTTTTACCCTCTTCTATTGAATTGCCTTGGGATTTCCTTC
TCCCTTTCCCTGCCCACCCTGTCCCCTACAATTTGTGCTTCTGAGTTGAGGAGCCTTCACCTCT
GTTGCTGAGGAAATGGTAGAATGCTGCCTATCACCTCCAGCACAATCCCAGTGAAAAAGGTGTG
AAGCACCCACCATGTTCTTGAACAATCAGGTTTCTAAATAAACAACTGGACCATCAA

hide sequence

RefSeq Acc Id:

NM_001261423 ⟹ NP_001248352

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,694,132 - 57,721,557 (+)	NCBI
GRCh37	12	58,087,738 - 58,115,340 (+)	NCBI
HuRef	12	55,124,606 - 55,152,176 (+)	NCBI
CHM1_1	12	58,055,537 - 58,083,142 (+)	NCBI
T2T-CHM13v2.0	12	57,662,503 - 57,689,908 (+)	NCBI

Sequence:

show sequence

AGATTCTCTGCATAAGAAGGGGAACGAAAGATGGCGGCGGAAACGCTGCTGTCCAGTTTGTTAG
GACTGCTGCTTCTGGGACTCCTGTTACCCGCAAGTCTGACCGGCGGTGTCGGGAGCCTGAACCT
GGAGGAGCTGAGTGAGATGCGTTATGGGATCGAGATCCTGCCGTTGCCTGTCATGGGAGGGCAG
ACAAAGGACTGGTGGACATATGAATTCTGTTATGGACGCCACATCCAGCAATACCACATGGAAG
ATTCAGAGATCAAAGGTGAAGTCCTCTATCTCGGCTACTACCAATCAGCCTTCGACTGGGATGA
TGAAACAGCCAAGGCCTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAAT
GGGTCCAAGTGCGACCTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGTTCCTCTGTGACGAGG
GTGCAGGTATCTCTGGGGACTACATCGATCGCGTGGACGAGCCCTTGTCCTGCTCTTATGTGCT
GACCATTCGCACTCCTCGGCTCTGCCCCCACCCTCTCCTCCGGCCCCCACCCAGTGCTGCACCG
CAGGCCATCCTCTGTCACCCTTCCCTACAGCCTGAGGAGTACATGGCCTACGTTCAGAGGCAAG
CCGACTCAAAGCAGTATGGAGATAAAATCATAGAGGAGCTGCAAGATCTAGGCCCCCAAGTGTG
GAGTGAGACCAAGTCTGGGGTGGCACCCCAAAAGATGGCAGGTGCGAGCCCGACCAAGGATGAC
AGTAAGGACTCAGATTTCTGGAAGATGCTTAATGAGCCAGAGGACCAGGCCCCAGGAGGGGAGG
AGGTGCCGGCTGAGGAGCAGGACCCAAGCCCTGAGGCAGCAGATTCAGCTTCTGGTGCTCCCAA
TGATTTTCAGAACAACGTGCAGGTCAAAGTCATTCGAAGCCCTGCGGATTTGATTCGATTCATA
GAGGAGCTGAAAGGTGGAACAAAAAAGGGGAAGCCAAATATAGGCCAAGAGCAGCCTGTGGATG
ATGCTGCAGAAGTCCCTCAGAGGGAACCAGAGAAGGAAAGGGGTGATCCAGAACGGCAGAGAGA
GATGGAAGAAGAGGAGGATGAGGATGAGGATGAGGATGAAGATGAGGATGAACGGCAGTTACTG
GGAGAATTTGAGAAGGAACTGGAAGGGATCCTGCTTCCGTCAGACCGAGACCGGCTCCGTTCGG
AGACAGAGAAAGAGCTGGACCCAGATGGGCTGAAGAAGGAGTCAGAGCGGGATCGGGCAATGCT
GGCTCTCACATCCACTCTCAACAAACTCATCAAAAGACTGGAGGAAAAACAGAGTCCAGAGCTG
GTGAAGAAGCACAAGAAAAAGAGGGTTGTCCCCAAAAAGCCTCCCCCATCACCCCAACCTACAG
GGAAAATTGAGATCAAAATTGTCCGCCCATGGGCTGAAGGGACTGAAGAGGGTGCACGTTGGCT
GACTGATGAGGACACGAGAAACCTCAAGGAGATCTTCTTCAATATCTTGGTGCCGGGAGCTGAA
GAGGCCCAGAAGGAACGCCAGCGGCAGAAAGAGCTGGAGAGCAATTACCGCCGGGTGTGGGGCT
CTCCAGGTGGGGAGGGCACAGGGGACCTGGACGAATTTGACTTCTGAGACCAACACTACACTTG
ACCCTTCACGGAATCCAGACTCTTCCTGGACTGGCTTGCCTCCTCCCCACCTCCCCACCCTGGA
ACCCCTGAGGGCCAAACAGCAGAGTGGAGCTGAGCTGTGGACCTCTCGGGCAACTCTGTGGGTG
TGGGGGCCCTGGGTGAATGCTGCTGCCCCTGCTGGCAGCCACCTTGAGACCTCACCGGGCCTGT
GATATTTGCTCTCCTGAACTCTCACTCAATCCTCTTCCTCTCCTCTGTGGCTTTTCCTGTTATT
GTCCCCTAATGATAGGATATTCCCTGCTGCCTACCTGGAGATTCAGTAGGATCTTTTGAGTGGA
GGTGGGTAGAGAGAGCAAGGAGGGCAGGACACTTAGCAGGCACTGAGCAAGCAGGCCCCCACCT
GCCCTTAGTGATGTTTGGAGTCGTTTTACCCTCTTCTATTGAATTGCCTTGGGATTTCCTTCTC
CCTTTCCCTGCCCACCCTGTCCCCTACAATTTGTGCTTCTGAGTTGAGGAGCCTTCACCTCTGT
TGCTGAGGAAATGGTAGAATGCTGCCTATCACCTCCAGCACAATCCCAGTGAAAAAGGTGTGAA
GCACCCACCATGTTCTTGAACAATCAGGTTTCTAAATAAACAACTGGACCATCAA

hide sequence

RefSeq Acc Id:

NM_001410978 ⟹ NP_001397907

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,694,132 - 57,721,557 (+)	NCBI
T2T-CHM13v2.0	12	57,662,503 - 57,689,908 (+)	NCBI

RefSeq Acc Id:

NM_001410979 ⟹ NP_001397908

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,694,132 - 57,721,557 (+)	NCBI
T2T-CHM13v2.0	12	57,662,503 - 57,689,908 (+)	NCBI

RefSeq Acc Id:

NM_001410980 ⟹ NP_001397909

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,694,132 - 57,721,557 (+)	NCBI
T2T-CHM13v2.0	12	57,662,503 - 57,689,908 (+)	NCBI

RefSeq Acc Id:

NM_006812 ⟹ NP_006803

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	57,694,132 - 57,721,557 (+)	NCBI
GRCh37	12	58,087,738 - 58,115,340 (+)	ENTREZGENE
Build 36	12	56,374,153 - 56,401,607 (+)	NCBI Archive
HuRef	12	55,124,606 - 55,152,176 (+)	ENTREZGENE
CHM1_1	12	58,055,537 - 58,083,142 (+)	NCBI
T2T-CHM13v2.0	12	57,662,503 - 57,689,908 (+)	NCBI

Sequence:

show sequence

AGATTCTCTGCATAAGAAGGGGAACGAAAGATGGCGGCGGAAACGCTGCTGTCCAGTTTGTTAG
GACTGCTGCTTCTGGGACTCCTGTTACCCGCAAGTCTGACCGGCGGTGTCGGGAGCCTGAACCT
GGAGGAGCTGAGTGAGATGCGTTATGGGATCGAGATCCTGCCGTTGCCTGTCATGGGAGGGCAG
AGCCAATCTTCGGACGTGGTGATTGTCTCCTCTAAGTACAAACAGCGCTATGAGTGTCGCCTGC
CAGCTGGAGCTATTCACTTCCAGCGTGAAAGGGAGGAGGAAACACCTGCTTACCAAGGGCCTGG
GATCCCTGAGTTGTTGAGCCCAATGAGAGATGCTCCCTGCTTGCTGAAGACAAAGGACTGGTGG
ACATATGAATTCTGTTATGGACGCCACATCCAGCAATACCACATGGAAGATTCAGAGATCAAAG
GTGAAGTCCTCTATCTCGGCTACTACCAATCAGCCTTCGACTGGGATGATGAAACAGCCAAGGC
CTCCAAGCAGCATCGTCTTAAACGCTACCACAGCCAGACCTATGGCAATGGGTCCAAGTGCGAC
CTTAATGGGAGGCCCCGGGAGGCCGAGGTTCGGTTCCTCTGTGACGAGGGTGCAGGTATCTCTG
GGGACTACATCGATCGCGTGGACGAGCCCTTGTCCTGCTCTTATGTGCTGACCATTCGCACTCC
TCGGCTCTGCCCCCACCCTCTCCTCCGGCCCCCACCCAGTGCTGCACCGCAGGCCATCCTCTGT
CACCCTTCCCTACAGCCTGAGGAGTACATGGCCTACGTTCAGAGGCAAGCCGACTCAAAGCAGT
ATGGAGATAAAATCATAGAGGAGCTGCAAGATCTAGGCCCCCAAGTGTGGAGTGAGACCAAGTC
TGGGGTGGCACCCCAAAAGATGGCAGGTGCGAGCCCGACCAAGGATGACAGTAAGGACTCAGAT
TTCTGGAAGATGCTTAATGAGCCAGAGGACCAGGCCCCAGGAGGGGAGGAGGTGCCGGCTGAGG
AGCAGGACCCAAGCCCTGAGGCAGCAGATTCAGCTTCTGGTGCTCCCAATGATTTTCAGAACAA
CGTGCAGGTCAAAGTCATTCGAAGCCCTGCGGATTTGATTCGATTCATAGAGGAGCTGAAAGGT
GGAACAAAAAAGGGGAAGCCAAATATAGGCCAAGAGCAGCCTGTGGATGATGCTGCAGAAGTCC
CTCAGAGGGAACCAGAGAAGGAAAGGGGTGATCCAGAACGGCAGAGAGAGATGGAAGAAGAGGA
GGATGAGGATGAGGATGAGGATGAAGATGAGGATGAACGGCAGTTACTGGGAGAATTTGAGAAG
GAACTGGAAGGGATCCTGCTTCCGTCAGACCGAGACCGGCTCCGTTCGGAGGTGAAGGCTGGCA
TGGAGCGGGAACTGGAAAACATCATCCAGGAGACAGAGAAAGAGCTGGACCCAGATGGGCTGAA
GAAGGAGTCAGAGCGGGATCGGGCAATGCTGGCTCTCACATCCACTCTCAACAAACTCATCAAA
AGACTGGAGGAAAAACAGAGTCCAGAGCTGGTGAAGAAGCACAAGAAAAAGAGGGTTGTCCCCA
AAAAGCCTCCCCCATCACCCCAACCTACAGAGGAGGATCCTGAGCACAGAGTCCGGGTCCGGGT
CACCAAGCTCCGTCTCGGAGGCCCTAATCAGGATCTGACTGTCCTCGAGATGAAACGGGAAAAC
CCACAGCTGAAACAAATCGAGGGGCTGGTGAAGGAGCTGCTGGAGAGGGAGGGACTCACAGCTG
CAGGGAAAATTGAGATCAAAATTGTCCGCCCATGGGCTGAAGGGACTGAAGAGGGTGCACGTTG
GCTGACTGATGAGGACACGAGAAACCTCAAGGAGATCTTCTTCAATATCTTGGTGCCGGGAGCT
GAAGAGGCCCAGAAGGAACGCCAGCGGCAGAAAGAGCTGGAGAGCAATTACCGCCGGGTGTGGG
GCTCTCCAGGTGGGGAGGGCACAGGGGACCTGGACGAATTTGACTTCTGAGACCAACACTACAC
TTGACCCTTCACGGAATCCAGACTCTTCCTGGACTGGCTTGCCTCCTCCCCACCTCCCCACCCT
GGAACCCCTGAGGGCCAAACAGCAGAGTGGAGCTGAGCTGTGGACCTCTCGGGCAACTCTGTGG
GTGTGGGGGCCCTGGGTGAATGCTGCTGCCCCTGCTGGCAGCCACCTTGAGACCTCACCGGGCC
TGTGATATTTGCTCTCCTGAACTCTCACTCAATCCTCTTCCTCTCCTCTGTGGCTTTTCCTGTT
ATTGTCCCCTAATGATAGGATATTCCCTGCTGCCTACCTGGAGATTCAGTAGGATCTTTTGAGT
GGAGGTGGGTAGAGAGAGCAAGGAGGGCAGGACACTTAGCAGGCACTGAGCAAGCAGGCCCCCA
CCTGCCCTTAGTGATGTTTGGAGTCGTTTTACCCTCTTCTATTGAATTGCCTTGGGATTTCCTT
CTCCCTTTCCCTGCCCACCCTGTCCCCTACAATTTGTGCTTCTGAGTTGAGGAGCCTTCACCTC
TGTTGCTGAGGAAATGGTAGAATGCTGCCTATCACCTCCAGCACAATCCCAGTGAAAAAGGTGT
GAAGCACCCACCATGTTCTTGAACAATCAGGTTTCTAAATAAACAACTGGACCATCAA

hide sequence

RefSeq Acc Id:

XM_054370840 ⟹ XP_054226815

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	12	57,662,503 - 57,689,908 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001017956	(Get FASTA)	NCBI Sequence Viewer
	NP_001017957	(Get FASTA)	NCBI Sequence Viewer
	NP_001017958	(Get FASTA)	NCBI Sequence Viewer
	NP_001248349	(Get FASTA)	NCBI Sequence Viewer
	NP_001248350	(Get FASTA)	NCBI Sequence Viewer
	NP_001248351	(Get FASTA)	NCBI Sequence Viewer
	NP_001248352	(Get FASTA)	NCBI Sequence Viewer
	NP_001397907	(Get FASTA)	NCBI Sequence Viewer
	NP_001397908	(Get FASTA)	NCBI Sequence Viewer
	NP_001397909	(Get FASTA)	NCBI Sequence Viewer
	NP_006803	(Get FASTA)	NCBI Sequence Viewer
	XP_054226815	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB06495	(Get FASTA)	NCBI Sequence Viewer
	AAC39523	(Get FASTA)	NCBI Sequence Viewer
	AAH00532	(Get FASTA)	NCBI Sequence Viewer
	AAH06506	(Get FASTA)	NCBI Sequence Viewer
	AAH07254	(Get FASTA)	NCBI Sequence Viewer
	AAH23513	(Get FASTA)	NCBI Sequence Viewer
	ABO65091	(Get FASTA)	NCBI Sequence Viewer
	BAA24362	(Get FASTA)	NCBI Sequence Viewer
	BAA24363	(Get FASTA)	NCBI Sequence Viewer
	BAF84063	(Get FASTA)	NCBI Sequence Viewer
	BAG56939	(Get FASTA)	NCBI Sequence Viewer
	BAG57972	(Get FASTA)	NCBI Sequence Viewer
	BAG59349	(Get FASTA)	NCBI Sequence Viewer
	BAG60733	(Get FASTA)	NCBI Sequence Viewer
	BAG64798	(Get FASTA)	NCBI Sequence Viewer
	BAG65333	(Get FASTA)	NCBI Sequence Viewer
	BAH13933	(Get FASTA)	NCBI Sequence Viewer
	CAG33072	(Get FASTA)	NCBI Sequence Viewer
	EAW97044	(Get FASTA)	NCBI Sequence Viewer
	EAW97045	(Get FASTA)	NCBI Sequence Viewer
	EAW97046	(Get FASTA)	NCBI Sequence Viewer
	EAW97047	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000257966
	ENSP00000257966.8
	ENSP00000318165
	ENSP00000318165.7
	ENSP00000373794
	ENSP00000373794.5
	ENSP00000373798
	ENSP00000373798.6
	ENSP00000389632
	ENSP00000389632.2
	ENSP00000407360
	ENSP00000407360.2
	ENSP00000413112.2
	ENSP00000447031.1
	ENSP00000447163.1
	ENSP00000447451.1
	ENSP00000447719.1
	ENSP00000447866
	ENSP00000447866.1
	ENSP00000448478.1
	ENSP00000449789.1
	ENSP00000450010
	ENSP00000450010.1
	ENSP00000515125.1
	ENSP00000515126.1
	ENSP00000515127.1
	ENSP00000515128
	ENSP00000515128.1
	ENSP00000515129.1
	ENSP00000515130
	ENSP00000515130.1
	ENSP00000515131.1
	ENSP00000515132.1
	ENSP00000515133.1
	ENSP00000515134
	ENSP00000515134.1
	ENSP00000515135.1
	ENSP00000515136.1
	ENSP00000515138.1
GenBank Protein	Q13438	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_006803 ⟸ NM_006812
- Peptide Label:	isoform 1 precursor
- UniProtKB:	Q8IZ58 (UniProtKB/Swiss-Prot), Q6IBL2 (UniProtKB/Swiss-Prot), O00579 (UniProtKB/Swiss-Prot), G3XA88 (UniProtKB/Swiss-Prot), F8VUH2 (UniProtKB/Swiss-Prot), E7EW91 (UniProtKB/Swiss-Prot), E7ENT8 (UniProtKB/Swiss-Prot), B4E1I6 (UniProtKB/Swiss-Prot), B4DPX1 (UniProtKB/Swiss-Prot), B4DE28 (UniProtKB/Swiss-Prot), A8K5Q9 (UniProtKB/Swiss-Prot), A6NLB2 (UniProtKB/Swiss-Prot), A6NFR7 (UniProtKB/Swiss-Prot), A6NDD1 (UniProtKB/Swiss-Prot), Q9BW99 (UniProtKB/Swiss-Prot), Q13438 (UniProtKB/Swiss-Prot), A0A8V8TQI4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAETLLSSLLGLLLLGLLLPASLTGGVGSLNLEELSEMRYGIEILPLPVMGGQSQSSDVVIVS SKYKQRYECRLPAGAIHFQREREEETPAYQGPGIPELLSPMRDAPCLLKTKDWWTYEFCYGRHI QQYHMEDSEIKGEVLYLGYYQSAFDWDDETAKASKQHRLKRYHSQTYGNGSKCDLNGRPREAEV RFLCDEGAGISGDYIDRVDEPLSCSYVLTIRTPRLCPHPLLRPPPSAAPQAILCHPSLQPEEYM AYVQRQADSKQYGDKIIEELQDLGPQVWSETKSGVAPQKMAGASPTKDDSKDSDFWKMLNEPED QAPGGEEVPAEEQDPSPEAADSASGAPNDFQNNVQVKVIRSPADLIRFIEELKGGTKKGKPNIG QEQPVDDAAEVPQREPEKERGDPERQREMEEEEDEDEDEDEDEDERQLLGEFEKELEGILLPSD RDRLRSEVKAGMERELENIIQETEKELDPDGLKKESERDRAMLALTSTLNKLIKRLEEKQSPEL VKKHKKKRVVPKKPPPSPQPTEEDPEHRVRVRVTKLRLGGPNQDLTVLEMKRENPQLKQIEGLV KELLEREGLTAAGKIEIKIVRPWAEGTEEGARWLTDEDTRNLKEIFFNILVPGAEEAQKERQRQ KELESNYRRVWGSPGGEGTGDLDEFDF hide sequence

RefSeq Acc Id:	NP_001017956 ⟸ NM_001017956
- Peptide Label:	isoform 2 precursor
- UniProtKB:	A0A8V8TRD7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAETLLSSLLGLLLLGLLLPASLTGGVGSLNLEELSEMRYGIEILPLPVMGGQSQSSDVVIVS SKYKQRYECRLPAGAIHFQREREEETPAYQGPGIPELLSPMRDAPCLLKTKDWWTYEFCYGRHI QQYHMEDSEIKGEVLYLGYYQSAFDWDDETAKASKQHRLKRYHSQTYGNGSKCDLNGRPREAEV RFLCDEGAGISGDYIDRVDEPLSCSYVLTIRTPRLCPHPLLRPPPSAAPQAILCHPSLQPEEYM AYVQRQADSKQYGDKIIEELQDLGPQVWSETKSGVAPQKMAGASPTKDDSKDSDFWKMLNEPED QAPGGEEVPAEEQDPSPEAADSASGAPNDFQNNVQVKVIRSPADLIRFIEELKGGTKKGKPNIG QEQPVDDAAEVPQREPEKERGDPERQREMEEEEDEDEDEDEDEDERQLLGEFEKELEGILLPSD RDRLRSEVKAGMERELENIIQETEKELDPDGLKKESERDRAMLALTSTLNKLIKRLEEKQSPEL VKKHKKKRVVPKKPPPSPQPTGKIEIKIVRPWAEGTEEGARWLTDEDTRNLKEIFFNILVPGAE EAQKERQRQKELESNYRRVWGSPGGEGTGDLDEFDF hide sequence

RefSeq Acc Id:	NP_001017958 ⟸ NM_001017958
- Peptide Label:	isoform 4 precursor
- UniProtKB:	A0A8V8TQI4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAETLLSSLLGLLLLGLLLPASLTGGVGSLNLEELSEMRYGIEILPLPVMGGQSQSSDVVIVS SKYKQRYECRLPAGAIHFQREREEETPAYQGPGIPELLSPMRDAPCLLKTKDWWTYEFCYGRHI QQYHMEDSEIKGEVLYLGYYQSAFDWDDETAKASKQHRLKRYHSQTYGNGSKCDLNGRPREAEV RFLCDEGAGISGDYIDRVDEPLSCSYVLTIRTPRLCPHPLLRPPPSAAPQAILCHPSLQPEEYM AYVQRQADSKQYGDKIIEELQDLGPQVWSETKSGVAPQKMAGASPTKDDSKDSDFWKMLNEPED QAPGGEEVPAEEQDPSPEAADSASGAPNDFQNNVQVKVIRSPADLIRFIEELKGGTKKGKPNIG QEQPVDDAAEVPQREPEKERGDPERQREMEEEEDEDEDEDEDEDERQLLGEFEKELEGILLPSD RDRLRSETEKELDPDGLKKESERDRAMLALTSTLNKLIKRLEEKQSPELVKKHKKKRVVPKKPP PSPQPTEEDPEHRVRVRVTKLRLGGPNQDLTVLEMKRENPQLKQIEGLVKELLEREGLTAAGKI EIKIVRPWAEGTEEGARWLTDEDTRNLKEIFFNILVPGAEEAQKERQRQKELESNYRRVWGSPG GEGTGDLDEFDF hide sequence

RefSeq Acc Id:	NP_001017957 ⟸ NM_001017957
- Peptide Label:	isoform 3 precursor
- UniProtKB:	A0A8V8TRD7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAETLLSSLLGLLLLGLLLPASLTGGVGSLNLEELSEMRYGIEILPLPVMGGQSQSSDVVIVS SKYKQRYECRLPAGAIHFQREREEETPAYQGPGIPELLSPMRDAPCLLKTKDWWTYEFCYGRHI QQYHMEDSEIKGEVLYLGYYQSAFDWDDETAKASKQHRLKRYHSQTYGNGSKCDLNGRPREAEV RFLCDEGAGISGDYIDRVDEPLSCSYVLTIRTPRLCPHPLLRPPPSAAPQAILCHPSLQPEEYM AYVQRQADSKQYGDKIIEELQDLGPQVWSETKSGVAPQKMAGASPTKDDSKDSDFWKMLNEPED QAPGGEEVPAEEQDPSPEAADSASGAPNDFQNNVQVKVIRSPADLIRFIEELKGGTKKGKPNIG QEQPVDDAAEVPQREPEKERGDPERQREMEEEEDEDEDEDEDEDERQLLGEFEKELEGILLPSD RDRLRSETEKELDPDGLKKESERDRAMLALTSTLNKLIKRLEEKQSPELVKKHKKKRVVPKKPP PSPQPTGKIEIKIVRPWAEGTEEGARWLTDEDTRNLKEIFFNILVPGAEEAQKERQRQKELESN YRRVWGSPGGEGTGDLDEFDF hide sequence

RefSeq Acc Id:	NP_001248349 ⟸ NM_001261420
- Peptide Label:	isoform 5 precursor
- UniProtKB:	A0A8V8TRD7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAETLLSSLLGLLLLGLLLPASLTGGVGSLNLEELSEMRYGIEILPLPVMGGQSQSSDVVIVS SKYKQRYECRLPAGAIHFQREREEETPAYQGPGIPELLSPMRDAPCLLKTKDWWTYEFCYGRHI QQYHMEDSEIKGEVLYLGYYQSAFDWDDETAKASKQHRLKRYHSQTYGNGSKCDLNGRPREAEV RFLCDEGAGISGDYIDRVDEPLSCSYVLTIRTPRLCPHPLLRPPPSAAPQAILCHPSLQPEEYM AYVQRQAVDSKQYGDKIIEELQDLGPQVWSETKSGVAPQKMAGASPTKDDSKDSDFWKMLNEPE DQAPGGEEVPAEEQDPSPEAADSASGAPNDFQNNVQVKVIRSPADLIRFIEELKGGTKKGKPNI GQEQPVDDAAEVPQREPEKERGDPERQREMEEEEDEDEDEDEDEDERQLLGEFEKELEGILLPS DRDRLRSEVKAGMERELENIIQETEKELDPDGLKKESERDRAMLALTSTLNKLIKRLEEKQSPE LVKKHKKKRVVPKKPPPSPQPTGKIEIKIVRPWAEGTEEGARWLTDEDTRNLKEIFFNILVPGA EEAQKERQRQKELESNYRRVWGSPGGEGTGDLDEFDF hide sequence

RefSeq Acc Id:	NP_001248350 ⟸ NM_001261421
- Peptide Label:	isoform 6 precursor
- UniProtKB:	A0A8V8TRD7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAETLLSSLLGLLLLGLLLPASLTGGVGSLNLEELSEMRYGIEILPLPVMGGQSQSSDVVIVS SKYKQRYECRLPAGAIHFQREREEETPAYQGPGIPELLSPMRDAPCLLKTKDWWTYEFCYGRHI QQYHMEDSEIKGEVLYLGYYQSAFDWDDETAKFLCDEGAGISGDYIDRVDEPLSCSYVLTIRTP RLCPHPLLRPPPSAAPQAILCHPSLQPEEYMAYVQRQAVDSKQYGDKIIEELQDLGPQVWSETK SGVAPQKMAGASPTKDDSKDSDFWKMLNEPEDQAPGGEEVPAEEQDPSPEAADSASGAPNDFQN NVQVKVIRSPADLIRFIEELKGGTKKGKPNIGQEQPVDDAAEVPQREPEKERGDPERQREMEEE EDEDEDEDEDEDERQLLGEFEKELEGILLPSDRDRLRSEVKAGMERELENIIQETEKELDPDGL KKESERDRAMLALTSTLNKLIKRLEEKQSPELVKKHKKKRVVPKKPPPSPQPTGKIEIKIVRPW AEGTEEGARWLTDEDTRNLKEIFFNILVPGAEEAQKERQRQKELESNYRRVWGSPGGEGTGDLD EFDF hide sequence

RefSeq Acc Id:	NP_001248351 ⟸ NM_001261422
- Peptide Label:	isoform 7 precursor
- UniProtKB:	A0A8V8TRD7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAETLLSSLLGLLLLGLLLPASLTGGVGSLNLEELSEMRYGIEILPLPVMGGQSQSSDVVIVS SKYKQRYECRLPAGAIHFQREREEETPAYQGPGIPELLSPMRDAPCLLKTKDWWTYEFCYGRHI QQYHMEDSEIKGEFLCDEGAGISGDYIDRVDEPLSCSYVLTIRTPRLCPHPLLRPPPSAAPQAI LCHPSLQPEEYMAYVQRQADSKQYGDKIIEELQDLGPQVWSETKSGVAPQKMAGASPTKDDSKD SDFWKMLNEPEDQAPGGEEVPAEEQDPSPEAADSASGAPNDFQNNVQVKVIRSPADLIRFIEEL KGGTKKGKPNIGQEQPVDDAAEVPQREPEKERGDPERQREMEEEEDEDEDEDEDEDERQLLGEF EKELEGILLPSDRDRLRSEVKAGMERELENIIQETEKELDPDGLKKESERDRAMLALTSTLNKL IKRLEEKQSPELVKKHKKKRVVPKKPPPSPQPTGKIEIKIVRPWAEGTEEGARWLTDEDTRNLK EIFFNILVPGAEEAQKERQRQKELESNYRRVWGSPGGEGTGDLDEFDF hide sequence

RefSeq Acc Id:	NP_001248352 ⟸ NM_001261423
- Peptide Label:	isoform 8 precursor
- UniProtKB:	A0A8V8TRD7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAAETLLSSLLGLLLLGLLLPASLTGGVGSLNLEELSEMRYGIEILPLPVMGGQTKDWWTYEFC YGRHIQQYHMEDSEIKGEVLYLGYYQSAFDWDDETAKASKQHRLKRYHSQTYGNGSKCDLNGRP REAEVRFLCDEGAGISGDYIDRVDEPLSCSYVLTIRTPRLCPHPLLRPPPSAAPQAILCHPSLQ PEEYMAYVQRQADSKQYGDKIIEELQDLGPQVWSETKSGVAPQKMAGASPTKDDSKDSDFWKML NEPEDQAPGGEEVPAEEQDPSPEAADSASGAPNDFQNNVQVKVIRSPADLIRFIEELKGGTKKG KPNIGQEQPVDDAAEVPQREPEKERGDPERQREMEEEEDEDEDEDEDEDERQLLGEFEKELEGI LLPSDRDRLRSETEKELDPDGLKKESERDRAMLALTSTLNKLIKRLEEKQSPELVKKHKKKRVV PKKPPPSPQPTGKIEIKIVRPWAEGTEEGARWLTDEDTRNLKEIFFNILVPGAEEAQKERQRQK ELESNYRRVWGSPGGEGTGDLDEFDF hide sequence

RefSeq Acc Id:

ENSP00000407360 ⟸ ENST00000439210

RefSeq Acc Id:

ENSP00000413112 ⟸ ENST00000413095

RefSeq Acc Id:

ENSP00000373794 ⟸ ENST00000389142

RefSeq Acc Id:

ENSP00000373798 ⟸ ENST00000389146

RefSeq Acc Id:

ENSP00000257966 ⟸ ENST00000257966

RefSeq Acc Id:

ENSP00000447031 ⟸ ENST00000547079

RefSeq Acc Id:

ENSP00000448478 ⟸ ENST00000550848

RefSeq Acc Id:

ENSP00000447719 ⟸ ENST00000550372

RefSeq Acc Id:

ENSP00000447866 ⟸ ENST00000551035

RefSeq Acc Id:

ENSP00000318165 ⟸ ENST00000315970

RefSeq Acc Id:

ENSP00000449789 ⟸ ENST00000551285

RefSeq Acc Id:

ENSP00000447163 ⟸ ENST00000552423

RefSeq Acc Id:

ENSP00000450010 ⟸ ENST00000552285

RefSeq Acc Id:

ENSP00000447451 ⟸ ENST00000552787

RefSeq Acc Id:

ENSP00000389632 ⟸ ENST00000435406

RefSeq Acc Id:

ENSP00000515133 ⟸ ENST00000700664

RefSeq Acc Id:

ENSP00000515125 ⟸ ENST00000700656

RefSeq Acc Id:

ENSP00000515127 ⟸ ENST00000700658

RefSeq Acc Id:

ENSP00000515136 ⟸ ENST00000700668

RefSeq Acc Id:

ENSP00000515129 ⟸ ENST00000700660

RefSeq Acc Id:

ENSP00000515132 ⟸ ENST00000700663

RefSeq Acc Id:

ENSP00000515126 ⟸ ENST00000700657

RefSeq Acc Id:

ENSP00000515135 ⟸ ENST00000700667

RefSeq Acc Id:

ENSP00000515131 ⟸ ENST00000700662

RefSeq Acc Id:

ENSP00000515130 ⟸ ENST00000700661

RefSeq Acc Id:

ENSP00000515138 ⟸ ENST00000700670

RefSeq Acc Id:

ENSP00000515128 ⟸ ENST00000700659

RefSeq Acc Id:

ENSP00000515134 ⟸ ENST00000700665

RefSeq Acc Id:	NP_001397909 ⟸ NM_001410980
- Peptide Label:	isoform 11 precursor
- UniProtKB:	A0A8V8TQI8 (UniProtKB/TrEMBL), A0A8V8TRE0 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001397907 ⟸ NM_001410978
- Peptide Label:	isoform 9 precursor
- UniProtKB:	A0A8V8TR34 (UniProtKB/TrEMBL), A0A8V8TRE0 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001397908 ⟸ NM_001410979
- Peptide Label:	isoform 10 precursor
- UniProtKB:	A0A8V8TPZ4 (UniProtKB/TrEMBL), A0A8V8TRD7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054226815 ⟸ XM_054370840
- Peptide Label:	isoform X1
- UniProtKB:	B7Z8E7 (UniProtKB/TrEMBL)

Protein Domains

MRH Protein OS9-like

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q13438-F1-model_v2	AlphaFold	Q13438	1-667	view protein structure

Promoters

RGD ID:

6790338

Promoter ID:

HG_KWN:15997

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

UC001SPJ.1, UC001SPK.1, UC001SPL.1, UC001SPM.1, UC001SPN.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	56,374,034 - 56,374,534 (+)	MPROMDB

RGD ID:

6851198

Promoter ID:

EP73395

Type:

multiple initiation site

Name:

HS_OS

Description:

Amplified in osteosarcoma.

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

NEDO full length human cDNA sequencing project.; Oligo-capping

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	12	56,374,193 - 56,374,253	EPD

RGD ID:

7224591

Promoter ID:

EPDNEW_H18040

Type:

initiation region

Name:

OS9_1

Description:

OS9, endoplasmic reticulum lectin

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	12	57,694,132 - 57,694,192	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:16994	AgrOrtholog
COSMIC	OS9	COSMIC
Ensembl Genes	ENSG00000135506	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000257966	ENTREZGENE
	ENST00000257966.13	UniProtKB/Swiss-Prot
	ENST00000315970	ENTREZGENE
	ENST00000315970.12	UniProtKB/Swiss-Prot
	ENST00000389142	ENTREZGENE
	ENST00000389142.10	UniProtKB/Swiss-Prot
	ENST00000389146	ENTREZGENE
	ENST00000389146.11	UniProtKB/Swiss-Prot
	ENST00000413095.6	UniProtKB/TrEMBL
	ENST00000435406	ENTREZGENE
	ENST00000435406.6	UniProtKB/Swiss-Prot
	ENST00000439210	ENTREZGENE
	ENST00000439210.6	UniProtKB/Swiss-Prot
	ENST00000547079.5	UniProtKB/TrEMBL
	ENST00000550372.5	UniProtKB/TrEMBL
	ENST00000550848.5	UniProtKB/TrEMBL
	ENST00000551035	ENTREZGENE
	ENST00000551035.5	UniProtKB/Swiss-Prot
	ENST00000551285.5	UniProtKB/TrEMBL
	ENST00000552285	ENTREZGENE
	ENST00000552285.6	UniProtKB/Swiss-Prot
	ENST00000552423.2	UniProtKB/TrEMBL
	ENST00000552787.5	UniProtKB/TrEMBL
	ENST00000700656.1	UniProtKB/TrEMBL
	ENST00000700657.1	UniProtKB/TrEMBL
	ENST00000700658.1	UniProtKB/TrEMBL
	ENST00000700659	ENTREZGENE
	ENST00000700659.1	UniProtKB/TrEMBL
	ENST00000700660.1	UniProtKB/TrEMBL
	ENST00000700661	ENTREZGENE
	ENST00000700661.1	UniProtKB/TrEMBL
	ENST00000700662.1	UniProtKB/TrEMBL
	ENST00000700663.1	UniProtKB/TrEMBL
	ENST00000700664.1	UniProtKB/TrEMBL
	ENST00000700665	ENTREZGENE
	ENST00000700665.1	UniProtKB/TrEMBL
	ENST00000700667.1	UniProtKB/TrEMBL
	ENST00000700668.1	UniProtKB/TrEMBL
	ENST00000700670.1	UniProtKB/TrEMBL
Gene3D-CATH	2.70.130.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000135506	GTEx
HGNC ID	HGNC:16994	ENTREZGENE
Human Proteome Map	OS9	Human Proteome Map
InterPro	Man6P_isomerase_rcpt-bd_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	MRH_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	OS-9-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	OS9-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:10956	UniProtKB/Swiss-Prot
NCBI Gene	10956	ENTREZGENE
OMIM	609677	OMIM
PANTHER	PROTEIN OS-9	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR15414	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	PRKCSH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA164724245	PharmGKB
PROSITE	MRH	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF50911	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A8V8TPZ4	ENTREZGENE, UniProtKB/TrEMBL
	A0A8V8TPZ9_HUMAN	UniProtKB/TrEMBL
	A0A8V8TQ04_HUMAN	UniProtKB/TrEMBL
	A0A8V8TQI0_HUMAN	UniProtKB/TrEMBL
	A0A8V8TQI2_HUMAN	UniProtKB/TrEMBL
	A0A8V8TQI4	ENTREZGENE, UniProtKB/TrEMBL
	A0A8V8TQI8	ENTREZGENE, UniProtKB/TrEMBL
	A0A8V8TQI9_HUMAN	UniProtKB/TrEMBL
	A0A8V8TR31_HUMAN	UniProtKB/TrEMBL
	A0A8V8TR34	ENTREZGENE, UniProtKB/TrEMBL
	A0A8V8TR37_HUMAN	UniProtKB/TrEMBL
	A0A8V8TRD7	ENTREZGENE, UniProtKB/TrEMBL
	A0A8V8TRE0	ENTREZGENE, UniProtKB/TrEMBL
	A6NDD1	ENTREZGENE
	A6NFR7	ENTREZGENE
	A6NLB2	ENTREZGENE
	A8K5Q9	ENTREZGENE
	B4DE28	ENTREZGENE
	B4DPX1	ENTREZGENE
	B4E1I6	ENTREZGENE
	B4E321_HUMAN	UniProtKB/TrEMBL
	B7Z8E7	ENTREZGENE, UniProtKB/TrEMBL
	E7ENT8	ENTREZGENE
	E7EW91	ENTREZGENE
	F8VUH2	ENTREZGENE
	F8VWQ2_HUMAN	UniProtKB/TrEMBL
	F8VZI7_HUMAN	UniProtKB/TrEMBL
	F8W0R2_HUMAN	UniProtKB/TrEMBL
	F8W1N0_HUMAN	UniProtKB/TrEMBL
	F8W1V2_HUMAN	UniProtKB/TrEMBL
	G3XA88	ENTREZGENE
	O00579	ENTREZGENE
	OS9_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q6IBL2	ENTREZGENE
	Q8IZ58	ENTREZGENE
	Q9BR60_HUMAN	UniProtKB/TrEMBL
	Q9BW99	ENTREZGENE
UniProt Secondary	A6NDD1	UniProtKB/Swiss-Prot
	A6NFR7	UniProtKB/Swiss-Prot
	A6NLB2	UniProtKB/Swiss-Prot
	A8K5Q9	UniProtKB/Swiss-Prot
	B4DE28	UniProtKB/Swiss-Prot
	B4DPX1	UniProtKB/Swiss-Prot
	B4E1I6	UniProtKB/Swiss-Prot
	E7ENT8	UniProtKB/Swiss-Prot
	E7EW91	UniProtKB/Swiss-Prot
	E9PEV6	UniProtKB/TrEMBL
	F8VUH2	UniProtKB/Swiss-Prot
	G3XA88	UniProtKB/Swiss-Prot
	O00579	UniProtKB/Swiss-Prot
	Q6IBL2	UniProtKB/Swiss-Prot
	Q8IZ58	UniProtKB/Swiss-Prot
	Q9BW99	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-01-29	OS9	OS9 endoplasmic reticulum lectin	OS9	OS9, endoplasmic reticulum lectin	Symbol and/or name change	5135510	APPROVED
2016-05-19	OS9	OS9, endoplasmic reticulum lectin	OS9	osteosarcoma amplified 9, endoplasmic reticulum lectin	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

RGD Manual Annotations

Imported Annotations - KEGG (archival)

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Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Annotations - KEGG (archival)