REEP1 (receptor accessory protein 1)

Gene: REEP1 (receptor accessory protein 1) Homo sapiens

Analyze

Symbol:

REEP1

Name:

receptor accessory protein 1

RGD ID:

1313134

HGNC Page

HGNC:25786

Description:

Enables microtubule binding activity and olfactory receptor binding activity. Involved in endoplasmic reticulum tubular network organization and protein insertion into membrane. Located in endoplasmic reticulum and membrane. Implicated in autosomal dominant distal hereditary motor neuronopathy 12; autosomal recessive distal hereditary motor neuronopathy 6; and hereditary spastic paraplegia 31.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

C2orf23; chromosome 2 open reading frame 23; DSMA6; FLJ13110; HMN5B; HMND12; HMNR6; receptor expression-enhancing protein 1; SPG31; Yip2a

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):	Reep1 (receptor accessory protein 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Reep1 (receptor accessory protein 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Reep1 (receptor accessory protein 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	REEP1 (receptor accessory protein 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	REEP1 (receptor accessory protein 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Reep1 (receptor accessory protein 1)	NCBI	Ortholog
Sus scrofa (pig):	REEP1 (receptor accessory protein 1)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	REEP1 (receptor accessory protein 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Reep1 (receptor accessory protein 1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Reep1 (receptor accessory protein 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Reep1 (receptor accessory protein 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	reep1 (receptor accessory protein 1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	T19C3.4	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	ReepA	Alliance	DIOPT (OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	reep1.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	reep1.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	2	86,213,993 - 86,338,083 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	86,213,993 - 86,338,083 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	86,441,116 - 86,565,206 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	86,294,633 - 86,418,288 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	86,352,779 - 86,476,435	NCBI
Celera	2	86,269,251 - 86,393,245 (-)	NCBI		Celera
Cytogenetic Map	2	p11.2	NCBI
HuRef	2	86,338,580 - 86,462,643 (-)	NCBI		HuRef
CHM1_1	2	86,370,561 - 86,495,314 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	2	86,216,087 - 86,340,099 (-)	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

atrial fibrillation (EXP)

autosomal dominant distal hereditary motor neuronopathy 12 (IAGP)

autosomal dominant distal hereditary motor neuronopathy 5 (EXP)

autosomal recessive distal hereditary motor neuronopathy 6 (IAGP)

CD8 Deficiency, Familial (IAGP)

Charcot-Marie-Tooth disease (IAGP)

genetic disease (IAGP)

hereditary spastic paraplegia (IAGP)

hereditary spastic paraplegia 10 (IAGP)

hereditary spastic paraplegia 31 (EXP,IAGP,ISS)

Muscle Spasticity (IAGP)

paraplegia (IAGP)

polyneuropathy (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

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

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

4-hydroxyphenyl retinamide (ISO)

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

acrylamide (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP,ISO)

amitrole (ISO)

antirheumatic drug (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

benzo[b]fluoranthene (ISO)

benzo[e]pyrene (EXP)

bisphenol A (EXP,ISO)

butanal (EXP)

cadmium atom (EXP)

cadmium dichloride (EXP,ISO)

cantharidin (ISO)

carbon nanotube (ISO)

chrysene (ISO)

cyclosporin A (EXP)

dibenz[a,h]anthracene (ISO)

dibutyl phthalate (ISO)

dinophysistoxin 1 (EXP)

dioxygen (ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

epoxiconazole (ISO)

ethanol (ISO)

fenvalerate (ISO)

folic acid (ISO)

furan (ISO)

gentamycin (ISO)

hexane (ISO)

isoprenaline (ISO)

menadione (EXP)

methapyrilene (EXP)

methimazole (ISO)

methoxychlor (ISO)

methylseleninic acid (EXP)

N-Nitrosopyrrolidine (EXP)

nickel atom (EXP)

O-methyleugenol (EXP)

paracetamol (EXP,ISO)

pentanal (EXP)

phenobarbital (ISO)

potassium chromate (EXP)

pravastatin (ISO)

SB 431542 (EXP)

sodium arsenite (EXP)

sotorasib (EXP)

sulfadimethoxine (ISO)

sunitinib (EXP)

tetraphene (ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

trametinib (EXP)

trichloroethene (ISO)

trichostatin A (EXP)

triclosan (EXP)

triptonide (ISO)

uranium atom (EXP)

valproic acid (EXP)

vitamin E (EXP)

zaragozic acid A (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

endoplasmic reticulum tubular network organization (IBA,IMP)

protein insertion into membrane (IDA)

regulation of intracellular transport (ISO)

Cellular Component

cytoplasm (IDA)

cytoplasmic microtubule (IBA,IEA)

endoplasmic reticulum (IDA,IEA)

endoplasmic reticulum membrane (IBA,IEA)

endoplasmic reticulum tubular network (IBA,ISS)

membrane (IDA,IEA)

mitochondrial membrane (IEA)

mitochondrion (IEA)

plasma membrane (ISO)

Molecular Function

microtubule binding (IBA,IDA,IEA)

olfactory receptor binding (IBA,IEA,IMP)

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal motor nerve conduction velocity (IAGP)

Absent Achilles reflex (IAGP)

Ankle clonus (IAGP)

Arthrogryposis-like hand anomaly (IAGP)

Autosomal dominant inheritance (IAGP)

Autosomal recessive inheritance (IAGP)

Axonal degeneration (IAGP)

Babinski sign (IAGP)

Brisk reflexes (IAGP)

Bulbar signs (IAGP)

Childhood onset (IAGP)

Cold-induced hand cramps (IAGP)

Congenital onset (IAGP)

Craniofacial dystonia (IAGP)

Decreased motor nerve conduction velocity (IAGP)

Decreased patellar reflex (IAGP)

Developmental regression (IAGP)

Diaphragmatic eventration (IAGP)

Diaphragmatic paralysis (IAGP)

Difficulty running (IAGP)

Difficulty walking (IAGP)

Distal amyotrophy (IAGP)

Distal arthrogryposis (IAGP)

Distal lower limb muscle weakness (IAGP)

Distal muscle weakness (IAGP)

Distal sensory impairment (IAGP)

Dysarthria (IAGP)

Dysphagia (IAGP)

Early young adult onset (IAGP)

Fiber type grouping (IAGP)

First dorsal interossei muscle atrophy (IAGP)

First dorsal interossei muscle weakness (IAGP)

Foot dorsiflexor weakness (IAGP)

Frequent falls (IAGP)

Gait disturbance (IAGP)

Global developmental delay (IAGP)

Hammertoe (IAGP)

Hand muscle weakness (IAGP)

High palate (IAGP)

Hyperreflexia (IAGP)

Hyperreflexia in upper limbs (IAGP)

Hypertonia (IAGP)

Hyporeflexia (IAGP)

Hypotonia (IAGP)

Impaired proprioception (IAGP)

Impaired vibratory sensation (IAGP)

Juvenile onset (IAGP)

Lower limb hyperreflexia (IAGP)

Lower limb muscle weakness (IAGP)

Lower limb spasticity (IAGP)

Middle age onset (IAGP)

Motor polyneuropathy (IAGP)

Paradoxical respiration (IAGP)

Peripheral axonal neuropathy (IAGP)

Peripheral neuropathy (IAGP)

Peroneal muscle atrophy (IAGP)

Peroneal muscle weakness (IAGP)

Pes cavus (IAGP)

Pes valgus (IAGP)

Plantar flexion contracture (IAGP)

Polyneuropathy (IAGP)

Proximal lower limb amyotrophy (IAGP)

Proximal muscle weakness in lower limbs (IAGP)

Recurrent acute respiratory tract infection (IAGP)

Respiratory distress (IAGP)

Skeletal muscle atrophy (IAGP)

Spastic gait (IAGP)

Spastic paraplegia (IAGP)

Spastic tetraparesis (IAGP)

Spasticity (IAGP)

Talipes equinovarus (IAGP)

Thenar muscle atrophy (IAGP)

Thenar muscle weakness (IAGP)

Unsteady gait (IAGP)

Upper limb muscle weakness (IAGP)

Urinary urgency (IAGP)

Wrist drop (IAGP)

Young adult onset (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
4.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
5.	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.	Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.

Additional References at PubMed

PMID:7829101	PMID:14702039	PMID:14744259	PMID:15489334	PMID:15550249	PMID:15815621	PMID:16271481	PMID:16344560	PMID:16720576	PMID:16826527	PMID:17979178	PMID:18321925
PMID:18364116	PMID:18644145	PMID:19034539	PMID:19072839	PMID:19161151	PMID:19322201	PMID:19781397	PMID:20200447	PMID:20301682	PMID:20379614	PMID:20718791	PMID:21618648
PMID:21873635	PMID:22703882	PMID:23108492	PMID:23969831	PMID:24051375	PMID:24355597	PMID:24478229	PMID:24986827	PMID:26201691	PMID:26671083	PMID:28514442	PMID:29107646
PMID:29124833	PMID:29908077	PMID:30637453	PMID:30945288	PMID:31055810	PMID:32296183	PMID:33961781	PMID:34672954	PMID:35063084	PMID:36762613

Genomics

Comparative Map Data

REEP1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	86,213,993 - 86,338,083 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	86,213,993 - 86,338,083 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	86,441,116 - 86,565,206 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	86,294,633 - 86,418,288 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	86,352,779 - 86,476,435	NCBI
Celera	2	86,269,251 - 86,393,245 (-)	NCBI		Celera
Cytogenetic Map	2	p11.2	NCBI
HuRef	2	86,338,580 - 86,462,643 (-)	NCBI		HuRef
CHM1_1	2	86,370,561 - 86,495,314 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	2	86,216,087 - 86,340,099 (-)	NCBI		T2T-CHM13v2.0

Reep1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	6	71,684,413 - 71,787,694 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	6	71,684,545 - 71,787,694 (+)	Ensembl		GRCm39 Ensembl
GRCm38	6	71,707,429 - 71,810,710 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	6	71,707,561 - 71,810,710 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	6	71,657,854 - 71,760,696 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	6	71,637,369 - 71,740,211 (+)	NCBI		MGSCv36	mm8
Celera	6	73,791,587 - 73,894,394 (+)	NCBI		Celera
Cytogenetic Map	6	C1	NCBI
cM Map	6	32.2	NCBI

Reep1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	4	105,303,974 - 105,420,611 (+)	NCBI		GRCr8
mRatBN7.2	4	103,746,004 - 103,862,347 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	4	103,745,633 - 103,862,338 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	4	109,126,200 - 109,242,259 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	4	104,901,318 - 105,017,375 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	4	103,516,012 - 103,632,244 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	4	99,618,622 - 99,735,329 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	4	99,618,622 - 99,735,319 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	4	164,396,429 - 164,513,470 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	4	104,982,925 - 105,099,852 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	4	105,227,462 - 105,342,336 (+)	NCBI
Celera	4	92,903,130 - 93,018,649 (+)	NCBI		Celera
Cytogenetic Map	4	q32	NCBI

Reep1
(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_004955424	1,369,490 - 1,425,605 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955424	1,369,490 - 1,425,611 (+)	NCBI	ChiLan1.0	ChiLan1.0

REEP1
(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	12	40,044,484 - 40,168,054 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	2A	40,047,245 - 40,170,815 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2A	86,268,147 - 86,391,520 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	2A	87,814,041 - 87,881,687 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2A	87,814,047 - 87,936,984 (-)	Ensembl	panpan1.1		panPan2

REEP1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	17	38,807,217 - 38,908,434 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	17	38,807,014 - 38,906,196 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	17	38,493,572 - 38,594,217 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	17	39,540,817 - 39,641,510 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	17	39,540,187 - 39,642,151 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	17	38,706,876 - 38,807,834 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	17	38,743,145 - 38,843,963 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	17	39,129,124 - 39,230,115 (+)	NCBI		UU_Cfam_GSD_1.0

Reep1
(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_024406292	79,614,597 - 79,696,048 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936712	1,206,276 - 1,241,301 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936712	1,186,565 - 1,241,829 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

REEP1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	3	58,436,324 - 58,558,934 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	58,436,319 - 58,558,943 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	3	61,264,880 - 61,327,574 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

REEP1
(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	14	20,819,318 - 20,924,484 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	14	20,820,275 - 20,940,683 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	91,546,477 - 91,668,731 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Reep1
(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_004624749	16,933,576 - 17,043,753 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624749	16,933,575 - 17,042,017 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in REEP1
343 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001371279.1(REEP1):c.58G>C (p.Ala20Pro)	single nucleotide variant	Hereditary spastic paraplegia [RCV000516005]	Chr2:86282217 [GRCh38] Chr2:86509340 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.303+1_303+7delinsAC	indel	Spinal muscular atrophy, distal, autosomal recessive, 6 [RCV002280583]	Chr2:86254687..86254693 [GRCh38] Chr2:86481810..86481816 [GRCh37] Chr2:2p11.2	pathogenic\|uncertain significance
NM_001371279.1(REEP1):c.304-2A>G	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000789557]\|Neuronopathy, distal hereditary motor, type 5B [RCV000029244]	Chr2:86252072 [GRCh38] Chr2:86479195 [GRCh37] Chr2:2p11.2	pathogenic\|uncertain significance
NM_001371279.1(REEP1):c.512del (p.Pro171fs)	deletion	Hereditary spastic paraplegia 31 [RCV000001936]\|Hereditary spastic paraplegia [RCV001847562]	Chr2:86232708 [GRCh38] Chr2:86459831 [GRCh37] Chr2:2p11.2	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_001371279.1(REEP1):c.183-2A>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000001937]	Chr2:86254816 [GRCh38] Chr2:86481939 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.837G>T (p.Ser279=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000001938]\|Hereditary spastic paraplegia [RCV001847563]\|Inborn genetic diseases [RCV003258655]\|Neuronopathy, distal hereditary motor, type 5B [RCV001333150]\|REEP1-related condition [RCV003904794]\|not provided [RCV001703411]\|not specified [RCV000200803]	Chr2:86217057 [GRCh38] Chr2:86444180 [GRCh37] Chr2:2p11.2	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001371279.1(REEP1):c.59C>A (p.Ala20Glu)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000001939]\|Hereditary spastic paraplegia [RCV001847564]\|Spastic paraplegia [RCV001003951]\|not provided [RCV000713454]	Chr2:86282216 [GRCh38] Chr2:86509339 [GRCh37] Chr2:2p11.2	pathogenic\|likely pathogenic
NM_001371279.1(REEP1):c.337C>T (p.Arg113Ter)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000001940]\|Hereditary spastic paraplegia [RCV001847565]\|not provided [RCV002243614]	Chr2:86252037 [GRCh38] Chr2:86479160 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.200A>T (p.Glu67Val)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000641688]	Chr2:86254797 [GRCh38] Chr2:86481920 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.-50_-26dup	duplication	not provided [RCV000520719]	Chr2:86337535..86337536 [GRCh38] Chr2:86564658..86564659 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.194A>G (p.Tyr65Cys)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000554008]\|Hereditary spastic paraplegia [RCV001848943]	Chr2:86254803 [GRCh38] Chr2:86481926 [GRCh37] Chr2:2p11.2	uncertain significance
GRCh38/hg38 2p11.2(chr2:86026429-86242094)x4	copy number gain	See cases [RCV000052665]	Chr2:86026429..86242094 [GRCh38] Chr2:86253552..86469217 [GRCh37] Chr2:86107063..86322728 [NCBI36] Chr2:2p11.2	uncertain significance
GRCh38/hg38 2p11.2(chr2:86073968-86251223)x3	copy number gain	See cases [RCV000052666]	Chr2:86073968..86251223 [GRCh38] Chr2:86301091..86478346 [GRCh37] Chr2:86154602..86331857 [NCBI36] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.285G>A (p.Thr95=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000576773]\|Hereditary spastic paraplegia [RCV001847715]\|Neuronopathy, distal hereditary motor, type 5B [RCV001795180]\|not provided [RCV001811975]\|not specified [RCV000118136]	Chr2:86254712 [GRCh38] Chr2:86481835 [GRCh37] Chr2:2p11.2	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001371279.1(REEP1):c.784-19T>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002055775]\|not specified [RCV000127759]	Chr2:86217129 [GRCh38] Chr2:86444252 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.206A>C (p.Lys69Thr)	single nucleotide variant	Neuronopathy, distal hereditary motor, type 5B [RCV001331266]	Chr2:86254791 [GRCh38] Chr2:86481914 [GRCh37] Chr2:2p11.2	uncertain significance
GRCh38/hg38 2p11.2(chr2:86078247-86282144)x3	copy number gain	See cases [RCV000135364]	Chr2:86078247..86282144 [GRCh38] Chr2:86305370..86509267 [GRCh37] Chr2:86158881..86362778 [NCBI36] Chr2:2p11.2	uncertain significance
GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	copy number gain	See cases [RCV000134786]	Chr2:77025216..90282666 [GRCh38] Chr2:77252342..91619262 [GRCh37] Chr2:77105850..90982989 [NCBI36] Chr2:2p12-11.2	pathogenic
GRCh38/hg38 2p16.3-11.2(chr2:47620388-86702722)x3	copy number gain	See cases [RCV000137586]	Chr2:47620388..86702722 [GRCh38] Chr2:47847527..86929845 [GRCh37] Chr2:47701031..86783356 [NCBI36] Chr2:2p16.3-11.2	uncertain significance
GRCh38/hg38 2p11.2(chr2:86062007-86282203)x3	copy number gain	See cases [RCV000139214]	Chr2:86062007..86282203 [GRCh38] Chr2:86289130..86509326 [GRCh37] Chr2:86142641..86362837 [NCBI36] Chr2:2p11.2	uncertain significance
GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	copy number loss	See cases [RCV000141948]	Chr2:85014686..88826619 [GRCh38] Chr2:85241809..89126132 [GRCh37] Chr2:85095320..88907247 [NCBI36] Chr2:2p11.2	pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	copy number gain	See cases [RCV000141494]	Chr2:7495123..87705899 [GRCh38] Chr2:7635254..88005418 [GRCh37] Chr2:7552705..87786533 [NCBI36] Chr2:2p25.1-11.2	benign
GRCh38/hg38 2p11.2(chr2:86062007-86282203)x4	copy number gain	See cases [RCV000142984]	Chr2:86062007..86282203 [GRCh38] Chr2:86289130..86509326 [GRCh37] Chr2:86142641..86362837 [NCBI36] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.415A>T (p.Lys139Ter)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000167976]	Chr2:86251959 [GRCh38] Chr2:86479082 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.*906C>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000262189]	Chr2:86216133 [GRCh38] Chr2:86443256 [GRCh37] Chr2:2p11.2	benign\|likely benign
NM_022912.2(REEP1):c.-35_-34insAGCCG	insertion	not specified [RCV000200639]	Chr2:86337544..86337545 [GRCh38] Chr2:86564667..86564668 [GRCh37] Chr2:2p11.2	benign
NM_001164730.2(REEP1):c.53+17G>T	single nucleotide variant	not provided [RCV003736634]\|not specified [RCV000197069]	Chr2:86338007 [GRCh38] Chr2:86565130 [GRCh37] Chr2:2p11.2	benign
NM_022912.2(REEP1):c.284C>T (p.Thr95Met)	single nucleotide variant	not specified [RCV000197257]	Chr2:86254713 [GRCh38] Chr2:86481836 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.396G>A (p.Ala132=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001489571]\|Inborn genetic diseases [RCV002354568]\|not provided [RCV000197628]	Chr2:86251978 [GRCh38] Chr2:86479101 [GRCh37] Chr2:2p11.2	likely pathogenic\|likely benign\|uncertain significance
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000986787]\|Inborn genetic diseases [RCV003165456]\|not provided [RCV000415754]	Chr2:86217050 [GRCh38] Chr2:86444173 [GRCh37] Chr2:2p11.2	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001371279.1(REEP1):c.547G>A (p.Gly183Ser)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001228818]\|Inborn genetic diseases [RCV002345708]	Chr2:86232673 [GRCh38] Chr2:86459796 [GRCh37] Chr2:2p11.2	likely benign\|uncertain significance
NM_022912.2(REEP1):c.303G>T (p.Lys101Asn)	single nucleotide variant	not provided [RCV000199135]	Chr2:86254694 [GRCh38] Chr2:86481817 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.10T>G (p.Trp4Gly)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000641687]\|not provided [RCV000195547]	Chr2:86337501 [GRCh38] Chr2:86564624 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.582C>T (p.Ser194=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000383982]\|Inborn genetic diseases [RCV002356364]\|not specified [RCV000354302]	Chr2:86232638 [GRCh38] Chr2:86459761 [GRCh37] Chr2:2p11.2	benign\|likely benign
NM_001371279.1(REEP1):c.424G>C (p.Gly142Arg)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000204692]	Chr2:86232796 [GRCh38] Chr2:86459919 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.486C>T (p.Asp162=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000203687]\|Hereditary spastic paraplegia [RCV001847919]\|Inborn genetic diseases [RCV002336549]\|not provided [RCV001705164]	Chr2:86232734 [GRCh38] Chr2:86459857 [GRCh37] Chr2:2p11.2	benign\|likely benign
NM_001371279.1(REEP1):c.595+1G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000210477]	Chr2:86232624 [GRCh38] Chr2:86459747 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.529C>T (p.Arg177Trp)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001086893]\|Inborn genetic diseases [RCV002347923]\|REEP1-related condition [RCV003939905]\|not provided [RCV000236570]	Chr2:86232691 [GRCh38] Chr2:86459814 [GRCh37] Chr2:2p11.2	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001371279.1(REEP1):c.264C>G (p.Tyr88Ter)	single nucleotide variant	not provided [RCV000236987]	Chr2:86254733 [GRCh38] Chr2:86481856 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.793A>G (p.Arg265Gly)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000790184]\|Hereditary spastic paraplegia 31 [RCV000681482]\|Spasticity [RCV000657159]\|not provided [RCV003321573]	Chr2:86217101 [GRCh38] Chr2:86444224 [GRCh37] Chr2:2p11.2	pathogenic\|uncertain significance
GRCh37/hg19 2p11.2(chr2:86298862-86509326)x3	copy number gain	See cases [RCV000239871]	Chr2:86298862..86509326 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*2513G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000284923]\|not provided [RCV001556419]	Chr2:86214526 [GRCh38] Chr2:86441649 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.*94T>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000269579]\|Hereditary spastic paraplegia [RCV001848694]\|not provided [RCV000713451]	Chr2:86216945 [GRCh38] Chr2:86444068 [GRCh37] Chr2:2p11.2	benign\|likely benign\|uncertain significance
NM_001371279.1(REEP1):c.784-17T>G	single nucleotide variant	not specified [RCV000242509]	Chr2:86217127 [GRCh38] Chr2:86444250 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.*630G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000265997]\|not provided [RCV001594971]	Chr2:86216409 [GRCh38] Chr2:86443532 [GRCh37] Chr2:2p11.2	benign\|likely benign
GRCh37/hg19 2p11.2(chr2:86441169-86509452)x3	copy number gain	See cases [RCV000240227]	Chr2:86441169..86509452 [GRCh37] Chr2:2p11.2	pathogenic
GRCh37/hg19 2p11.2(chr2:86269067-86509326)x3	copy number gain	See cases [RCV000240383]	Chr2:86269067..86509326 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*2766T>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000373629]	Chr2:86214273 [GRCh38] Chr2:86441396 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.*1257C>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000398181]\|not provided [RCV001653631]	Chr2:86215782 [GRCh38] Chr2:86442905 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.*737T>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000301169]\|not provided [RCV001660702]	Chr2:86216302 [GRCh38] Chr2:86443425 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.*954G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000354655]\|not provided [RCV001566114]	Chr2:86216085 [GRCh38] Chr2:86443208 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.*2825A>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000316636]\|not provided [RCV001788202]	Chr2:86214214 [GRCh38] Chr2:86441337 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.*165del	deletion	Spastic paraplegia, autosomal dominant [RCV000380401]\|not provided [RCV001552720]	Chr2:86216874 [GRCh38] Chr2:86443997 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.*1415G>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000289121]\|not provided [RCV001552367]	Chr2:86215624 [GRCh38] Chr2:86442747 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.*2579T>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000338662]	Chr2:86214460 [GRCh38] Chr2:86441583 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.*663G>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000358372]	Chr2:86216376 [GRCh38] Chr2:86443499 [GRCh37] Chr2:2p11.2	benign\|likely benign
NM_001371279.1(REEP1):c.*2015del	deletion	Spastic paraplegia, autosomal dominant [RCV000320297]	Chr2:86215024 [GRCh38] Chr2:86442147 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.*2380C>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000306877]	Chr2:86214659 [GRCh38] Chr2:86441782 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*2485G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000341997]	Chr2:86214554 [GRCh38] Chr2:86441677 [GRCh37] Chr2:2p11.2	benign\|likely benign
NM_001371279.1(REEP1):c.*1614G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000342941]	Chr2:86215425 [GRCh38] Chr2:86442548 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.*2310C>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000363857]	Chr2:86214729 [GRCh38] Chr2:86441852 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*2859T>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000388753]\|not provided [RCV001653629]	Chr2:86214180 [GRCh38] Chr2:86441303 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.*1325T>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000346223]	Chr2:86215714 [GRCh38] Chr2:86442837 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.*2131G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000367467]\|not provided [RCV001799655]	Chr2:86214908 [GRCh38] Chr2:86442031 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.*2189C>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000310606]	Chr2:86214850 [GRCh38] Chr2:86441973 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*2995T>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000329599]\|not provided [RCV001558480]	Chr2:86214044 [GRCh38] Chr2:86441167 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.417+15G>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000348308]	Chr2:86251942 [GRCh38] Chr2:86479065 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.2824_2827dup	duplication	Spastic paraplegia, autosomal dominant [RCV000296783]\|not provided [RCV001672586]	Chr2:86214211..86214212 [GRCh38] Chr2:86441334..86441335 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.*1217A>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000311298]	Chr2:86215822 [GRCh38] Chr2:86442945 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.*2457G>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000395031]\|not provided [RCV001683346]	Chr2:86214582 [GRCh38] Chr2:86441705 [GRCh37] Chr2:2p11.2	benign\|likely benign
NM_001371279.1(REEP1):c.*2200C>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000395033]	Chr2:86214839 [GRCh38] Chr2:86441962 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*965G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000297528]\|not provided [RCV002253383]	Chr2:86216074 [GRCh38] Chr2:86443197 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.*2733A>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000281303]	Chr2:86214306 [GRCh38] Chr2:86441429 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.2016_2017insA	insertion	Spastic paraplegia, autosomal dominant [RCV000259577]	Chr2:86215022..86215023 [GRCh38] Chr2:86442145..86442146 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.2014_2016del	deletion	Spastic paraplegia, autosomal dominant [RCV000281639]	Chr2:86215023..86215025 [GRCh38] Chr2:86442146..86442148 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*2049dup	duplication	Spastic paraplegia, autosomal dominant [RCV000332274]\|not provided [RCV001653630]	Chr2:86214989..86214990 [GRCh38] Chr2:86442112..86442113 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.2050_2051insT	insertion	Spastic paraplegia, autosomal dominant [RCV000275325]	Chr2:86214988..86214989 [GRCh38] Chr2:86442111..86442112 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.518C>T (p.Pro173Leu)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000531522]\|Inborn genetic diseases [RCV002341332]\|REEP1-related condition [RCV003892136]\|not specified [RCV000611545]	Chr2:86232702 [GRCh38] Chr2:86459825 [GRCh37] Chr2:2p11.2	likely benign\|uncertain significance
NM_001371279.1(REEP1):c.198T>C (p.Tyr66=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001857859]\|Inborn genetic diseases [RCV002420295]\|not provided [RCV000514797]	Chr2:86254799 [GRCh38] Chr2:86481922 [GRCh37] Chr2:2p11.2	likely benign\|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3	copy number gain	not provided [RCV000752802]	Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_001371279.1(REEP1):c.105+1G>A	single nucleotide variant	not provided [RCV000488112]	Chr2:86282169 [GRCh38] Chr2:86509292 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.303+2T>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001271098]	Chr2:86254692 [GRCh38] Chr2:86481815 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.*2016del	deletion	Spastic paraplegia, autosomal dominant [RCV000317188]	Chr2:86215023 [GRCh38] Chr2:86442146 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*1519T>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000402640]	Chr2:86215520 [GRCh38] Chr2:86442643 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.149C>T (p.Thr50Ile)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000294516]	Chr2:86263998 [GRCh38] Chr2:86491121 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*2558A>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000403984]	Chr2:86214481 [GRCh38] Chr2:86441604 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*1163A>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000368340]	Chr2:86215876 [GRCh38] Chr2:86442999 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*1853A>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000285619]	Chr2:86215186 [GRCh38] Chr2:86442309 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*2022del	deletion	Spastic paraplegia, autosomal dominant [RCV000370530]	Chr2:86215017 [GRCh38] Chr2:86442140 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.-44AGCCG[3]	microsatellite	Spastic paraplegia, autosomal dominant [RCV000352797]\|not specified [RCV000200639]	Chr2:86337544..86337545 [GRCh38] Chr2:86564667..86564668 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.*389CA[1]	microsatellite	Spastic paraplegia, autosomal dominant [RCV000323376]	Chr2:86216647..86216648 [GRCh38] Chr2:86443770..86443771 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.2015_2016del	deletion	Spastic paraplegia, autosomal dominant [RCV000374168]	Chr2:86215023..86215024 [GRCh38] Chr2:86442146..86442147 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*1992del	deletion	Spastic paraplegia, autosomal dominant [RCV000377197]	Chr2:86215047 [GRCh38] Chr2:86442170 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*1020CA[2]	microsatellite	Spastic paraplegia, autosomal dominant [RCV000398186]	Chr2:86216014..86216015 [GRCh38] Chr2:86443137..86443138 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.542A>C (p.Lys181Thr)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000641690]	Chr2:86232678 [GRCh38] Chr2:86459801 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.322G>A (p.Val108Ile)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000641686]	Chr2:86252052 [GRCh38] Chr2:86479175 [GRCh37] Chr2:2p11.2	uncertain significance
NC_000002.12:g.(?_86263945)_(86264061_?)del	deletion	Hereditary spastic paraplegia 31 [RCV000533068]	Chr2:86263945..86264061 [GRCh38] Chr2:86491068..86491184 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.49C>A (p.Leu17Ile)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000557746]	Chr2:86282226 [GRCh38] Chr2:86509349 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.231G>A (p.Leu77=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001084794]\|not provided [RCV000732935]	Chr2:86254766 [GRCh38] Chr2:86481889 [GRCh37] Chr2:2p11.2	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001371279.1(REEP1):c.408T>A (p.Ala136=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000641689]\|Inborn genetic diseases [RCV002323628]\|not provided [RCV001662386]\|not specified [RCV000437729]	Chr2:86251966 [GRCh38] Chr2:86479089 [GRCh37] Chr2:2p11.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001371279.1(REEP1):c.784-16C>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002061487]\|not specified [RCV000421375]	Chr2:86217126 [GRCh38] Chr2:86444249 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.156G>A (p.Glu52=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001485591]\|Inborn genetic diseases [RCV002402161]\|not specified [RCV000442570]	Chr2:86263991 [GRCh38] Chr2:86491114 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.270G>A (p.Lys90=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002522553]\|not specified [RCV000439161]	Chr2:86254727 [GRCh38] Chr2:86481850 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.-15G>A	single nucleotide variant	not provided [RCV001712199]	Chr2:86337525 [GRCh38] Chr2:86564648 [GRCh37] Chr2:2p11.2	benign\|likely benign
NM_001371279.1(REEP1):c.483A>G (p.Gly161=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000547035]\|Inborn genetic diseases [RCV002339004]\|not provided [RCV000443019]	Chr2:86232737 [GRCh38] Chr2:86459860 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.182+16G>T	single nucleotide variant	not specified [RCV000435912]	Chr2:86263949 [GRCh38] Chr2:86491072 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.32+14T>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002522376]\|not specified [RCV000439444]	Chr2:86337465 [GRCh38] Chr2:86564588 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.32+19C>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002061655]\|not specified [RCV000422193]	Chr2:86337460 [GRCh38] Chr2:86564583 [GRCh37] Chr2:2p11.2	benign\|likely benign
NM_001371279.1(REEP1):c.381C>T (p.Asn127=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000532314]\|Inborn genetic diseases [RCV002356536]\|not specified [RCV000429413]	Chr2:86251993 [GRCh38] Chr2:86479116 [GRCh37] Chr2:2p11.2	benign\|likely benign
GRCh37/hg19 2p11.2(chr2:86298862-86509267)x3	copy number gain	See cases [RCV000447699]	Chr2:86298862..86509267 [GRCh37] Chr2:2p11.2	uncertain significance
GRCh37/hg19 2p15-11.2(chr2:62245236-86978895)x3	copy number gain	See cases [RCV000448688]	Chr2:62245236..86978895 [GRCh37] Chr2:2p15-11.2	pathogenic
NM_001371279.1(REEP1):c.56C>G (p.Pro19Arg)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000466973]	Chr2:86282219 [GRCh38] Chr2:86509342 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.538_553del (p.Gly180fs)	deletion	Hereditary spastic paraplegia 31 [RCV000460326]\|not provided [RCV000498050]	Chr2:86232667..86232682 [GRCh38] Chr2:86459790..86459805 [GRCh37] Chr2:2p11.2	likely pathogenic
NC_000002.11:g.(?_86441116)_(86509365_?)dup	duplication	Hereditary spastic paraplegia 31 [RCV000471787]	Chr2:86213993..86282242 [GRCh38] Chr2:86441116..86509365 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.113G>A (p.Trp38Ter)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000457155]\|Hereditary spastic paraplegia [RCV001848818]	Chr2:86264034 [GRCh38] Chr2:86491157 [GRCh37] Chr2:2p11.2	pathogenic\|likely pathogenic
NM_001371279.1(REEP1):c.166G>A (p.Asp56Asn)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000465053]	Chr2:86263981 [GRCh38] Chr2:86491104 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.-35_-34delinsTT	indel	not provided [RCV001722403]	Chr2:86337544..86337545 [GRCh38] Chr2:86564667..86564668 [GRCh37] Chr2:2p11.2	likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	copy number gain	See cases [RCV000512056]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_001371279.1(REEP1):c.440G>T (p.Arg147Ile)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000473114]	Chr2:86232780 [GRCh38] Chr2:86459903 [GRCh37] Chr2:2p11.2	uncertain significance
GRCh37/hg19 2p11.2(chr2:86285942-86516984)x3	copy number gain	See cases [RCV000511574]	Chr2:86285942..86516984 [GRCh37] Chr2:2p11.2	conflicting data from submitters
GRCh37/hg19 2p11.2(chr2:86286440-86505779)x3	copy number gain	See cases [RCV000511435]	Chr2:86286440..86505779 [GRCh37] Chr2:2p11.2	uncertain significance
GRCh37/hg19 2p11.2(chr2:86285942-86519246)x3	copy number gain	See cases [RCV000511951]	Chr2:86285942..86519246 [GRCh37] Chr2:2p11.2	uncertain significance
GRCh37/hg19 2p11.2(chr2:86285942-86506131)x3	copy number gain	See cases [RCV000511237]	Chr2:86285942..86506131 [GRCh37] Chr2:2p11.2	likely benign
GRCh37/hg19 2p11.2(chr2:86285942-86519023)x4	copy number gain	See cases [RCV000510988]	Chr2:86285942..86519023 [GRCh37] Chr2:2p11.2	uncertain significance
GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	copy number loss	See cases [RCV000510763]	Chr2:74365484..89129064 [GRCh37] Chr2:2p13.1-11.2	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	copy number gain	See cases [RCV000511212]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_001371279.1(REEP1):c.304-2A>C	single nucleotide variant	not provided [RCV003312481]	Chr2:86252072 [GRCh38] Chr2:86479195 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.583G>T (p.Ala195Ser)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000641683]	Chr2:86232637 [GRCh38] Chr2:86459760 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.363C>T (p.Phe121=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001449171]\|Inborn genetic diseases [RCV002350458]\|not specified [RCV000612251]	Chr2:86252011 [GRCh38] Chr2:86479134 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.784-18_784-15del	deletion	Hereditary spastic paraplegia 31 [RCV002062906]\|not provided [RCV001811095]\|not specified [RCV000613579]	Chr2:86217125..86217128 [GRCh38] Chr2:86444248..86444251 [GRCh37] Chr2:2p11.2	benign\|likely benign
NM_001371279.1(REEP1):c.106-7T>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001444310]\|not provided [RCV000641692]	Chr2:86264048 [GRCh38] Chr2:86491171 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.176T>C (p.Leu59Pro)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000641685]	Chr2:86263971 [GRCh38] Chr2:86491094 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.400G>A (p.Val134Met)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000641681]	Chr2:86251974 [GRCh38] Chr2:86479097 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.418-13G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003600386]\|not specified [RCV000611272]	Chr2:86232815 [GRCh38] Chr2:86459938 [GRCh37] Chr2:2p11.2	likely benign
GRCh37/hg19 2p11.2(chr2:86285942-86506132)x4	copy number gain	See cases [RCV000512549]	Chr2:86285942..86506132 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.*4A>G	single nucleotide variant	not provided [RCV000512989]	Chr2:86217035 [GRCh38] Chr2:86444158 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.353T>G (p.Leu118Arg)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000641691]	Chr2:86252021 [GRCh38] Chr2:86479144 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.60G>A (p.Ala20=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000641693]\|Inborn genetic diseases [RCV002358821]	Chr2:86282215 [GRCh38] Chr2:86509338 [GRCh37] Chr2:2p11.2	benign\|likely benign
NM_001371279.1(REEP1):c.287T>C (p.Leu96Pro)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000641684]\|Inborn genetic diseases [RCV003162889]	Chr2:86254710 [GRCh38] Chr2:86481833 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.392C>T (p.Thr131Ile)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000641682]	Chr2:86251982 [GRCh38] Chr2:86479105 [GRCh37] Chr2:2p11.2	uncertain significance
GRCh37/hg19 2p11.2(chr2:86286136-86516984)x3	copy number gain	See cases [RCV000512482]	Chr2:86286136..86516984 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.136G>A (p.Ala46Thr)	single nucleotide variant	not provided [RCV000713452]	Chr2:86264011 [GRCh38] Chr2:86491134 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.521G>C (p.Gly174Ala)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002532954]\|Inborn genetic diseases [RCV002334404]\|not provided [RCV000713453]	Chr2:86232699 [GRCh38] Chr2:86459822 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.489C>T (p.Gly163=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000684886]\|Inborn genetic diseases [RCV002331316]	Chr2:86232731 [GRCh38] Chr2:86459854 [GRCh37] Chr2:2p11.2	likely benign\|uncertain significance
Single allele	deletion	not provided [RCV000714264]	Chr2:40608411..146900718 [GRCh37] Chr2:2p22.1-q22.3	likely pathogenic
GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	copy number loss	not provided [RCV000682167]	Chr2:74527522..89125488 [GRCh37] Chr2:2p13.1-11.2	pathogenic
NM_001371279.1(REEP1):c.289T>C (p.Ser97Pro)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000701951]	Chr2:86254708 [GRCh38] Chr2:86481831 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.445C>T (p.Arg149Trp)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000699719]\|Spastic paraplegia [RCV001391477]	Chr2:86232775 [GRCh38] Chr2:86459898 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.373G>A (p.Gly125Ser)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000686564]	Chr2:86252001 [GRCh38] Chr2:86479124 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.391A>G (p.Thr131Ala)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000698241]	Chr2:86251983 [GRCh38] Chr2:86479106 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.371G>A (p.Arg124Gln)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000701587]\|Inborn genetic diseases [RCV002343537]	Chr2:86252003 [GRCh38] Chr2:86479126 [GRCh37] Chr2:2p11.2	likely benign\|uncertain significance
NM_001371279.1(REEP1):c.495del (p.Ala166fs)	deletion	Hereditary spastic paraplegia 31 [RCV000703294]	Chr2:86232725 [GRCh38] Chr2:86459848 [GRCh37] Chr2:2p11.2	pathogenic\|likely pathogenic
NC_000002.12:g.(?_86217019)_(86217130_?)del	deletion	Hereditary spastic paraplegia 31 [RCV000707797]	Chr2:86217019..86217130 [GRCh38] Chr2:86444142..86444253 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.540C>T (p.Gly180=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000689523]	Chr2:86232680 [GRCh38] Chr2:86459803 [GRCh37] Chr2:2p11.2	likely benign\|uncertain significance
NM_001164730.2(REEP1):c.53+328C>G	single nucleotide variant	not provided [RCV001546291]	Chr2:86337696 [GRCh38] Chr2:86564819 [GRCh37] Chr2:2p11.2	likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3	copy number gain	not provided [RCV000752804]	Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p11.2(chr2:86292656-86498780)x3	copy number gain	not provided [RCV000740515]	Chr2:86292656..86498780 [GRCh37] Chr2:2p11.2	benign
GRCh37/hg19 2p11.2(chr2:86292656-86508961)x3	copy number gain	not provided [RCV000740516]	Chr2:86292656..86508961 [GRCh37] Chr2:2p11.2	benign
GRCh37/hg19 2p11.2(chr2:86296566-86509501)x3	copy number gain	not provided [RCV000740517]	Chr2:86296566..86509501 [GRCh37] Chr2:2p11.2	benign
GRCh37/hg19 2p11.2(chr2:86502663-87430727)x1	copy number loss	not provided [RCV000740518]	Chr2:86502663..87430727 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.106-81G>A	single nucleotide variant	not provided [RCV001534002]	Chr2:86264122 [GRCh38] Chr2:86491245 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.595+62C>T	single nucleotide variant	not provided [RCV001572435]	Chr2:86232563 [GRCh38] Chr2:86459686 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.435G>A (p.Ser145=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001454606]	Chr2:86232785 [GRCh38] Chr2:86459908 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.791del (p.Pro264fs)	deletion	Hereditary spastic paraplegia 31 [RCV000754868]	Chr2:86217103 [GRCh38] Chr2:86444226 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.182G>A (p.Trp61Ter)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001855928]\|not provided [RCV000760593]	Chr2:86263965 [GRCh38] Chr2:86491088 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.341G>A (p.Ser114Asn)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001043828]	Chr2:86252033 [GRCh38] Chr2:86479156 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.595+155C>T	single nucleotide variant	not provided [RCV001567369]	Chr2:86232470 [GRCh38] Chr2:86459593 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.449G>A (p.Ser150Asn)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001039769]\|Inborn genetic diseases [RCV002327269]	Chr2:86232771 [GRCh38] Chr2:86459894 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.353T>C (p.Leu118Pro)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001060595]	Chr2:86252021 [GRCh38] Chr2:86479144 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.789G>A (p.Pro263=)	single nucleotide variant	Polyneuropathy [RCV000856699]\|not provided [RCV001508448]	Chr2:86217105 [GRCh38] Chr2:86444228 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.183-13TC[6]	microsatellite	Hereditary spastic paraplegia 31 [RCV001433275]	Chr2:86254817..86254818 [GRCh38] Chr2:86481940..86481941 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.240C>T (p.Tyr80=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002064571]	Chr2:86254757 [GRCh38] Chr2:86481880 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.105+214A>G	single nucleotide variant	not provided [RCV000828108]	Chr2:86281956 [GRCh38] Chr2:86509079 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.33-2A>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000793389]\|Spastic paraplegia [RCV001003952]	Chr2:86282244 [GRCh38] Chr2:86509367 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.76G>A (p.Ala26Thr)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000823273]\|not provided [RCV002269321]	Chr2:86282199 [GRCh38] Chr2:86509322 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.417+211T>G	single nucleotide variant	not provided [RCV000828111]	Chr2:86251746 [GRCh38] Chr2:86478869 [GRCh37] Chr2:2p11.2	benign
NM_022912.2(REEP1):c.-834A>G	single nucleotide variant	not provided [RCV000836129]	Chr2:86338344 [GRCh38] Chr2:86565467 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.105+191G>A	single nucleotide variant	not provided [RCV000836130]	Chr2:86281979 [GRCh38] Chr2:86509102 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.561G>A (p.Met187Ile)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000799896]	Chr2:86232659 [GRCh38] Chr2:86459782 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.32+244G>T	single nucleotide variant	not provided [RCV000833434]	Chr2:86337235 [GRCh38] Chr2:86564358 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.106-170C>A	single nucleotide variant	not provided [RCV000836824]	Chr2:86264211 [GRCh38] Chr2:86491334 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.417+178C>T	single nucleotide variant	not provided [RCV000828109]	Chr2:86251779 [GRCh38] Chr2:86478902 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.515del (p.Pro172fs)	deletion	Hereditary spastic paraplegia 31 [RCV000808899]	Chr2:86232705 [GRCh38] Chr2:86459828 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.843C>T (p.Thr281=)	single nucleotide variant	REEP1-related condition [RCV003928650]\|not provided [RCV000997182]	Chr2:86217051 [GRCh38] Chr2:86444174 [GRCh37] Chr2:2p11.2	likely benign\|uncertain significance
NC_000002.12:g.(?_86337469)_(86337520_?)del	deletion	Hereditary spastic paraplegia 31 [RCV000809985]	Chr2:86337469..86337520 [GRCh38] Chr2:86564592..86564643 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.*1987G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001137571]	Chr2:86215052 [GRCh38] Chr2:86442175 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.*1733T>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001137573]	Chr2:86215306 [GRCh38] Chr2:86442429 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.103T>A (p.Tyr35Asn)	single nucleotide variant	Charcot-Marie-Tooth disease [RCV000790185]\|Hereditary spastic paraplegia 31 [RCV001352073]	Chr2:86282172 [GRCh38] Chr2:86509295 [GRCh37] Chr2:2p11.2	uncertain significance
NC_000002.11:g.(?_86444152)_(86509375_?)dup	duplication	Hereditary spastic paraplegia 31 [RCV000797486]	Chr2:86217029..86282252 [GRCh38] Chr2:86444152..86509375 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.116T>G (p.Met39Arg)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV000811126]\|not provided [RCV000993057]	Chr2:86264031 [GRCh38] Chr2:86491154 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.32+112G>T	single nucleotide variant	not provided [RCV000832758]	Chr2:86337367 [GRCh38] Chr2:86564490 [GRCh37] Chr2:2p11.2	benign
NC_000002.12:g.(?_86217029)_(86232812_?)del	deletion	Hereditary spastic paraplegia 31 [RCV001031211]	Chr2:86444152..86459935 [GRCh37] Chr2:2p11.2	likely pathogenic
GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1	copy number loss	not provided [RCV000846587]	Chr2:77907114..87330965 [GRCh37] Chr2:2p12-11.2	pathogenic
NM_001371279.1(REEP1):c.2T>C (p.Met1Thr)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001210927]\|not provided [RCV001268396]	Chr2:86337509 [GRCh38] Chr2:86564632 [GRCh37] Chr2:2p11.2	pathogenic\|likely pathogenic
NM_001371279.1(REEP1):c.418-3C>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001230094]	Chr2:86232805 [GRCh38] Chr2:86459928 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.32+5G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001218464]	Chr2:86337474 [GRCh38] Chr2:86564597 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.250_253delinsCTCT (p.Ser84_Ser85delinsLeuCys)	indel	Hereditary spastic paraplegia 31 [RCV001247121]	Chr2:86254744..86254747 [GRCh38] Chr2:86481867..86481870 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*509T>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001142431]	Chr2:86216530 [GRCh38] Chr2:86443653 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.379A>G (p.Asn127Asp)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001139904]	Chr2:86251995 [GRCh38] Chr2:86479118 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*2784G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001140460]	Chr2:86214255 [GRCh38] Chr2:86441378 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.*1702C>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001137574]	Chr2:86215337 [GRCh38] Chr2:86442460 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.182+143T>A	single nucleotide variant	not provided [RCV001657476]	Chr2:86263822 [GRCh38] Chr2:86490945 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.*2049del	deletion	not provided [RCV001551372]	Chr2:86214990 [GRCh38] Chr2:86442113 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.182+221C>T	single nucleotide variant	not provided [RCV001565918]	Chr2:86263744 [GRCh38] Chr2:86490867 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.*1526A>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001139802]	Chr2:86215513 [GRCh38] Chr2:86442636 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.355G>T (p.Val119Leu)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001214308]	Chr2:86252019 [GRCh38] Chr2:86479142 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*1119G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001140575]	Chr2:86215920 [GRCh38] Chr2:86443043 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.105+78T>C	single nucleotide variant	not provided [RCV001609277]	Chr2:86282092 [GRCh38] Chr2:86509215 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.195T>A (p.Tyr65Ter)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001224005]	Chr2:86254802 [GRCh38] Chr2:86481925 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.*658C>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001142430]	Chr2:86216381 [GRCh38] Chr2:86443504 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.345C>A (p.Tyr115Ter)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001047463]	Chr2:86252029 [GRCh38] Chr2:86479152 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.301A>T (p.Lys101Ter)	single nucleotide variant	not provided [RCV001730194]	Chr2:86254696 [GRCh38] Chr2:86481819 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.247G>C (p.Gly83Arg)	single nucleotide variant	not provided [RCV001730317]	Chr2:86254750 [GRCh38] Chr2:86481873 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.32+198G>A	single nucleotide variant	not provided [RCV001560087]	Chr2:86337281 [GRCh38] Chr2:86564404 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.417+100A>G	single nucleotide variant	not provided [RCV001717986]	Chr2:86251857 [GRCh38] Chr2:86478980 [GRCh37] Chr2:2p11.2	benign
NC_000002.12:g.86338295TCT[1]	microsatellite	not provided [RCV001546871]	Chr2:86338293..86338295 [GRCh38] Chr2:86565416..86565418 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.33-136A>G	single nucleotide variant	not provided [RCV001541100]	Chr2:86282378 [GRCh38] Chr2:86509501 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.304-94C>A	single nucleotide variant	not provided [RCV001619575]	Chr2:86252164 [GRCh38] Chr2:86479287 [GRCh37] Chr2:2p11.2	benign
NM_001164730.2(REEP1):c.53+323GCC[8]	microsatellite	not provided [RCV001592290]	Chr2:86337683..86337684 [GRCh38] Chr2:86564806..86564807 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.182+45del	deletion	not provided [RCV001716843]	Chr2:86263920 [GRCh38] Chr2:86491043 [GRCh37] Chr2:2p11.2	benign
GRCh37/hg19 2p11.2(chr2:86286478-86516984)x3	copy number gain	not provided [RCV001005292]	Chr2:86286478..86516984 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.32+140G>C	single nucleotide variant	not provided [RCV001637544]	Chr2:86337339 [GRCh38] Chr2:86564462 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.33-23A>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001794501]\|Neuronopathy, distal hereditary motor, type 5B [RCV001794502]\|not provided [RCV001715629]	Chr2:86282265 [GRCh38] Chr2:86509388 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.*2434G>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001142317]	Chr2:86214605 [GRCh38] Chr2:86441728 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*864T>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001142428]	Chr2:86216175 [GRCh38] Chr2:86443298 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*1435G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001139803]	Chr2:86215604 [GRCh38] Chr2:86442727 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*1533G>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001139801]	Chr2:86215506 [GRCh38] Chr2:86442629 [GRCh37] Chr2:2p11.2	uncertain significance
NC_000002.12:g.(?_86251947)_(86254824_?)del	deletion	Hereditary spastic paraplegia 31 [RCV001033631]	Chr2:86479070..86481947 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.33-236A>G	single nucleotide variant	not provided [RCV001714515]	Chr2:86282478 [GRCh38] Chr2:86509601 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.67T>C (p.Ser23Pro)	single nucleotide variant	Neuronopathy, distal hereditary motor, type 5B [RCV001542525]	Chr2:86282208 [GRCh38] Chr2:86509331 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.-34_-33insAGCCG	insertion	not provided [RCV001670620]	Chr2:86337543..86337544 [GRCh38] Chr2:86564666..86564667 [GRCh37] Chr2:2p11.2	benign
NC_000002.12:g.86338248A>G	single nucleotide variant	not provided [RCV001725564]	Chr2:86338248 [GRCh38] Chr2:86565371 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.154G>A (p.Glu52Lys)	single nucleotide variant	not provided [RCV001531493]	Chr2:86263993 [GRCh38] Chr2:86491116 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*1819G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001137572]	Chr2:86215220 [GRCh38] Chr2:86442343 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.836C>T (p.Ser279Leu)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001137684]	Chr2:86217058 [GRCh38] Chr2:86444181 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*787G>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001142429]	Chr2:86216252 [GRCh38] Chr2:86443375 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*93G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001137683]	Chr2:86216946 [GRCh38] Chr2:86444069 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.106-2A>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001207713]	Chr2:86264043 [GRCh38] Chr2:86491166 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.*1568T>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001139800]	Chr2:86215471 [GRCh38] Chr2:86442594 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.-4C>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001139905]	Chr2:86337514 [GRCh38] Chr2:86564637 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.853T>G (p.Ter285Gly)	single nucleotide variant	REEP1-related condition [RCV003413983]\|not provided [RCV001200634]	Chr2:86217041 [GRCh38] Chr2:86444164 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.340_347del (p.Ser114fs)	deletion	Hereditary spastic paraplegia 31 [RCV003497916]\|not provided [RCV001200635]	Chr2:86252027..86252034 [GRCh38] Chr2:86479150..86479157 [GRCh37] Chr2:2p11.2	pathogenic\|uncertain significance
NM_001371279.1(REEP1):c.*2896C>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001140458]	Chr2:86214143 [GRCh38] Chr2:86441266 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.209T>G (p.Ile70Arg)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001052430]	Chr2:86254788 [GRCh38] Chr2:86481911 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*1398G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001139804]	Chr2:86215641 [GRCh38] Chr2:86442764 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.-73G>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001139906]	Chr2:86337583 [GRCh38] Chr2:86564706 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.88A>C (p.Lys30Gln)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001064773]	Chr2:86282187 [GRCh38] Chr2:86509310 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*2357A>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001142318]	Chr2:86214682 [GRCh38] Chr2:86441805 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*2850T>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001140459]	Chr2:86214189 [GRCh38] Chr2:86441312 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*1330A>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001140574]	Chr2:86215709 [GRCh38] Chr2:86442832 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.59C>T (p.Ala20Val)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001213470]	Chr2:86282216 [GRCh38] Chr2:86509339 [GRCh37] Chr2:2p11.2	likely pathogenic\|uncertain significance
NM_001371279.1(REEP1):c.*218C>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001137681]	Chr2:86216821 [GRCh38] Chr2:86443944 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*124C>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001137682]	Chr2:86216915 [GRCh38] Chr2:86444038 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.289T>G (p.Ser97Ala)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001042224]	Chr2:86254708 [GRCh38] Chr2:86481831 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.*2967C>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001139695]	Chr2:86214072 [GRCh38] Chr2:86441195 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.164C>A (p.Thr55Lys)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001063448]\|Neuronopathy, distal hereditary motor, type 5B [RCV002290992]	Chr2:86263983 [GRCh38] Chr2:86491106 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.329C>A (p.Ala110Glu)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001253597]	Chr2:86252045 [GRCh38] Chr2:86479168 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.255_266del (p.Ser85_Tyr88del)	deletion	Hereditary spastic paraplegia 31 [RCV001348354]	Chr2:86254731..86254742 [GRCh38] Chr2:86481854..86481865 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.450dup (p.Phe151fs)	duplication	not provided [RCV001663653]	Chr2:86232769..86232770 [GRCh38] Chr2:86459892..86459893 [GRCh37] Chr2:2p11.2	pathogenic
GRCh37/hg19 2p11.2(chr2:85786006-86559358)x3	copy number gain	not provided [RCV001259609]	Chr2:85786006..86559358 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.32+1G>T	single nucleotide variant	not provided [RCV001267968]	Chr2:86337478 [GRCh38] Chr2:86564601 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.501del (p.Ser168fs)	deletion	not provided [RCV001268459]	Chr2:86232719 [GRCh38] Chr2:86459842 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.499C>T (p.Pro167Ser)	single nucleotide variant	not provided [RCV001288449]	Chr2:86232721 [GRCh38] Chr2:86459844 [GRCh37] Chr2:2p11.2	uncertain significance
GRCh37/hg19 2p12-11.2(chr2:81209244-86688030)x1	copy number loss	not provided [RCV001537915]	Chr2:81209244..86688030 [GRCh37] Chr2:2p12-11.2	pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	copy number gain	Mosaic trisomy 2 [RCV002280628]	Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_001371279.1(REEP1):c.*82G>A	single nucleotide variant	not provided [RCV001288448]	Chr2:86216957 [GRCh38] Chr2:86444080 [GRCh37] Chr2:2p11.2	uncertain significance
NC_000002.11:g.(?_86444152)_(86444243_?)del	deletion	Hereditary spastic paraplegia 31 [RCV001325536]	Chr2:86444152..86444243 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.293C>T (p.Ser98Leu)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001294796]	Chr2:86254704 [GRCh38] Chr2:86481827 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.388G>A (p.Ala130Thr)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001350109]	Chr2:86251986 [GRCh38] Chr2:86479109 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.175del (p.Leu59fs)	deletion	not provided [RCV001311203]	Chr2:86263972 [GRCh38] Chr2:86491095 [GRCh37] Chr2:2p11.2	pathogenic
NC_000002.11:g.(86491165_86509292)_(86509366_86565146)dup	duplication	Hereditary spastic paraplegia 31 [RCV001391397]	Chr2:86509292..86509366 [GRCh37] Chr2:2p11.2	uncertain significance
NC_000002.11:g.(86444234_86459747)_(86459926_86479079)del	deletion	Hereditary spastic paraplegia 31 [RCV001391398]	Chr2:86459747..86459926 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.166G>C (p.Asp56His)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001391637]	Chr2:86263981 [GRCh38] Chr2:86491104 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.545A>C (p.His182Pro)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001346428]	Chr2:86232675 [GRCh38] Chr2:86459798 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.583G>A (p.Ala195Thr)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001313970]	Chr2:86232637 [GRCh38] Chr2:86459760 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.16A>C (p.Ile6Leu)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001296769]	Chr2:86337495 [GRCh38] Chr2:86564618 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.478_479del (p.Arg160fs)	deletion	Hereditary spastic paraplegia 31 [RCV001340287]	Chr2:86232741..86232742 [GRCh38] Chr2:86459864..86459865 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.56C>T (p.Pro19Leu)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001391633]	Chr2:86282219 [GRCh38] Chr2:86509342 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.74dup (p.Ala26fs)	duplication	Hereditary spastic paraplegia 31 [RCV001391634]	Chr2:86282200..86282201 [GRCh38] Chr2:86509323..86509324 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.105+471_105+472insA	insertion	Hereditary spastic paraplegia 31 [RCV001391635]	Chr2:86281698..86281699 [GRCh38] Chr2:86508821..86508822 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.106-4A>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001391636]\|not provided [RCV002473253]	Chr2:86264045 [GRCh38] Chr2:86491168 [GRCh37] Chr2:2p11.2	pathogenic\|uncertain significance
NM_001371279.1(REEP1):c.182+5G>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001391638]	Chr2:86263960 [GRCh38] Chr2:86491083 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.145A>C (p.Thr49Pro)	single nucleotide variant	Spastic paraplegia [RCV001391476]	Chr2:86264002 [GRCh38] Chr2:86491125 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.249del (p.Ser84fs)	deletion	Hereditary spastic paraplegia 31 [RCV001391639]	Chr2:86254748 [GRCh38] Chr2:86481871 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.418-1G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001391642]	Chr2:86232803 [GRCh38] Chr2:86459926 [GRCh37] Chr2:2p11.2	pathogenic
NC_000002.11:g.(86491165_86509292)_(86509366_86565146)del	deletion	Hereditary spastic paraplegia 31 [RCV001391645]	Chr2:86509292..86509366 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.105+6T>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001316223]	Chr2:86282164 [GRCh38] Chr2:86509287 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.419G>T (p.Gly140Val)	single nucleotide variant	Spastic paraplegia [RCV001391478]	Chr2:86232801 [GRCh38] Chr2:86459924 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.478del (p.Arg160fs)	deletion	Hereditary spastic paraplegia 31 [RCV001871773]\|not provided [RCV001311202]	Chr2:86232742 [GRCh38] Chr2:86459865 [GRCh37] Chr2:2p11.2	pathogenic
NC_000002.11:g.(?_86444222)_(86565200_?)del	deletion	Hereditary spastic paraplegia 31 [RCV001391399]	Chr2:86444222..86565200 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.537C>T (p.Ser179=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001412970]\|Hereditary spastic paraplegia 31 [RCV001727851]	Chr2:86232683 [GRCh38] Chr2:86459806 [GRCh37] Chr2:2p11.2	likely benign\|uncertain significance
NM_001371279.1(REEP1):c.304-9C>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001464823]	Chr2:86252079 [GRCh38] Chr2:86479202 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.788C>T (p.Pro263Leu)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001492316]	Chr2:86217106 [GRCh38] Chr2:86444229 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.794G>A (p.Arg265Lys)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001476561]	Chr2:86217100 [GRCh38] Chr2:86444223 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.309C>T (p.Ile103=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001486996]	Chr2:86252065 [GRCh38] Chr2:86479188 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.345C>G (p.Tyr115Ter)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001390200]	Chr2:86252029 [GRCh38] Chr2:86479152 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.72del (p.Ser23_Tyr24insTer)	deletion	not provided [RCV001543574]	Chr2:86282203 [GRCh38] Chr2:86509326 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.417+1G>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001381758]	Chr2:86251956 [GRCh38] Chr2:86479079 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.224G>A (p.Trp75Ter)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001386988]	Chr2:86254773 [GRCh38] Chr2:86481896 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.248del (p.Gly83fs)	deletion	Neuronopathy, distal hereditary motor, type 5B [RCV001526840]\|Spinal muscular atrophy, distal, autosomal recessive, 6 [RCV002280585]	Chr2:86254749 [GRCh38] Chr2:86481872 [GRCh37] Chr2:2p11.2	pathogenic\|likely pathogenic
NC_000002.12:g.86213962G>T	single nucleotide variant	not provided [RCV001666566]	Chr2:86213962 [GRCh38] Chr2:86441085 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.203T>C (p.Leu68Pro)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001865942]\|not provided [RCV001508449]	Chr2:86254794 [GRCh38] Chr2:86481917 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.784-285A>C	single nucleotide variant	not provided [RCV001589454]	Chr2:86217395 [GRCh38] Chr2:86444518 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.417+45T>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001794503]\|Neuronopathy, distal hereditary motor, type 5B [RCV001794504]\|not provided [RCV001715630]	Chr2:86251912 [GRCh38] Chr2:86479035 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.105+26C>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001794505]\|Neuronopathy, distal hereditary motor, type 5B [RCV001794506]\|not provided [RCV001715631]	Chr2:86282144 [GRCh38] Chr2:86509267 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.519G>A (p.Pro173=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001497463]\|Inborn genetic diseases [RCV002334543]\|REEP1-related condition [RCV003966017]	Chr2:86232701 [GRCh38] Chr2:86459824 [GRCh37] Chr2:2p11.2	benign\|likely benign
NM_001371279.1(REEP1):c.336C>T (p.Asp112=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001498316]	Chr2:86252038 [GRCh38] Chr2:86479161 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.417+1G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001386861]\|Hereditary spastic paraplegia [RCV001847255]	Chr2:86251956 [GRCh38] Chr2:86479079 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.345C>T (p.Tyr115=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001428798]	Chr2:86252029 [GRCh38] Chr2:86479152 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.282C>T (p.Pro94=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001460168]	Chr2:86254715 [GRCh38] Chr2:86481838 [GRCh37] Chr2:2p11.2	likely benign
NC_000002.11:g.(?_86444152)_(86564643_?)del	deletion	Hereditary spastic paraplegia 31 [RCV001384017]	Chr2:86444152..86564643 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.808C>T (p.Arg270Cys)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001515532]	Chr2:86217086 [GRCh38] Chr2:86444209 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.304-5G>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001505533]	Chr2:86252075 [GRCh38] Chr2:86479198 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.57T>C (p.Pro19=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001426604]\|not provided [RCV001815549]	Chr2:86282218 [GRCh38] Chr2:86509341 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.9A>G (p.Ser3=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001399271]	Chr2:86337502 [GRCh38] Chr2:86564625 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.298G>A (p.Glu100Lys)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003093994]\|not specified [RCV002248153]	Chr2:86254699 [GRCh38] Chr2:86481822 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.417+1G>T	single nucleotide variant	not provided [RCV001730193]	Chr2:86251956 [GRCh38] Chr2:86479079 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.374del (p.Gly125fs)	deletion	not specified [RCV002248152]	Chr2:86252000 [GRCh38] Chr2:86479123 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.304-1G>A	single nucleotide variant	not provided [RCV001783680]	Chr2:86252071 [GRCh38] Chr2:86479194 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.99G>C (p.Lys33Asn)	single nucleotide variant	not provided [RCV001754644]	Chr2:86282176 [GRCh38] Chr2:86509299 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.133T>G (p.Phe45Val)	single nucleotide variant	not provided [RCV001771307]	Chr2:86264014 [GRCh38] Chr2:86491137 [GRCh37] Chr2:2p11.2	uncertain significance
NC_000002.11:g.(?_86444223)_(86509385_?)dup	duplication	Hereditary spastic paraplegia 31 [RCV001889309]	Chr2:86444223..86509385 [GRCh37] Chr2:2p11.2	uncertain significance
NC_000002.11:g.(?_86067267)_(87017948_?)del	deletion	Susceptibility to respiratory infections associated with CD8alpha chain mutation [RCV001928070]	Chr2:86067267..87017948 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.538G>A (p.Gly180Ser)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001988740]	Chr2:86232682 [GRCh38] Chr2:86459805 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.569G>A (p.Ser190Asn)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002022944]	Chr2:86232651 [GRCh38] Chr2:86459774 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.4G>A (p.Val2Met)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001929618]	Chr2:86337507 [GRCh38] Chr2:86564630 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.52del (p.Tyr18fs)	deletion	Hereditary spastic paraplegia [RCV001847502]	Chr2:86282223 [GRCh38] Chr2:86509346 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.344dup (p.Tyr115Ter)	duplication	Hereditary spastic paraplegia [RCV001847499]	Chr2:86252029..86252030 [GRCh38] Chr2:86479152..86479153 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.338G>A (p.Arg113Gln)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001969694]	Chr2:86252036 [GRCh38] Chr2:86479159 [GRCh37] Chr2:2p11.2	uncertain significance
GRCh37/hg19 2p12-11.2(chr2:82486900-87322042)	copy number loss	not specified [RCV002053172]	Chr2:82486900..87322042 [GRCh37] Chr2:2p12-11.2	pathogenic
NC_000002.11:g.(?_86509273)_(86564633_?)del	deletion	Hereditary spastic paraplegia 31 [RCV001982924]	Chr2:86509273..86564633 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.33-17G>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002007870]	Chr2:86282259 [GRCh38] Chr2:86509382 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.182+5G>T	single nucleotide variant	Hereditary spastic paraplegia [RCV001847497]	Chr2:86263960 [GRCh38] Chr2:86491083 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.550C>T (p.Gln184Ter)	single nucleotide variant	Hereditary spastic paraplegia [RCV001847503]	Chr2:86232670 [GRCh38] Chr2:86459793 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.58G>A (p.Ala20Thr)	single nucleotide variant	Hereditary spastic paraplegia [RCV001847504]\|not provided [RCV003332349]	Chr2:86282217 [GRCh38] Chr2:86509340 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.446G>A (p.Arg149Gln)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002006279]	Chr2:86232774 [GRCh38] Chr2:86459897 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.193T>C (p.Tyr65His)	single nucleotide variant	Hereditary spastic paraplegia [RCV001847498]	Chr2:86254804 [GRCh38] Chr2:86481927 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.379_389dup (p.Ala132fs)	duplication	Hereditary spastic paraplegia [RCV001847500]	Chr2:86251984..86251985 [GRCh38] Chr2:86479107..86479108 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.477C>T (p.Ile159=)	single nucleotide variant	Hereditary spastic paraplegia [RCV001847501]	Chr2:86232743 [GRCh38] Chr2:86459866 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.106-6C>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001954561]\|Inborn genetic diseases [RCV002407083]	Chr2:86264047 [GRCh38] Chr2:86491170 [GRCh37] Chr2:2p11.2	likely benign\|uncertain significance
NC_000002.11:g.(?_86292377)_(86509385_?)dup	duplication	not provided [RCV001943097]	Chr2:86292377..86509385 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.582C>A (p.Ser194Arg)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001944106]	Chr2:86232638 [GRCh38] Chr2:86459761 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.567del (p.Ser190fs)	deletion	Hereditary spastic paraplegia 31 [RCV002036563]	Chr2:86232653 [GRCh38] Chr2:86459776 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.792T>G (p.Pro264=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001995049]	Chr2:86217102 [GRCh38] Chr2:86444225 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.94A>G (p.Ile32Val)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001943786]	Chr2:86282181 [GRCh38] Chr2:86509304 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.244A>G (p.Lys82Glu)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001867667]	Chr2:86254753 [GRCh38] Chr2:86481876 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.303+6A>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001993482]	Chr2:86254688 [GRCh38] Chr2:86481811 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.460C>T (p.Gln154Ter)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001994630]	Chr2:86232760 [GRCh38] Chr2:86459883 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.182+5G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001961218]	Chr2:86263960 [GRCh38] Chr2:86491083 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.179G>A (p.Cys60Tyr)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001880480]	Chr2:86263968 [GRCh38] Chr2:86491091 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.304-3C>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002012988]	Chr2:86252073 [GRCh38] Chr2:86479196 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.784-5A>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002186393]	Chr2:86217115 [GRCh38] Chr2:86444238 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.570T>C (p.Ser190=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002092543]	Chr2:86232650 [GRCh38] Chr2:86459773 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.32+17C>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002147476]	Chr2:86337462 [GRCh38] Chr2:86564585 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.183-8C>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002169014]	Chr2:86254822 [GRCh38] Chr2:86481945 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.144C>T (p.Phe48=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002110747]	Chr2:86264003 [GRCh38] Chr2:86491126 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.105+10A>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002131649]	Chr2:86282160 [GRCh38] Chr2:86509283 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.182+20G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002216286]	Chr2:86263945 [GRCh38] Chr2:86491068 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.418-20C>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002194541]	Chr2:86232822 [GRCh38] Chr2:86459945 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.33-16T>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002174533]	Chr2:86282258 [GRCh38] Chr2:86509381 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.303+7T>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002101009]	Chr2:86254687 [GRCh38] Chr2:86481810 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.309C>A (p.Ile103=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002100001]	Chr2:86252065 [GRCh38] Chr2:86479188 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.304-9C>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002100274]	Chr2:86252079 [GRCh38] Chr2:86479202 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.806C>T (p.Ser269Phe)	single nucleotide variant	not provided [RCV002227366]	Chr2:86217088 [GRCh38] Chr2:86444211 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.784-20_784-19delinsTG	indel	Hereditary spastic paraplegia 31 [RCV002099033]	Chr2:86217129..86217130 [GRCh38] Chr2:86444252..86444253 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.595+14T>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002182089]	Chr2:86232611 [GRCh38] Chr2:86459734 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.33-8C>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003110505]	Chr2:86282250 [GRCh38] Chr2:86509373 [GRCh37] Chr2:2p11.2	likely benign
NC_000002.11:g.(?_86459728)_(86459945_?)del	deletion	Hereditary spastic paraplegia 31 [RCV003111514]	Chr2:86459728..86459945 [GRCh37] Chr2:2p11.2	uncertain significance
NC_000002.11:g.(?_86479060)_(86509385_?)dup	duplication	Hereditary spastic paraplegia 31 [RCV003111515]	Chr2:86479060..86509385 [GRCh37] Chr2:2p11.2	likely pathogenic
NC_000002.11:g.(?_85766411)_(86564633_?)del	deletion	Hereditary spastic paraplegia 31 [RCV003111516]	Chr2:85766411..86564633 [GRCh37] Chr2:2p11.2	pathogenic
NC_000002.11:g.(?_86444223)_(86444253_?)del	deletion	Hereditary spastic paraplegia 31 [RCV003111517]	Chr2:86444223..86444253 [GRCh37] Chr2:2p11.2	uncertain significance
NC_000002.11:g.(?_86479060)_(86481957_?)del	deletion	Hereditary spastic paraplegia 31 [RCV003111518]	Chr2:86479060..86481957 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.160T>G (p.Phe54Val)	single nucleotide variant	Neuronopathy, distal hereditary motor, type 5B [RCV003148371]	Chr2:86263987 [GRCh38] Chr2:86491110 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.148del (p.Thr50fs)	deletion	Hereditary spastic paraplegia 31 [RCV002288268]	Chr2:86263999 [GRCh38] Chr2:86491122 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.545_546delinsTA (p.His182Leu)	indel	not provided [RCV002275538]	Chr2:86232674..86232675 [GRCh38] Chr2:86459797..86459798 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001164730.2(REEP1):c.40dup (p.Arg14fs)	duplication	Hereditary spastic paraplegia 31 [RCV002262182]	Chr2:86338036..86338037 [GRCh38] Chr2:86565159..86565160 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.537C>A (p.Ser179Arg)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003600426]\|not provided [RCV002263211]	Chr2:86232683 [GRCh38] Chr2:86459806 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.124T>C (p.Trp42Arg)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002280598]\|Spinal muscular atrophy, distal, autosomal recessive, 6 [RCV002280599]	Chr2:86264023 [GRCh38] Chr2:86491146 [GRCh37] Chr2:2p11.2	pathogenic
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	copy number loss	See cases [RCV002287563]	Chr2:11504318..111365996 [GRCh37] Chr2:2p25.1-q13	pathogenic
NM_022912.2(REEP1):c.106delG	deletion	Hereditary spastic paraplegia 31 [RCV002280597]\|not provided [RCV002280067]	Chr2:86264041 [GRCh38] Chr2:86491164 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.544C>T (p.His182Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002349648]	Chr2:86232676 [GRCh38] Chr2:86459799 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.418-7222del	deletion	not provided [RCV002293019]	Chr2:86240024 [GRCh38] Chr2:86467147 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.683A>C (p.Gln228Pro)	single nucleotide variant	Neuronopathy, distal hereditary motor, type 5B [RCV003148475]	Chr2:86220070 [GRCh38] Chr2:86447193 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.377T>A (p.Leu126Ter)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002468772]	Chr2:86251997 [GRCh38] Chr2:86479120 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.786_787insAA (p.Pro263fs)	insertion	not provided [RCV002475059]	Chr2:86217107..86217108 [GRCh38] Chr2:86444230..86444231 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.104A>C (p.Tyr35Ser)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002299280]	Chr2:86282171 [GRCh38] Chr2:86509294 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.475A>G (p.Ile159Val)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003099123]\|not provided [RCV002308819]	Chr2:86232745 [GRCh38] Chr2:86459868 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.131T>C (p.Ile44Thr)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002294929]	Chr2:86264016 [GRCh38] Chr2:86491139 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.418-2A>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002816551]	Chr2:86232804 [GRCh38] Chr2:86459927 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.560T>C (p.Met187Thr)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002731258]	Chr2:86232660 [GRCh38] Chr2:86459783 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.269A>G (p.Lys90Arg)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002750786]\|not provided [RCV003427500]	Chr2:86254728 [GRCh38] Chr2:86481851 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.504G>A (p.Ser168=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003074252]	Chr2:86232716 [GRCh38] Chr2:86459839 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.258C>T (p.Leu86=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003076892]	Chr2:86254739 [GRCh38] Chr2:86481862 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.32+19del	deletion	Hereditary spastic paraplegia 31 [RCV002842318]	Chr2:86337460 [GRCh38] Chr2:86564583 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.32+17C>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002996363]	Chr2:86337462 [GRCh38] Chr2:86564585 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.106-11T>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002816025]	Chr2:86264052 [GRCh38] Chr2:86491175 [GRCh37] Chr2:2p11.2	likely benign
GRCh37/hg19 2p11.2(chr2:86292397-86509365)x3	copy number gain	not provided [RCV002512029]	Chr2:86292397..86509365 [GRCh37] Chr2:2p11.2	uncertain significance
GRCh37/hg19 2p11.2(chr2:85786007-86559358)x3	copy number gain	not provided [RCV002475677]	Chr2:85786007..86559358 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.595+4G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002775744]	Chr2:86232621 [GRCh38] Chr2:86459744 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.229C>T (p.Leu77=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002863642]	Chr2:86254768 [GRCh38] Chr2:86481891 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.503C>T (p.Ser168Leu)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002904369]\|Inborn genetic diseases [RCV002926873]	Chr2:86232717 [GRCh38] Chr2:86459840 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.182+16G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002621307]	Chr2:86263949 [GRCh38] Chr2:86491072 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.230T>C (p.Leu77Pro)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003100633]	Chr2:86254767 [GRCh38] Chr2:86481890 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.15C>A (p.Ile5=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002886609]	Chr2:86337496 [GRCh38] Chr2:86564619 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.295A>G (p.Lys99Glu)	single nucleotide variant	Inborn genetic diseases [RCV002887779]	Chr2:86254702 [GRCh38] Chr2:86481825 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.106-12C>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002637853]	Chr2:86264053 [GRCh38] Chr2:86491176 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.32+6del	deletion	Hereditary spastic paraplegia 31 [RCV002853181]	Chr2:86337473 [GRCh38] Chr2:86564596 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.303G>A (p.Lys101=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002664246]	Chr2:86254694 [GRCh38] Chr2:86481817 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.183-12C>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003024131]	Chr2:86254826 [GRCh38] Chr2:86481949 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.304-1G>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002894864]	Chr2:86252071 [GRCh38] Chr2:86479194 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.457A>C (p.Met153Leu)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002642487]	Chr2:86232763 [GRCh38] Chr2:86459886 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.32+16C>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002710121]	Chr2:86337463 [GRCh38] Chr2:86564586 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.418-15C>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003056894]	Chr2:86232817 [GRCh38] Chr2:86459940 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.183-20G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002626213]	Chr2:86254834 [GRCh38] Chr2:86481957 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.417+1del	deletion	Hereditary spastic paraplegia 31 [RCV003025963]	Chr2:86251956 [GRCh38] Chr2:86479079 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.515C>T (p.Pro172Leu)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002640720]	Chr2:86232705 [GRCh38] Chr2:86459828 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.784-4C>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002602322]	Chr2:86217114 [GRCh38] Chr2:86444237 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.33-18T>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003064232]	Chr2:86282260 [GRCh38] Chr2:86509383 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.33-15C>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002895275]	Chr2:86282257 [GRCh38] Chr2:86509380 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.32+4A>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002833168]	Chr2:86337475 [GRCh38] Chr2:86564598 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.128_138dup (p.Phe48fs)	duplication	Hereditary spastic paraplegia 31 [RCV003030499]	Chr2:86264008..86264009 [GRCh38] Chr2:86491131..86491132 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.57del (p.Ala20fs)	deletion	Hereditary spastic paraplegia 31 [RCV002806831]	Chr2:86282218 [GRCh38] Chr2:86509341 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.288A>G (p.Leu96=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV002632090]	Chr2:86254709 [GRCh38] Chr2:86481832 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.32+2T>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003026323]	Chr2:86337477 [GRCh38] Chr2:86564600 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.387C>T (p.Ala129=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003070929]	Chr2:86251987 [GRCh38] Chr2:86479110 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.546C>T (p.His182=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003093625]\|Inborn genetic diseases [RCV003358085]	Chr2:86232674 [GRCh38] Chr2:86459797 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.417G>C (p.Lys139Asn)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003050218]	Chr2:86251957 [GRCh38] Chr2:86479080 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.191T>C (p.Phe64Ser)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003497979]\|Inborn genetic diseases [RCV003191361]	Chr2:86254806 [GRCh38] Chr2:86481929 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.275T>A (p.Val92Glu)	single nucleotide variant	not provided [RCV003223036]	Chr2:86254722 [GRCh38] Chr2:86481845 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.784G>A (p.Ala262Thr)	single nucleotide variant	Inborn genetic diseases [RCV003281698]	Chr2:86217110 [GRCh38] Chr2:86444233 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001164730.2(REEP1):c.11T>C (p.Val4Ala)	single nucleotide variant	REEP1-related condition [RCV003427736]\|not provided [RCV003327037]	Chr2:86338066 [GRCh38] Chr2:86565189 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.327del (p.Ala110fs)	deletion	Inborn genetic diseases [RCV003371676]	Chr2:86252047 [GRCh38] Chr2:86479170 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.715G>A (p.Glu239Lys)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003448797]	Chr2:86220038 [GRCh38] Chr2:86447161 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.161del (p.Phe54fs)	deletion	not provided [RCV003482505]	Chr2:86263986 [GRCh38] Chr2:86491109 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.122A>G (p.Tyr41Cys)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003455905]	Chr2:86264025 [GRCh38] Chr2:86491148 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.2012_2015dup	duplication	not provided [RCV003427091]	Chr2:86215023..86215024 [GRCh38] Chr2:86442146..86442147 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.2007_2015del	deletion	not provided [RCV003427092]	Chr2:86215024..86215032 [GRCh38] Chr2:86442147..86442155 [GRCh37] Chr2:2p11.2	benign
NM_001371279.1(REEP1):c.55C>A (p.Pro19Thr)	single nucleotide variant	REEP1-related condition [RCV003391646]	Chr2:86282220 [GRCh38] Chr2:86509343 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.176T>A (p.Leu59His)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003388204]	Chr2:86263971 [GRCh38] Chr2:86491094 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.44G>T (p.Gly15Val)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003389301]	Chr2:86282231 [GRCh38] Chr2:86509354 [GRCh37] Chr2:2p11.2	likely pathogenic
NM_001371279.1(REEP1):c.518C>G (p.Pro173Arg)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003601554]	Chr2:86232702 [GRCh38] Chr2:86459825 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.395C>T (p.Ala132Val)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003601975]	Chr2:86251979 [GRCh38] Chr2:86479102 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.26T>C (p.Leu9Pro)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003602096]	Chr2:86337485 [GRCh38] Chr2:86564608 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.418-17T>C	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003601502]	Chr2:86232819 [GRCh38] Chr2:86459942 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.417+9C>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003601373]	Chr2:86251948 [GRCh38] Chr2:86479071 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.473C>T (p.Thr158Ile)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003600551]	Chr2:86232747 [GRCh38] Chr2:86459870 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.211G>A (p.Ala71Thr)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003601531]	Chr2:86254786 [GRCh38] Chr2:86481909 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.441A>G (p.Arg147=)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003601652]	Chr2:86232779 [GRCh38] Chr2:86459902 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.182+4A>G	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003601843]	Chr2:86263961 [GRCh38] Chr2:86491084 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.220G>T (p.Ala74Ser)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003600602]	Chr2:86254777 [GRCh38] Chr2:86481900 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.340A>G (p.Ser114Gly)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003602527]	Chr2:86252034 [GRCh38] Chr2:86479157 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.33-17G>A	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003498504]	Chr2:86282259 [GRCh38] Chr2:86509382 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.437A>G (p.Glu146Gly)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003497398]	Chr2:86232783 [GRCh38] Chr2:86459906 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.32+7G>T	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003498536]	Chr2:86337472 [GRCh38] Chr2:86564595 [GRCh37] Chr2:2p11.2	likely benign
NM_001371279.1(REEP1):c.530G>A (p.Arg177Gln)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003499907]	Chr2:86232690 [GRCh38] Chr2:86459813 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.470C>T (p.Thr157Ile)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003498894]	Chr2:86232750 [GRCh38] Chr2:86459873 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.250_253dup (p.Ser85fs)	duplication	Hereditary spastic paraplegia 31 [RCV003499300]	Chr2:86254743..86254744 [GRCh38] Chr2:86481866..86481867 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.72C>A (p.Tyr24Ter)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003498280]	Chr2:86282203 [GRCh38] Chr2:86509326 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.137C>T (p.Ala46Val)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003498506]	Chr2:86264010 [GRCh38] Chr2:86491133 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.304G>A (p.Glu102Lys)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003499253]	Chr2:86252070 [GRCh38] Chr2:86479193 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.361T>C (p.Phe121Leu)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003846363]	Chr2:86252013 [GRCh38] Chr2:86479136 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.94A>T (p.Ile32Phe)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV003862023]	Chr2:86282181 [GRCh38] Chr2:86509304 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.434C>T (p.Ser145Leu)	single nucleotide variant	REEP1-related condition [RCV003893943]	Chr2:86232786 [GRCh38] Chr2:86459909 [GRCh37] Chr2:2p11.2	uncertain significance
NM_001371279.1(REEP1):c.299_303del (p.Glu100fs)	microsatellite	Hereditary spastic paraplegia 31 [RCV001391641]	Chr2:86254694..86254698 [GRCh38] Chr2:86481817..86481821 [GRCh37] Chr2:2p11.2	pathogenic
NM_001371279.1(REEP1):c.260T>G (p.Leu87Arg)	single nucleotide variant	Hereditary spastic paraplegia 31 [RCV001391640]	Chr2:86254737 [GRCh38] Chr2:86481860 [GRCh37] Chr2:2p11.2	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	6363
Count of miRNA genes:	1124
Interacting mature miRNAs:	1393
Transcripts:	ENST00000165698, ENST00000428491, ENST00000437769, ENST00000453231, ENST00000473407, ENST00000475475, ENST00000489855, ENST00000490915, ENST00000535845, ENST00000538924, ENST00000540790, ENST00000541910
Prediction methods:	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

G16358

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	86,455,272 - 86,455,371	UniSTS	GRCh37
Build 36	2	86,308,783 - 86,308,882	RGD	NCBI36
Celera	2	86,283,341 - 86,283,440	RGD
Cytogenetic Map	2	p11.2	UniSTS
HuRef	2	86,352,679 - 86,352,778	UniSTS

D2S2907

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	86,440,686 - 86,440,820	UniSTS	GRCh37
Build 36	2	86,294,197 - 86,294,331	RGD	NCBI36
Celera	2	86,268,821 - 86,268,955	RGD
Cytogenetic Map	2	p11.2	UniSTS
HuRef	2	86,338,150 - 86,338,284	UniSTS

D2S1982

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	86,441,141 - 86,441,299	UniSTS	GRCh37
Build 36	2	86,294,652 - 86,294,810	RGD	NCBI36
Celera	2	86,269,276 - 86,269,434	RGD
Cytogenetic Map	2	p11.2	UniSTS
HuRef	2	86,338,605 - 86,338,763	UniSTS
GeneMap99-GB4 RH Map	2	301.5	UniSTS
Whitehead-RH Map	2	384.8	UniSTS
Whitehead-YAC Contig Map	2		UniSTS
NCBI RH Map	2	460.4	UniSTS

IB589

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	86,456,789 - 86,457,107	UniSTS	GRCh37
Build 36	2	86,310,300 - 86,310,618	RGD	NCBI36
Celera	2	86,284,846 - 86,285,164	RGD
Cytogenetic Map	2	p11.2	UniSTS
HuRef	2	86,354,184 - 86,354,502	UniSTS
GeneMap99-GB4 RH Map	2	299.74	UniSTS
Whitehead-RH Map	2	382.1	UniSTS
NCBI RH Map	2	460.4	UniSTS

D2S204E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	86,540,622 - 86,540,718	UniSTS	GRCh37
GRCh37	2	86,540,522 - 86,540,753	UniSTS	GRCh37
GRCh37	2	86,540,495 - 86,540,618	UniSTS	GRCh37
Build 36	2	86,394,133 - 86,394,229	RGD	NCBI36
Celera	2	86,368,662 - 86,368,758	RGD
Celera	2	86,368,535 - 86,368,658	UniSTS
Celera	2	86,368,562 - 86,368,793	UniSTS
Cytogenetic Map	2	p11.2	UniSTS
HuRef	2	86,437,913 - 86,438,009	UniSTS
HuRef	2	86,437,813 - 86,438,044	UniSTS
HuRef	2	86,437,786 - 86,437,909	UniSTS
Stanford-G3 RH Map	2	3886.0	UniSTS
GeneMap99-G3 RH Map	2	4298.0	UniSTS

D2S234E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	86,442,872 - 86,442,965	UniSTS	GRCh37
Build 36	2	86,296,383 - 86,296,476	RGD	NCBI36
Celera	2	86,271,007 - 86,271,100	RGD
Cytogenetic Map	2	p11.2	UniSTS
HuRef	2	86,340,336 - 86,340,429	UniSTS

Cda0hf07

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	86,441,212 - 86,441,286	UniSTS	GRCh37
Build 36	2	86,294,723 - 86,294,797	RGD	NCBI36
Celera	2	86,269,347 - 86,269,421	RGD
Cytogenetic Map	2	p11.2	UniSTS
HuRef	2	86,338,676 - 86,338,750	UniSTS
GeneMap99-GB4 RH Map	2	299.76	UniSTS
NCBI RH Map	2	460.4	UniSTS

G19700

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	86,442,284 - 86,442,396	UniSTS	GRCh37
Build 36	2	86,295,795 - 86,295,907	RGD	NCBI36
Celera	2	86,270,419 - 86,270,531	RGD
Cytogenetic Map	2	p11.2	UniSTS
HuRef	2	86,339,748 - 86,339,860	UniSTS

A001V44

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	86,442,284 - 86,442,396	UniSTS	GRCh37
Build 36	2	86,295,795 - 86,295,907	RGD	NCBI36
Celera	2	86,270,419 - 86,270,531	RGD
Cytogenetic Map	2	p11.2	UniSTS
HuRef	2	86,339,748 - 86,339,860	UniSTS
GeneMap99-GB4 RH Map	2	299.76	UniSTS
NCBI RH Map	2	460.4	UniSTS

STS-M78559

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	86,540,550 - 86,540,609	UniSTS	GRCh37
Build 36	2	86,394,061 - 86,394,120	RGD	NCBI36
Celera	2	86,368,590 - 86,368,649	RGD
Cytogenetic Map	2	p11.2	UniSTS
HuRef	2	86,437,841 - 86,437,900	UniSTS
GeneMap99-GB4 RH Map	2	321.73	UniSTS
NCBI RH Map	2	460.4	UniSTS

D2S1432

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	86,511,992 - 86,512,201	UniSTS	GRCh37
Build 36	2	86,365,503 - 86,365,712	RGD	NCBI36
Celera	2	86,340,040 - 86,340,249	RGD
Cytogenetic Map	2	p11.2	UniSTS
HuRef	2	86,409,297 - 86,409,506	UniSTS
Whitehead-YAC Contig Map	2		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

1636

1435

260

867

1117

2139

689

180

789

Low

724

787

1136

351

605

200

3369

1050

1561

303

697

1404

159

1003

1990

Below cutoff

722

312

257

1090

250

102

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_013037	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001164730	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001164731	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001164732	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001371279	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001371280	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001410855	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001410856	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_022912	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005264504	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011533044	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011533045	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017004725	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017004726	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017004727	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047445536	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047445537	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343428	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343429	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343430	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343431	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343432	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343433	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343434	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343435	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB073662	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC009309	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC009408	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK022775	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK023172	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK294300	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297201	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297287	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297359	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK297373	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK299334	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL080222	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY562239	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC064846	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC139746	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI493883	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471053	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR457301	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA495719	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB078037	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MN734426	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000165698 ⟹ ENSP00000165698

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,213,993 - 86,337,654 (-)	Ensembl

RefSeq Acc Id:

ENST00000453231 ⟹ ENSP00000392197

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,216,794 - 86,338,083 (-)	Ensembl

RefSeq Acc Id:

ENST00000473407

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,232,734 - 86,337,469 (-)	Ensembl

RefSeq Acc Id:

ENST00000475475

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,263,994 - 86,337,065 (-)	Ensembl

RefSeq Acc Id:

ENST00000489855 ⟹ ENSP00000475269

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,251,352 - 86,282,210 (-)	Ensembl

RefSeq Acc Id:

ENST00000490915

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,232,676 - 86,255,018 (-)	Ensembl

RefSeq Acc Id:

ENST00000535845 ⟹ ENSP00000437567

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,216,554 - 86,337,627 (-)	Ensembl

RefSeq Acc Id:

ENST00000538924 ⟹ ENSP00000438346

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,213,993 - 86,337,626 (-)	Ensembl

RefSeq Acc Id:

ENST00000541910 ⟹ ENSP00000442681

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,216,581 - 86,337,589 (-)	Ensembl

RefSeq Acc Id:

ENST00000642243 ⟹ ENSP00000494960

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,216,517 - 86,282,232 (-)	Ensembl

RefSeq Acc Id:

ENST00000643817 ⟹ ENSP00000495610

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,215,618 - 86,337,654 (-)	Ensembl

RefSeq Acc Id:

ENST00000644644 ⟹ ENSP00000494305

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,215,319 - 86,282,232 (-)	Ensembl

RefSeq Acc Id:

ENST00000646181

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,214,251 - 86,223,785 (-)	Ensembl

RefSeq Acc Id:

ENST00000686220 ⟹ ENSP00000509904

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,215,068 - 86,337,626 (-)	Ensembl

RefSeq Acc Id:

ENST00000687696

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,215,096 - 86,225,472 (-)	Ensembl

RefSeq Acc Id:

ENST00000687927

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,215,057 - 86,225,589 (-)	Ensembl

RefSeq Acc Id:

ENST00000688400 ⟹ ENSP00000510490

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,215,064 - 86,337,510 (-)	Ensembl

RefSeq Acc Id:

ENST00000689156 ⟹ ENSP00000509143

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,215,096 - 86,337,644 (-)	Ensembl

RefSeq Acc Id:

ENST00000691093 ⟹ ENSP00000509465

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,215,039 - 86,337,632 (-)	Ensembl

RefSeq Acc Id:

ENST00000691703 ⟹ ENSP00000508496

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,216,840 - 86,337,654 (-)	Ensembl

RefSeq Acc Id:

ENST00000692664 ⟹ ENSP00000508656

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,215,039 - 86,337,626 (-)	Ensembl

RefSeq Acc Id:

ENST00000693329 ⟹ ENSP00000508490

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	86,215,156 - 86,337,654 (-)	Ensembl

RefSeq Acc Id:

NM_001164730 ⟹ NP_001158202

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	86,213,993 - 86,338,083 (-)	NCBI
GRCh37	2	86,441,116 - 86,565,206 (-)	NCBI
HuRef	2	86,338,580 - 86,462,643 (-)	ENTREZGENE
CHM1_1	2	86,370,561 - 86,495,314 (-)	NCBI
T2T-CHM13v2.0	2	86,216,087 - 86,340,099 (-)	NCBI

Sequence:

show sequence

GTTTCTTATGCAGAAAGTGCTGAGCAACGGACAGACTGAAGAGGTTAGGTCTGGATCCAGGCTT
ATATTTGGCACCCTTTACCCTGCGTATTATTCCTACAAGGCTGTGAAATCAAAGGACATTAAGG
AATATGTCAAATGGATGATGTACTGGATTATATTTGCACTTTTCACCACAGCAGAGACATTCAC
AGACATCTTCCTTTGTTGGTTTCCATTCTATTATGAACTAAAAATAGCATTTGTAGCCTGGCTG
CTGTCTCCCTACACAAAAGGCTCCAGCCTCCTGTACAGGAAGTTTGTACATCCCACGCTATCTT
CAAAAGAAAAGGAAATCGATGATTGTCTGGTCCAAGCAAAAGACCGAAGTTACGATGCCCTTGT
GCACTTCGGGAAGCGGGGCTTGAACGTGGCCGCCACAGCGGCTGTGATGGCTGCTTCCAAGGGA
CAGGGTGCCTTATCGGAGAGACTGCGGAGCTTCAGCATGCAGGACCTCACCACCATCAGGGGAG
ACGGCGCCCCTGCTCCCTCGGGCCCCCCACCACCGGGGTCTGGGCGGGCCAGCGGCAAACACGG
CCAGCCTAAGATGTCCAGGAGTGCTTCTGAGAGCGCTAGCAGCTCAGGCACCGCCTAGAATCCT
TCGATCTCGCTTCAGGAAGAAAAGTACCTCATCCTCGGCCACCGAAACCACGTGAGTGAGATGA
GCCAACAGCACCGGATCCACAGAATGTTTCTTCTCTGCCTTAAAGAGCTATTCACTAATAACAT
AGAAATCCGCAAGCTGGGTGTGCTTTGAGTGTGCAGCCTCACAAACATGGCCTTTTCTCTCTCC
CCTTCCACTTTTAAGGATTTATTTTTTTCCCCCTTTTCTTTATTTTGCTGGGGAGAGGCTAAAG
GGAAAGGTAGTAGGGGCGGGGGTGGTGACCTTTAAGTCTTCTGAGGTTGGTAATTTTCCACAAT
TGGATTGTCATTATAGACAGCAGTGTGTTTTTTAGAAAGATAAGAGAATCACCCCTATGCTGCT
GAGATGTACATTTGTAATTTATCTGTTGCATACTTAGTTTTTAGTCCTGTAAATGCAAACACAG
CATTTTTTACAACTTTCTTTGTTCTTGGTACTTATACTTTGAACTATGATGTACATATTTATGG
CTTTTGGCTTTTAATATAATGGACTTGCAAGGGCTGCCAGAGGTTCTGATATGTAAGAAAACTG
CAAAAACAAATATAGACAAATATTTTGATTCTAGAGAACGTCTCAGATGTGCTTATAAAGCTTC
CAAATACAACTCCAGTAAGACATCCCTTTCCCTGCAGGAGTGTGGTCTATATTCTTTAGATAGT
TGTTTAGTCAAAAGACCAGACAAGTTACAAACTAAGAGAAACAATATTTCACAACACAGTAAAG
TGTGATGAGAGGTCAGGGGAACATCCCAGTAAAAGAGAAGAGTCACAGGAAGCTCATCTCCTCC
CTGGATTCTGGATTAGGAGCTTCTGAATCTTTTCCAGGGATAGGCAGGTAGCTCACTCTTGGTG
CAATTTCTTGAGGATGGGAACATGTAGAGCTGCTGGAAGGAGTAATTCTGTGCTTGACAAAGGA
CGATTTCTCCTTTATCGTGACCAGTGCTGCCGATTTCCTGACAGAGGAGCTTACACTCTGAGCA
CCTTGTTTTAGCGAACTCTAGCAAAACTTGTTTAGCTTAGCAAAAACAAACACACAAAAAACTG
AGAACTCTGCTGTTTCAGATATGCCATAACATACATCTGAAACACATGTGTAACAATCAAAATG
GTGGGCTCTAGAATGGTTTTGGAGCTCGAGATCTTCATGGGTTAGACTTGCTGGTCAGACCCAG
GAGCACCTGTGGCTCACACCTTCTGTTCCCCTCCTGGCCTGTGCAGAATGTAAACAGCAGACTC
ATACTCAATGGGCACTACAGGCCTTATCAGACGTTTTATACAAGCCTGGATTGCTTAGTAGGGG
AATAAGGCATTCTCTGAGGGGGCTTTCCACTTAGATTGAGAATTTTATTTGAAAAGAATCTGGT
TTAAATGGCATTGTGGTCCGAGGTAGCTGCTCTCCCCACTGAGAGCTGAGCCGAAATATAAGAA
TAATATATTTGTGCTTCGAGTTGGTGTTTCTTTCAGTGTAATGCATGCAGTGGTCACAACCCAG
TTACTCATAATATTTGGATTGTATTTGTTCGTAGATATGCCCAGAAGACTAGAGAATTAGTGTT
ATATACCATATAGAACTTACTGTCAGTCAACTATAAACAGGCCCAATTAAAAACTGTTCCATTA
CTACGCAAACACATATTAGAGGCCTTTGCTGATGACACATTAGCTGGATCTTAGCCACCCCAGA
AAGGGTTTGATTTGAAGCTGATTGTTGCCAGATATGCATATTGGAATCCCATCTACCCATAGTT
CCTCTGAAGGTGATTTTGTAATTTGCAAAAGGGTATAGGAAAATATACCTAAAAGCGAATTTGT
GGCTGAGAGGATAAACAGAAGCTGTTTGCTCATGTTCTGTGCCCCACACCCACCAATACCTAAA
TCTGTTAAGGAAGACAGAAAATGTTTTCTTTGTGCTCATTGAGTAGTTCCAGACAGAAGAAGAA
TATACTCTTTAAAATGTATTTACCTGTTAGTTGGAAGTACCCAGAATTATCAGAAACGAATGCA
AAAAAAAAAAAAAAAAAAAAAAGCTTACACAGCTTCTTAGCAATTTTTTTTTTTTTGCCGAAAC
AATAAATTGCCTTTAGCAGCAGTTTAAAATCCTATCGTGAACAACCTATATTTTCGCCATTTTA
CAATGGAGAGTTGTGACAAGTACAGGTTATCAAGTTTGCACTTAACTATGCCAAAAAAAGTTTG
AAGCGCTCTATTCTCAGACATGCTGTATTATTACTTCTCATTCAAGATTGAAAAATATAAAGGT
ATCCAAACTCTGTCTTAATGTAAATGTAACTATTTTTCCTTCAAGTGTTGACTAGGGAGTCGGT
TTCTCTCTTAAAGACACTCACTGTACAACTGAAAGCAGCTGTCATATTTCTGGCAAAATGTGTT
TACGTATCTGACAAGTTGTACATTTGTGTATGAACTGACATAAAATGTGAAAGCCTGTAAGTGT
ACATGTAGTGGTGTGGTGTTCTGTCTAGAGGATACAACTGAATGTTTTTAATTTGCTGACTTAC
AGACACAGGCTGTTTACAAAATGCTAGCTGGAAAGTCTGTAATGTTCATGTCATAACTTTTAGT
TAATTGCCATTGAGCACCTGTTCTGAGGAGGTGAGATGTGGACTTGTGCTTATAAACTGGAGAG
TTTAGTCATAATCCCTCCTGGCTTTGTGTGAATAGCTTGCTCACTTTGCTGGCCTTTGAAATGT
GTTCTCCGTGATAAGCTATCCATGTGTTTGTGATAAGAGTGCTTGTCAACCATGACCATCTTTG
AGCCTTCCTAGTCCTCCACCTGGCACAGTATTTGAAATGGCAAAGGATGTGCTTCATCCTCTAA
CAGTGTACACTCCCAGAGCTGATATTCTGGATTTTGACTGTGCACATTTCCTCTAGTTCATGTC
TGTAGTCCCTATAGAATGATCTGTAATAAAATAGTATACTGGACTGTGCATCAAAGGGATGTAA
AATTACAGTATTCCAAAGGTTGAAGTTCTGCTGTTTTGTTATAATGCCTGATACACATCTTGAA
TAAAGTCTTAACATTTTTCTTTTAAAAAA

hide sequence

RefSeq Acc Id:

NM_001164731 ⟹ NP_001158203

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	86,213,993 - 86,337,626 (-)	NCBI
GRCh37	2	86,441,116 - 86,565,206 (-)	NCBI
HuRef	2	86,338,580 - 86,462,643 (-)	ENTREZGENE
CHM1_1	2	86,370,561 - 86,494,885 (-)	NCBI
T2T-CHM13v2.0	2	86,216,087 - 86,339,642 (-)	NCBI

Sequence:

show sequence

AGTCTGGCGGCGGCTGCCGTGAGCTGACTGACGTTCCGGGAACGCCGCAGCAGCCCGCGCCGCC
CGCAGCCTAGCCGAGCCGCGCCGCCCGGGCCTCGCCCGCCCGCCTGCCCGCCATGGTGTCATGG
ATCATCTCCAGGCTGGTGGTGTCAAATGGATGATGTACTGGATTATATTTGCACTTTTCACCAC
AGCAGAGACATTCACAGACATCTTCCTTTGTTGGTTTCCATTCTATTATGAACTAAAAATAGCA
TTTGTAGCCTGGCTGCTGTCTCCCTACACAAAAGGCTCCAGCCTCCTGTACAGGAAGTTTGTAC
ATCCCACGCTATCTTCAAAAGAAAAGGAAATCGATGATTGTCTGGTCCAAGCAAAAGACCGAAG
TTACGATGCCCTTGTGCACTTCGGGAAGCGGGGCTTGAACGTGGCCGCCACAGCGGCTGTGATG
GCTGCTTCCAAGGGACAGGGTGCCTTATCGGAGAGACTGCGGAGCTTCAGCATGCAGGACCTCA
CCACCATCAGGGGAGACGGCGCCCCTGCTCCCTCGGGCCCCCCACCACCGGGGTCTGGGCGGGC
CAGCGGCAAACACGGCCAGCCTAAGATGTCCAGGAGTGCTTCTGAGAGCGCTAGCAGCTCAGGC
ACCGCCTAGAATCCTTCGATCTCGCTTCAGGAAGAAAAGTACCTCATCCTCGGCCACCGAAACC
ACGTGAGTGAGATGAGCCAACAGCACCGGATCCACAGAATGTTTCTTCTCTGCCTTAAAGAGCT
ATTCACTAATAACATAGAAATCCGCAAGCTGGGTGTGCTTTGAGTGTGCAGCCTCACAAACATG
GCCTTTTCTCTCTCCCCTTCCACTTTTAAGGATTTATTTTTTTCCCCCTTTTCTTTATTTTGCT
GGGGAGAGGCTAAAGGGAAAGGTAGTAGGGGCGGGGGTGGTGACCTTTAAGTCTTCTGAGGTTG
GTAATTTTCCACAATTGGATTGTCATTATAGACAGCAGTGTGTTTTTTAGAAAGATAAGAGAAT
CACCCCTATGCTGCTGAGATGTACATTTGTAATTTATCTGTTGCATACTTAGTTTTTAGTCCTG
TAAATGCAAACACAGCATTTTTTACAACTTTCTTTGTTCTTGGTACTTATACTTTGAACTATGA
TGTACATATTTATGGCTTTTGGCTTTTAATATAATGGACTTGCAAGGGCTGCCAGAGGTTCTGA
TATGTAAGAAAACTGCAAAAACAAATATAGACAAATATTTTGATTCTAGAGAACGTCTCAGATG
TGCTTATAAAGCTTCCAAATACAACTCCAGTAAGACATCCCTTTCCCTGCAGGAGTGTGGTCTA
TATTCTTTAGATAGTTGTTTAGTCAAAAGACCAGACAAGTTACAAACTAAGAGAAACAATATTT
CACAACACAGTAAAGTGTGATGAGAGGTCAGGGGAACATCCCAGTAAAAGAGAAGAGTCACAGG
AAGCTCATCTCCTCCCTGGATTCTGGATTAGGAGCTTCTGAATCTTTTCCAGGGATAGGCAGGT
AGCTCACTCTTGGTGCAATTTCTTGAGGATGGGAACATGTAGAGCTGCTGGAAGGAGTAATTCT
GTGCTTGACAAAGGACGATTTCTCCTTTATCGTGACCAGTGCTGCCGATTTCCTGACAGAGGAG
CTTACACTCTGAGCACCTTGTTTTAGCGAACTCTAGCAAAACTTGTTTAGCTTAGCAAAAACAA
ACACACAAAAAACTGAGAACTCTGCTGTTTCAGATATGCCATAACATACATCTGAAACACATGT
GTAACAATCAAAATGGTGGGCTCTAGAATGGTTTTGGAGCTCGAGATCTTCATGGGTTAGACTT
GCTGGTCAGACCCAGGAGCACCTGTGGCTCACACCTTCTGTTCCCCTCCTGGCCTGTGCAGAAT
GTAAACAGCAGACTCATACTCAATGGGCACTACAGGCCTTATCAGACGTTTTATACAAGCCTGG
ATTGCTTAGTAGGGGAATAAGGCATTCTCTGAGGGGGCTTTCCACTTAGATTGAGAATTTTATT
TGAAAAGAATCTGGTTTAAATGGCATTGTGGTCCGAGGTAGCTGCTCTCCCCACTGAGAGCTGA
GCCGAAATATAAGAATAATATATTTGTGCTTCGAGTTGGTGTTTCTTTCAGTGTAATGCATGCA
GTGGTCACAACCCAGTTACTCATAATATTTGGATTGTATTTGTTCGTAGATATGCCCAGAAGAC
TAGAGAATTAGTGTTATATACCATATAGAACTTACTGTCAGTCAACTATAAACAGGCCCAATTA
AAAACTGTTCCATTACTACGCAAACACATATTAGAGGCCTTTGCTGATGACACATTAGCTGGAT
CTTAGCCACCCCAGAAAGGGTTTGATTTGAAGCTGATTGTTGCCAGATATGCATATTGGAATCC
CATCTACCCATAGTTCCTCTGAAGGTGATTTTGTAATTTGCAAAAGGGTATAGGAAAATATACC
TAAAAGCGAATTTGTGGCTGAGAGGATAAACAGAAGCTGTTTGCTCATGTTCTGTGCCCCACAC
CCACCAATACCTAAATCTGTTAAGGAAGACAGAAAATGTTTTCTTTGTGCTCATTGAGTAGTTC
CAGACAGAAGAAGAATATACTCTTTAAAATGTATTTACCTGTTAGTTGGAAGTACCCAGAATTA
TCAGAAACGAATGCAAAAAAAAAAAAAAAAAAAAAAAGCTTACACAGCTTCTTAGCAATTTTTT
TTTTTTTGCCGAAACAATAAATTGCCTTTAGCAGCAGTTTAAAATCCTATCGTGAACAACCTAT
ATTTTCGCCATTTTACAATGGAGAGTTGTGACAAGTACAGGTTATCAAGTTTGCACTTAACTAT
GCCAAAAAAAGTTTGAAGCGCTCTATTCTCAGACATGCTGTATTATTACTTCTCATTCAAGATT
GAAAAATATAAAGGTATCCAAACTCTGTCTTAATGTAAATGTAACTATTTTTCCTTCAAGTGTT
GACTAGGGAGTCGGTTTCTCTCTTAAAGACACTCACTGTACAACTGAAAGCAGCTGTCATATTT
CTGGCAAAATGTGTTTACGTATCTGACAAGTTGTACATTTGTGTATGAACTGACATAAAATGTG
AAAGCCTGTAAGTGTACATGTAGTGGTGTGGTGTTCTGTCTAGAGGATACAACTGAATGTTTTT
AATTTGCTGACTTACAGACACAGGCTGTTTACAAAATGCTAGCTGGAAAGTCTGTAATGTTCAT
GTCATAACTTTTAGTTAATTGCCATTGAGCACCTGTTCTGAGGAGGTGAGATGTGGACTTGTGC
TTATAAACTGGAGAGTTTAGTCATAATCCCTCCTGGCTTTGTGTGAATAGCTTGCTCACTTTGC
TGGCCTTTGAAATGTGTTCTCCGTGATAAGCTATCCATGTGTTTGTGATAAGAGTGCTTGTCAA
CCATGACCATCTTTGAGCCTTCCTAGTCCTCCACCTGGCACAGTATTTGAAATGGCAAAGGATG
TGCTTCATCCTCTAACAGTGTACACTCCCAGAGCTGATATTCTGGATTTTGACTGTGCACATTT
CCTCTAGTTCATGTCTGTAGTCCCTATAGAATGATCTGTAATAAAATAGTATACTGGACTGTGC
ATCAAAGGGATGTAAAATTACAGTATTCCAAAGGTTGAAGTTCTGCTGTTTTGTTATAATGCCT
GATACACATCTTGAATAAAGTCTTAACATTTTTCTTTTAAAAAA

hide sequence

RefSeq Acc Id:

NM_001164732 ⟹ NP_001158204

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	86,213,993 - 86,337,626 (-)	NCBI
GRCh37	2	86,441,116 - 86,565,206 (-)	NCBI
HuRef	2	86,338,580 - 86,462,643 (-)	ENTREZGENE
CHM1_1	2	86,370,561 - 86,494,885 (-)	NCBI
T2T-CHM13v2.0	2	86,216,087 - 86,339,642 (-)	NCBI

Sequence:

show sequence

AGTCTGGCGGCGGCTGCCGTGAGCTGACTGACGTTCCGGGAACGCCGCAGCAGCCCGCGCCGCC
CGCAGCCTAGCCGAGCCGCGCCGCCCGGGCCTCGCCCGCCCGCCTGCCCGCCATGGTGTCATGG
ATCATCTCCAGGCTGGTGGTGCTTATATTTGGCACCCTTTACCCTGCGTATTATTCCTACAAGG
CTGTGAAATCAAAGGACATTAAGGAATATGTCAAATGGATGATGTACTGGATTATATTTGCACT
TTTCACCACAGCAGAGACATTCACAGACATCTTCCTTTGTTGGGACAGGGTGCCTTATCGGAGA
GACTGCGGAGCTTCAGCATGCAGGACCTCACCACCATCAGGGGAGACGGCGCCCCTGCTCCCTC
GGGCCCCCCACCACCGGGGTCTGGGCGGGCCAGCGGCAAACACGGCCAGCCTAAGATGTCCAGG
AGTGCTTCTGAGAGCGCTAGCAGCTCAGGCACCGCCTAGAATCCTTCGATCTCGCTTCAGGAAG
AAAAGTACCTCATCCTCGGCCACCGAAACCACGTGAGTGAGATGAGCCAACAGCACCGGATCCA
CAGAATGTTTCTTCTCTGCCTTAAAGAGCTATTCACTAATAACATAGAAATCCGCAAGCTGGGT
GTGCTTTGAGTGTGCAGCCTCACAAACATGGCCTTTTCTCTCTCCCCTTCCACTTTTAAGGATT
TATTTTTTTCCCCCTTTTCTTTATTTTGCTGGGGAGAGGCTAAAGGGAAAGGTAGTAGGGGCGG
GGGTGGTGACCTTTAAGTCTTCTGAGGTTGGTAATTTTCCACAATTGGATTGTCATTATAGACA
GCAGTGTGTTTTTTAGAAAGATAAGAGAATCACCCCTATGCTGCTGAGATGTACATTTGTAATT
TATCTGTTGCATACTTAGTTTTTAGTCCTGTAAATGCAAACACAGCATTTTTTACAACTTTCTT
TGTTCTTGGTACTTATACTTTGAACTATGATGTACATATTTATGGCTTTTGGCTTTTAATATAA
TGGACTTGCAAGGGCTGCCAGAGGTTCTGATATGTAAGAAAACTGCAAAAACAAATATAGACAA
ATATTTTGATTCTAGAGAACGTCTCAGATGTGCTTATAAAGCTTCCAAATACAACTCCAGTAAG
ACATCCCTTTCCCTGCAGGAGTGTGGTCTATATTCTTTAGATAGTTGTTTAGTCAAAAGACCAG
ACAAGTTACAAACTAAGAGAAACAATATTTCACAACACAGTAAAGTGTGATGAGAGGTCAGGGG
AACATCCCAGTAAAAGAGAAGAGTCACAGGAAGCTCATCTCCTCCCTGGATTCTGGATTAGGAG
CTTCTGAATCTTTTCCAGGGATAGGCAGGTAGCTCACTCTTGGTGCAATTTCTTGAGGATGGGA
ACATGTAGAGCTGCTGGAAGGAGTAATTCTGTGCTTGACAAAGGACGATTTCTCCTTTATCGTG
ACCAGTGCTGCCGATTTCCTGACAGAGGAGCTTACACTCTGAGCACCTTGTTTTAGCGAACTCT
AGCAAAACTTGTTTAGCTTAGCAAAAACAAACACACAAAAAACTGAGAACTCTGCTGTTTCAGA
TATGCCATAACATACATCTGAAACACATGTGTAACAATCAAAATGGTGGGCTCTAGAATGGTTT
TGGAGCTCGAGATCTTCATGGGTTAGACTTGCTGGTCAGACCCAGGAGCACCTGTGGCTCACAC
CTTCTGTTCCCCTCCTGGCCTGTGCAGAATGTAAACAGCAGACTCATACTCAATGGGCACTACA
GGCCTTATCAGACGTTTTATACAAGCCTGGATTGCTTAGTAGGGGAATAAGGCATTCTCTGAGG
GGGCTTTCCACTTAGATTGAGAATTTTATTTGAAAAGAATCTGGTTTAAATGGCATTGTGGTCC
GAGGTAGCTGCTCTCCCCACTGAGAGCTGAGCCGAAATATAAGAATAATATATTTGTGCTTCGA
GTTGGTGTTTCTTTCAGTGTAATGCATGCAGTGGTCACAACCCAGTTACTCATAATATTTGGAT
TGTATTTGTTCGTAGATATGCCCAGAAGACTAGAGAATTAGTGTTATATACCATATAGAACTTA
CTGTCAGTCAACTATAAACAGGCCCAATTAAAAACTGTTCCATTACTACGCAAACACATATTAG
AGGCCTTTGCTGATGACACATTAGCTGGATCTTAGCCACCCCAGAAAGGGTTTGATTTGAAGCT
GATTGTTGCCAGATATGCATATTGGAATCCCATCTACCCATAGTTCCTCTGAAGGTGATTTTGT
AATTTGCAAAAGGGTATAGGAAAATATACCTAAAAGCGAATTTGTGGCTGAGAGGATAAACAGA
AGCTGTTTGCTCATGTTCTGTGCCCCACACCCACCAATACCTAAATCTGTTAAGGAAGACAGAA
AATGTTTTCTTTGTGCTCATTGAGTAGTTCCAGACAGAAGAAGAATATACTCTTTAAAATGTAT
TTACCTGTTAGTTGGAAGTACCCAGAATTATCAGAAACGAATGCAAAAAAAAAAAAAAAAAAAA
AAAGCTTACACAGCTTCTTAGCAATTTTTTTTTTTTTGCCGAAACAATAAATTGCCTTTAGCAG
CAGTTTAAAATCCTATCGTGAACAACCTATATTTTCGCCATTTTACAATGGAGAGTTGTGACAA
GTACAGGTTATCAAGTTTGCACTTAACTATGCCAAAAAAAGTTTGAAGCGCTCTATTCTCAGAC
ATGCTGTATTATTACTTCTCATTCAAGATTGAAAAATATAAAGGTATCCAAACTCTGTCTTAAT
GTAAATGTAACTATTTTTCCTTCAAGTGTTGACTAGGGAGTCGGTTTCTCTCTTAAAGACACTC
ACTGTACAACTGAAAGCAGCTGTCATATTTCTGGCAAAATGTGTTTACGTATCTGACAAGTTGT
ACATTTGTGTATGAACTGACATAAAATGTGAAAGCCTGTAAGTGTACATGTAGTGGTGTGGTGT
TCTGTCTAGAGGATACAACTGAATGTTTTTAATTTGCTGACTTACAGACACAGGCTGTTTACAA
AATGCTAGCTGGAAAGTCTGTAATGTTCATGTCATAACTTTTAGTTAATTGCCATTGAGCACCT
GTTCTGAGGAGGTGAGATGTGGACTTGTGCTTATAAACTGGAGAGTTTAGTCATAATCCCTCCT
GGCTTTGTGTGAATAGCTTGCTCACTTTGCTGGCCTTTGAAATGTGTTCTCCGTGATAAGCTAT
CCATGTGTTTGTGATAAGAGTGCTTGTCAACCATGACCATCTTTGAGCCTTCCTAGTCCTCCAC
CTGGCACAGTATTTGAAATGGCAAAGGATGTGCTTCATCCTCTAACAGTGTACACTCCCAGAGC
TGATATTCTGGATTTTGACTGTGCACATTTCCTCTAGTTCATGTCTGTAGTCCCTATAGAATGA
TCTGTAATAAAATAGTATACTGGACTGTGCATCAAAGGGATGTAAAATTACAGTATTCCAAAGG
TTGAAGTTCTGCTGTTTTGTTATAATGCCTGATACACATCTTGAATAAAGTCTTAACATTTTTC
TTTTAAAAAA

hide sequence

RefSeq Acc Id:

NM_001371279 ⟹ NP_001358208

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	86,213,993 - 86,337,626 (-)	NCBI
T2T-CHM13v2.0	2	86,216,087 - 86,339,642 (-)	NCBI

Sequence:

show sequence

AGTCTGGCGGCGGCTGCCGTGAGCTGACTGACGTTCCGGGAACGCCGCAGCAGCCCGCGCCGCC
CGCAGCCTAGCCGAGCCGCGCCGCCCGGGCCTCGCCCGCCCGCCTGCCCGCCATGGTGTCATGG
ATCATCTCCAGGCTGGTGGTGCTTATATTTGGCACCCTTTACCCTGCGTATTATTCCTACAAGG
CTGTGAAATCAAAGGACATTAAGGAATATGTCAAATGGATGATGTACTGGATTATATTTGCACT
TTTCACCACAGCAGAGACATTCACAGACATCTTCCTTTGTTGGTTTCCATTCTATTATGAACTA
AAAATAGCATTTGTAGCCTGGCTGCTGTCTCCCTACACAAAAGGCTCCAGCCTCCTGTACAGGA
AGTTTGTACATCCCACGCTATCTTCAAAAGAAAAGGAAATCGATGATTGTCTGGTCCAAGCAAA
AGACCGAAGTTACGATGCCCTTGTGCACTTCGGGAAGCGGGGCTTGAACGTGGCCGCCACAGCG
GCTGTGATGGCTGCTTCCAAGGGACAGGGTGCCTTATCGGAGAGACTGCGGAGCTTCAGCATGC
AGGACCTCACCACCATCAGGGGAGACGGCGCCCCTGCTCCCTCGGGCCCCCCACCACCGGGGTC
TGGGCGGGCCAGCGGCAAACACGGCCAGCCTAAGATGTCCAGGAGTGCTTCTGAGAGCGCTAGC
AGCTCAGTGTGTACCTGCTGCTCCACCTGCAGGACCTGGAAAGTGGTTGAGGGAGATGTGAATG
AGGGTGGTATGAAGGCATGGGAGCCCCACCAGGTCCAAAACCCATTGGCGTTTTCTGACGACGA
GGAGGAAGACCTGCTGGATTTCATGTACAAGTATAAAGCACCTCGAAGGATGGAATTGCCCCTG
GAGGCACCGCCTAGAATCCTTCGATCTCGCTTCAGGAAGAAAAGTACCTCATCCTCGGCCACCG
AAACCACGTGAGTGAGATGAGCCAACAGCACCGGATCCACAGAATGTTTCTTCTCTGCCTTAAA
GAGCTATTCACTAATAACATAGAAATCCGCAAGCTGGGTGTGCTTTGAGTGTGCAGCCTCACAA
ACATGGCCTTTTCTCTCTCCCCTTCCACTTTTAAGGATTTATTTTTTTCCCCCTTTTCTTTATT
TTGCTGGGGAGAGGCTAAAGGGAAAGGTAGTAGGGGCGGGGGTGGTGACCTTTAAGTCTTCTGA
GGTTGGTAATTTTCCACAATTGGATTGTCATTATAGACAGCAGTGTGTTTTTTAGAAAGATAAG
AGAATCACCCCTATGCTGCTGAGATGTACATTTGTAATTTATCTGTTGCATACTTAGTTTTTAG
TCCTGTAAATGCAAACACAGCATTTTTTACAACTTTCTTTGTTCTTGGTACTTATACTTTGAAC
TATGATGTACATATTTATGGCTTTTGGCTTTTAATATAATGGACTTGCAAGGGCTGCCAGAGGT
TCTGATATGTAAGAAAACTGCAAAAACAAATATAGACAAATATTTTGATTCTAGAGAACGTCTC
AGATGTGCTTATAAAGCTTCCAAATACAACTCCAGTAAGACATCCCTTTCCCTGCAGGAGTGTG
GTCTATATTCTTTAGATAGTTGTTTAGTCAAAAGACCAGACAAGTTACAAACTAAGAGAAACAA
TATTTCACAACACAGTAAAGTGTGATGAGAGGTCAGGGGAACATCCCAGTAAAAGAGAAGAGTC
ACAGGAAGCTCATCTCCTCCCTGGATTCTGGATTAGGAGCTTCTGAATCTTTTCCAGGGATAGG
CAGGTAGCTCACTCTTGGTGCAATTTCTTGAGGATGGGAACATGTAGAGCTGCTGGAAGGAGTA
ATTCTGTGCTTGACAAAGGACGATTTCTCCTTTATCGTGACCAGTGCTGCCGATTTCCTGACAG
AGGAGCTTACACTCTGAGCACCTTGTTTTAGCGAACTCTAGCAAAACTTGTTTAGCTTAGCAAA
AACAAACACACAAAAAACTGAGAACTCTGCTGTTTCAGATATGCCATAACATACATCTGAAACA
CATGTGTAACAATCAAAATGGTGGGCTCTAGAATGGTTTTGGAGCTCGAGATCTTCATGGGTTA
GACTTGCTGGTCAGACCCAGGAGCACCTGTGGCTCACACCTTCTGTTCCCCTCCTGGCCTGTGC
AGAATGTAAACAGCAGACTCATACTCAATGGGCACTACAGGCCTTATCAGACGTTTTATACAAG
CCTGGATTGCTTAGTAGGGGAATAAGGCATTCTCTGAGGGGGCTTTCCACTTAGATTGAGAATT
TTATTTGAAAAGAATCTGGTTTAAATGGCATTGTGGTCCGAGGTAGCTGCTCTCCCCACTGAGA
GCTGAGCCGAAATATAAGAATAATATATTTGTGCTTCGAGTTGGTGTTTCTTTCAGTGTAATGC
ATGCAGTGGTCACAACCCAGTTACTCATAATATTTGGATTGTATTTGTTCGTAGATATGCCCAG
AAGACTAGAGAATTAGTGTTATATACCATATAGAACTTACTGTCAGTCAACTATAAACAGGCCC
AATTAAAAACTGTTCCATTACTACGCAAACACATATTAGAGGCCTTTGCTGATGACACATTAGC
TGGATCTTAGCCACCCCAGAAAGGGTTTGATTTGAAGCTGATTGTTGCCAGATATGCATATTGG
AATCCCATCTACCCATAGTTCCTCTGAAGGTGATTTTGTAATTTGCAAAAGGGTATAGGAAAAT
ATACCTAAAAGCGAATTTGTGGCTGAGAGGATAAACAGAAGCTGTTTGCTCATGTTCTGTGCCC
CACACCCACCAATACCTAAATCTGTTAAGGAAGACAGAAAATGTTTTCTTTGTGCTCATTGAGT
AGTTCCAGACAGAAGAAGAATATACTCTTTAAAATGTATTTACCTGTTAGTTGGAAGTACCCAG
AATTATCAGAAACGAATGCAAAAAAAAAAAAAAAAAAAAAAAGCTTACACAGCTTCTTAGCAAT
TTTTTTTTTTTTGCCGAAACAATAAATTGCCTTTAGCAGCAGTTTAAAATCCTATCGTGAACAA
CCTATATTTTCGCCATTTTACAATGGAGAGTTGTGACAAGTACAGGTTATCAAGTTTGCACTTA
ACTATGCCAAAAAAAGTTTGAAGCGCTCTATTCTCAGACATGCTGTATTATTACTTCTCATTCA
AGATTGAAAAATATAAAGGTATCCAAACTCTGTCTTAATGTAAATGTAACTATTTTTCCTTCAA
GTGTTGACTAGGGAGTCGGTTTCTCTCTTAAAGACACTCACTGTACAACTGAAAGCAGCTGTCA
TATTTCTGGCAAAATGTGTTTACGTATCTGACAAGTTGTACATTTGTGTATGAACTGACATAAA
ATGTGAAAGCCTGTAAGTGTACATGTAGTGGTGTGGTGTTCTGTCTAGAGGATACAACTGAATG
TTTTTAATTTGCTGACTTACAGACACAGGCTGTTTACAAAATGCTAGCTGGAAAGTCTGTAATG
TTCATGTCATAACTTTTAGTTAATTGCCATTGAGCACCTGTTCTGAGGAGGTGAGATGTGGACT
TGTGCTTATAAACTGGAGAGTTTAGTCATAATCCCTCCTGGCTTTGTGTGAATAGCTTGCTCAC
TTTGCTGGCCTTTGAAATGTGTTCTCCGTGATAAGCTATCCATGTGTTTGTGATAAGAGTGCTT
GTCAACCATGACCATCTTTGAGCCTTCCTAGTCCTCCACCTGGCACAGTATTTGAAATGGCAAA
GGATGTGCTTCATCCTCTAACAGTGTACACTCCCAGAGCTGATATTCTGGATTTTGACTGTGCA
CATTTCCTCTAGTTCATGTCTGTAGTCCCTATAGAATGATCTGTAATAAAATAGTATACTGGAC
TGTGCATCAAAGGGATGTAAAATTACAGTATTCCAAAGGTTGAAGTTCTGCTGTTTTGTTATAA
TGCCTGATACACATCTTGAATAAAGTCTTAACATTTTTCTTTTAAAAAA

hide sequence

RefSeq Acc Id:

NM_001371280 ⟹ NP_001358209

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	86,213,993 - 86,337,626 (-)	NCBI
T2T-CHM13v2.0	2	86,216,087 - 86,339,642 (-)	NCBI

Sequence:

show sequence

AGTCTGGCGGCGGCTGCCGTGAGCTGACTGACGTTCCGGGAACGCCGCAGCAGCCCGCGCCGCC
CGCAGCCTAGCCGAGCCGCGCCGCCCGGGCCTCGCCCGCCCGCCTGCCCGCCATGGTGTCATGG
ATCATCTCCAGGCTGGTGGTGCTTATATTTGGCACCCTTTACCCTGCGTATTATTCCTACAAGG
CTGTGAAATCAAAGGACATTAAGGAATATGTCAAATGGATGATGTACTGGATTATATTTGCACT
TTTCACCACAGCAGAGACATTCACAGACATCTTCCTTTGTTGGTTTCCATTCTATTATGAACTA
AAAATAGCATTTGTAGCCTGGCTGCTGTCTCCCTACACAAAAGGCTCCAGCCTCCTGTACAGGA
AGTTTGTACATCCCACGCTATCTTCAAAAGAAAAGGAAATCGATGATTGTCTGGTCCAAGCAAA
AGACCGAAGTTACGATGCCCTTGTGCACTTCGGGAAGCGGGGCTTGAACGTGGCCGCCACAGCG
GCTGTGATGGCTGCTTCCAAGGCACCGCCTAGAATCCTTCGATCTCGCTTCAGGAAGAAAAGTA
CCTCATCCTCGGCCACCGAAACCACGTGAGTGAGATGAGCCAACAGCACCGGATCCACAGAATG
TTTCTTCTCTGCCTTAAAGAGCTATTCACTAATAACATAGAAATCCGCAAGCTGGGTGTGCTTT
GAGTGTGCAGCCTCACAAACATGGCCTTTTCTCTCTCCCCTTCCACTTTTAAGGATTTATTTTT
TTCCCCCTTTTCTTTATTTTGCTGGGGAGAGGCTAAAGGGAAAGGTAGTAGGGGCGGGGGTGGT
GACCTTTAAGTCTTCTGAGGTTGGTAATTTTCCACAATTGGATTGTCATTATAGACAGCAGTGT
GTTTTTTAGAAAGATAAGAGAATCACCCCTATGCTGCTGAGATGTACATTTGTAATTTATCTGT
TGCATACTTAGTTTTTAGTCCTGTAAATGCAAACACAGCATTTTTTACAACTTTCTTTGTTCTT
GGTACTTATACTTTGAACTATGATGTACATATTTATGGCTTTTGGCTTTTAATATAATGGACTT
GCAAGGGCTGCCAGAGGTTCTGATATGTAAGAAAACTGCAAAAACAAATATAGACAAATATTTT
GATTCTAGAGAACGTCTCAGATGTGCTTATAAAGCTTCCAAATACAACTCCAGTAAGACATCCC
TTTCCCTGCAGGAGTGTGGTCTATATTCTTTAGATAGTTGTTTAGTCAAAAGACCAGACAAGTT
ACAAACTAAGAGAAACAATATTTCACAACACAGTAAAGTGTGATGAGAGGTCAGGGGAACATCC
CAGTAAAAGAGAAGAGTCACAGGAAGCTCATCTCCTCCCTGGATTCTGGATTAGGAGCTTCTGA
ATCTTTTCCAGGGATAGGCAGGTAGCTCACTCTTGGTGCAATTTCTTGAGGATGGGAACATGTA
GAGCTGCTGGAAGGAGTAATTCTGTGCTTGACAAAGGACGATTTCTCCTTTATCGTGACCAGTG
CTGCCGATTTCCTGACAGAGGAGCTTACACTCTGAGCACCTTGTTTTAGCGAACTCTAGCAAAA
CTTGTTTAGCTTAGCAAAAACAAACACACAAAAAACTGAGAACTCTGCTGTTTCAGATATGCCA
TAACATACATCTGAAACACATGTGTAACAATCAAAATGGTGGGCTCTAGAATGGTTTTGGAGCT
CGAGATCTTCATGGGTTAGACTTGCTGGTCAGACCCAGGAGCACCTGTGGCTCACACCTTCTGT
TCCCCTCCTGGCCTGTGCAGAATGTAAACAGCAGACTCATACTCAATGGGCACTACAGGCCTTA
TCAGACGTTTTATACAAGCCTGGATTGCTTAGTAGGGGAATAAGGCATTCTCTGAGGGGGCTTT
CCACTTAGATTGAGAATTTTATTTGAAAAGAATCTGGTTTAAATGGCATTGTGGTCCGAGGTAG
CTGCTCTCCCCACTGAGAGCTGAGCCGAAATATAAGAATAATATATTTGTGCTTCGAGTTGGTG
TTTCTTTCAGTGTAATGCATGCAGTGGTCACAACCCAGTTACTCATAATATTTGGATTGTATTT
GTTCGTAGATATGCCCAGAAGACTAGAGAATTAGTGTTATATACCATATAGAACTTACTGTCAG
TCAACTATAAACAGGCCCAATTAAAAACTGTTCCATTACTACGCAAACACATATTAGAGGCCTT
TGCTGATGACACATTAGCTGGATCTTAGCCACCCCAGAAAGGGTTTGATTTGAAGCTGATTGTT
GCCAGATATGCATATTGGAATCCCATCTACCCATAGTTCCTCTGAAGGTGATTTTGTAATTTGC
AAAAGGGTATAGGAAAATATACCTAAAAGCGAATTTGTGGCTGAGAGGATAAACAGAAGCTGTT
TGCTCATGTTCTGTGCCCCACACCCACCAATACCTAAATCTGTTAAGGAAGACAGAAAATGTTT
TCTTTGTGCTCATTGAGTAGTTCCAGACAGAAGAAGAATATACTCTTTAAAATGTATTTACCTG
TTAGTTGGAAGTACCCAGAATTATCAGAAACGAATGCAAAAAAAAAAAAAAAAAAAAAAAGCTT
ACACAGCTTCTTAGCAATTTTTTTTTTTTTGCCGAAACAATAAATTGCCTTTAGCAGCAGTTTA
AAATCCTATCGTGAACAACCTATATTTTCGCCATTTTACAATGGAGAGTTGTGACAAGTACAGG
TTATCAAGTTTGCACTTAACTATGCCAAAAAAAGTTTGAAGCGCTCTATTCTCAGACATGCTGT
ATTATTACTTCTCATTCAAGATTGAAAAATATAAAGGTATCCAAACTCTGTCTTAATGTAAATG
TAACTATTTTTCCTTCAAGTGTTGACTAGGGAGTCGGTTTCTCTCTTAAAGACACTCACTGTAC
AACTGAAAGCAGCTGTCATATTTCTGGCAAAATGTGTTTACGTATCTGACAAGTTGTACATTTG
TGTATGAACTGACATAAAATGTGAAAGCCTGTAAGTGTACATGTAGTGGTGTGGTGTTCTGTCT
AGAGGATACAACTGAATGTTTTTAATTTGCTGACTTACAGACACAGGCTGTTTACAAAATGCTA
GCTGGAAAGTCTGTAATGTTCATGTCATAACTTTTAGTTAATTGCCATTGAGCACCTGTTCTGA
GGAGGTGAGATGTGGACTTGTGCTTATAAACTGGAGAGTTTAGTCATAATCCCTCCTGGCTTTG
TGTGAATAGCTTGCTCACTTTGCTGGCCTTTGAAATGTGTTCTCCGTGATAAGCTATCCATGTG
TTTGTGATAAGAGTGCTTGTCAACCATGACCATCTTTGAGCCTTCCTAGTCCTCCACCTGGCAC
AGTATTTGAAATGGCAAAGGATGTGCTTCATCCTCTAACAGTGTACACTCCCAGAGCTGATATT
CTGGATTTTGACTGTGCACATTTCCTCTAGTTCATGTCTGTAGTCCCTATAGAATGATCTGTAA
TAAAATAGTATACTGGACTGTGCATCAAAGGGATGTAAAATTACAGTATTCCAAAGGTTGAAGT
TCTGCTGTTTTGTTATAATGCCTGATACACATCTTGAATAAAGTCTTAACATTTTTCTTTTAAA
AAA

hide sequence

RefSeq Acc Id:

NM_001410855 ⟹ NP_001397784

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	86,213,993 - 86,337,626 (-)	NCBI
T2T-CHM13v2.0	2	86,216,087 - 86,339,642 (-)	NCBI

RefSeq Acc Id:

NM_001410856 ⟹ NP_001397785

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	86,213,993 - 86,337,626 (-)	NCBI
T2T-CHM13v2.0	2	86,216,087 - 86,339,642 (-)	NCBI

RefSeq Acc Id:

NM_022912 ⟹ NP_075063

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	86,213,993 - 86,337,626 (-)	NCBI
GRCh37	2	86,441,116 - 86,565,206 (-)	ENTREZGENE
GRCh37	2	86,441,116 - 86,565,206 (-)	NCBI
Build 36	2	86,294,633 - 86,418,288 (-)	NCBI Archive
HuRef	2	86,338,580 - 86,462,643 (-)	ENTREZGENE
CHM1_1	2	86,370,561 - 86,494,885 (-)	NCBI
T2T-CHM13v2.0	2	86,216,087 - 86,339,642 (-)	NCBI

Sequence:

show sequence

AGTCTGGCGGCGGCTGCCGTGAGCTGACTGACGTTCCGGGAACGCCGCAGCAGCCCGCGCCGCC
CGCAGCCTAGCCGAGCCGCGCCGCCCGGGCCTCGCCCGCCCGCCTGCCCGCCATGGTGTCATGG
ATCATCTCCAGGCTGGTGGTGCTTATATTTGGCACCCTTTACCCTGCGTATTATTCCTACAAGG
CTGTGAAATCAAAGGACATTAAGGAATATGTCAAATGGATGATGTACTGGATTATATTTGCACT
TTTCACCACAGCAGAGACATTCACAGACATCTTCCTTTGTTGGTTTCCATTCTATTATGAACTA
AAAATAGCATTTGTAGCCTGGCTGCTGTCTCCCTACACAAAAGGCTCCAGCCTCCTGTACAGGA
AGTTTGTACATCCCACGCTATCTTCAAAAGAAAAGGAAATCGATGATTGTCTGGTCCAAGCAAA
AGACCGAAGTTACGATGCCCTTGTGCACTTCGGGAAGCGGGGCTTGAACGTGGCCGCCACAGCG
GCTGTGATGGCTGCTTCCAAGGGACAGGGTGCCTTATCGGAGAGACTGCGGAGCTTCAGCATGC
AGGACCTCACCACCATCAGGGGAGACGGCGCCCCTGCTCCCTCGGGCCCCCCACCACCGGGGTC
TGGGCGGGCCAGCGGCAAACACGGCCAGCCTAAGATGTCCAGGAGTGCTTCTGAGAGCGCTAGC
AGCTCAGGCACCGCCTAGAATCCTTCGATCTCGCTTCAGGAAGAAAAGTACCTCATCCTCGGCC
ACCGAAACCACGTGAGTGAGATGAGCCAACAGCACCGGATCCACAGAATGTTTCTTCTCTGCCT
TAAAGAGCTATTCACTAATAACATAGAAATCCGCAAGCTGGGTGTGCTTTGAGTGTGCAGCCTC
ACAAACATGGCCTTTTCTCTCTCCCCTTCCACTTTTAAGGATTTATTTTTTTCCCCCTTTTCTT
TATTTTGCTGGGGAGAGGCTAAAGGGAAAGGTAGTAGGGGCGGGGGTGGTGACCTTTAAGTCTT
CTGAGGTTGGTAATTTTCCACAATTGGATTGTCATTATAGACAGCAGTGTGTTTTTTAGAAAGA
TAAGAGAATCACCCCTATGCTGCTGAGATGTACATTTGTAATTTATCTGTTGCATACTTAGTTT
TTAGTCCTGTAAATGCAAACACAGCATTTTTTACAACTTTCTTTGTTCTTGGTACTTATACTTT
GAACTATGATGTACATATTTATGGCTTTTGGCTTTTAATATAATGGACTTGCAAGGGCTGCCAG
AGGTTCTGATATGTAAGAAAACTGCAAAAACAAATATAGACAAATATTTTGATTCTAGAGAACG
TCTCAGATGTGCTTATAAAGCTTCCAAATACAACTCCAGTAAGACATCCCTTTCCCTGCAGGAG
TGTGGTCTATATTCTTTAGATAGTTGTTTAGTCAAAAGACCAGACAAGTTACAAACTAAGAGAA
ACAATATTTCACAACACAGTAAAGTGTGATGAGAGGTCAGGGGAACATCCCAGTAAAAGAGAAG
AGTCACAGGAAGCTCATCTCCTCCCTGGATTCTGGATTAGGAGCTTCTGAATCTTTTCCAGGGA
TAGGCAGGTAGCTCACTCTTGGTGCAATTTCTTGAGGATGGGAACATGTAGAGCTGCTGGAAGG
AGTAATTCTGTGCTTGACAAAGGACGATTTCTCCTTTATCGTGACCAGTGCTGCCGATTTCCTG
ACAGAGGAGCTTACACTCTGAGCACCTTGTTTTAGCGAACTCTAGCAAAACTTGTTTAGCTTAG
CAAAAACAAACACACAAAAAACTGAGAACTCTGCTGTTTCAGATATGCCATAACATACATCTGA
AACACATGTGTAACAATCAAAATGGTGGGCTCTAGAATGGTTTTGGAGCTCGAGATCTTCATGG
GTTAGACTTGCTGGTCAGACCCAGGAGCACCTGTGGCTCACACCTTCTGTTCCCCTCCTGGCCT
GTGCAGAATGTAAACAGCAGACTCATACTCAATGGGCACTACAGGCCTTATCAGACGTTTTATA
CAAGCCTGGATTGCTTAGTAGGGGAATAAGGCATTCTCTGAGGGGGCTTTCCACTTAGATTGAG
AATTTTATTTGAAAAGAATCTGGTTTAAATGGCATTGTGGTCCGAGGTAGCTGCTCTCCCCACT
GAGAGCTGAGCCGAAATATAAGAATAATATATTTGTGCTTCGAGTTGGTGTTTCTTTCAGTGTA
ATGCATGCAGTGGTCACAACCCAGTTACTCATAATATTTGGATTGTATTTGTTCGTAGATATGC
CCAGAAGACTAGAGAATTAGTGTTATATACCATATAGAACTTACTGTCAGTCAACTATAAACAG
GCCCAATTAAAAACTGTTCCATTACTACGCAAACACATATTAGAGGCCTTTGCTGATGACACAT
TAGCTGGATCTTAGCCACCCCAGAAAGGGTTTGATTTGAAGCTGATTGTTGCCAGATATGCATA
TTGGAATCCCATCTACCCATAGTTCCTCTGAAGGTGATTTTGTAATTTGCAAAAGGGTATAGGA
AAATATACCTAAAAGCGAATTTGTGGCTGAGAGGATAAACAGAAGCTGTTTGCTCATGTTCTGT
GCCCCACACCCACCAATACCTAAATCTGTTAAGGAAGACAGAAAATGTTTTCTTTGTGCTCATT
GAGTAGTTCCAGACAGAAGAAGAATATACTCTTTAAAATGTATTTACCTGTTAGTTGGAAGTAC
CCAGAATTATCAGAAACGAATGCAAAAAAAAAAAAAAAAAAAAAAAGCTTACACAGCTTCTTAG
CAATTTTTTTTTTTTTGCCGAAACAATAAATTGCCTTTAGCAGCAGTTTAAAATCCTATCGTGA
ACAACCTATATTTTCGCCATTTTACAATGGAGAGTTGTGACAAGTACAGGTTATCAAGTTTGCA
CTTAACTATGCCAAAAAAAGTTTGAAGCGCTCTATTCTCAGACATGCTGTATTATTACTTCTCA
TTCAAGATTGAAAAATATAAAGGTATCCAAACTCTGTCTTAATGTAAATGTAACTATTTTTCCT
TCAAGTGTTGACTAGGGAGTCGGTTTCTCTCTTAAAGACACTCACTGTACAACTGAAAGCAGCT
GTCATATTTCTGGCAAAATGTGTTTACGTATCTGACAAGTTGTACATTTGTGTATGAACTGACA
TAAAATGTGAAAGCCTGTAAGTGTACATGTAGTGGTGTGGTGTTCTGTCTAGAGGATACAACTG
AATGTTTTTAATTTGCTGACTTACAGACACAGGCTGTTTACAAAATGCTAGCTGGAAAGTCTGT
AATGTTCATGTCATAACTTTTAGTTAATTGCCATTGAGCACCTGTTCTGAGGAGGTGAGATGTG
GACTTGTGCTTATAAACTGGAGAGTTTAGTCATAATCCCTCCTGGCTTTGTGTGAATAGCTTGC
TCACTTTGCTGGCCTTTGAAATGTGTTCTCCGTGATAAGCTATCCATGTGTTTGTGATAAGAGT
GCTTGTCAACCATGACCATCTTTGAGCCTTCCTAGTCCTCCACCTGGCACAGTATTTGAAATGG
CAAAGGATGTGCTTCATCCTCTAACAGTGTACACTCCCAGAGCTGATATTCTGGATTTTGACTG
TGCACATTTCCTCTAGTTCATGTCTGTAGTCCCTATAGAATGATCTGTAATAAAATAGTATACT
GGACTGTGCATCAAAGGGATGTAAAATTACAGTATTCCAAAGGTTGAAGTTCTGCTGTTTTGTT
ATAATGCCTGATACACATCTTGAATAAAGTCTTAACATTTTTCTTTTAAAAAA

hide sequence

RefSeq Acc Id:

XM_005264504 ⟹ XP_005264561

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	86,213,993 - 86,297,687 (-)	NCBI

Sequence:

show sequence

AGAACCAGTGAATGAGGAGGTAGGTTGCTTTTATGATTCCACTGAGACAGTGACGCTCCTCCCC
ATGGCTTCAGAAAACATCCACCTTGGAAAAGCTTATATTTGGCACCCTTTACCCTGCGTATTAT
TCCTACAAGGCTGTGAAATCAAAGGACATTAAGGAATATGTCAAATGGATGATGTACTGGATTA
TATTTGCACTTTTCACCACAGCAGAGACATTCACAGACATCTTCCTTTGTTGGTTTCCATTCTA
TTATGAACTAAAAATAGCATTTGTAGCCTGGCTGCTGTCTCCCTACACAAAAGGCTCCAGCCTC
CTGTACAGGAAGTTTGTACATCCCACGCTATCTTCAAAAGAAAAGGAAATCGATGATTGTCTGG
TCCAAGCAAAAGACCGAAGTTACGATGCCCTTGTGCACTTCGGGAAGCGGGGCTTGAACGTGGC
CGCCACAGCGGCTGTGATGGCTGCTTCCAAGGGACAGGGTGCCTTATCGGAGAGACTGCGGAGC
TTCAGCATGCAGGACCTCACCACCATCAGGGGAGACGGCGCCCCTGCTCCCTCGGGCCCCCCAC
CACCGGGGTCTGGGCGGGCCAGCGGCAAACACGGCCAGCCTAAGATGTCCAGGAGTGCTTCTGA
GAGCGCTAGCAGCTCAGTGTGTACCTGCTGCTCCACCTGCAGGACCTGGAAAGTGGTTGAGGGA
GATGTGAATGAGGGTGGTATGAAGGCATGGGAGCCCCACCAGGTCCAAAACCCATTGGCGTTTT
CTGACGACGAGGAGGAAGACCTGCTGGATTTCATGTACAAGTATAAAGCACCTCGAAGGATGGA
ATTGCCCCTGGAGGCACCGCCTAGAATCCTTCGATCTCGCTTCAGGAAGAAAAGTACCTCATCC
TCGGCCACCGAAACCACGTGAGTGAGATGAGCCAACAGCACCGGATCCACAGAATGTTTCTTCT
CTGCCTTAAAGAGCTATTCACTAATAACATAGAAATCCGCAAGCTGGGTGTGCTTTGAGTGTGC
AGCCTCACAAACATGGCCTTTTCTCTCTCCCCTTCCACTTTTAAGGATTTATTTTTTTCCCCCT
TTTCTTTATTTTGCTGGGGAGAGGCTAAAGGGAAAGGTAGTAGGGGCGGGGGTGGTGACCTTTA
AGTCTTCTGAGGTTGGTAATTTTCCACAATTGGATTGTCATTATAGACAGCAGTGTGTTTTTTA
GAAAGATAAGAGAATCACCCCTATGCTGCTGAGATGTACATTTGTAATTTATCTGTTGCATACT
TAGTTTTTAGTCCTGTAAATGCAAACACAGCATTTTTTACAACTTTCTTTGTTCTTGGTACTTA
TACTTTGAACTATGATGTACATATTTATGGCTTTTGGCTTTTAATATAATGGACTTGCAAGGGC
TGCCAGAGGTTCTGATATGTAAGAAAACTGCAAAAACAAATATAGACAAATATTTTGATTCTAG
AGAACGTCTCAGATGTGCTTATAAAGCTTCCAAATACAACTCCAGTAAGACATCCCTTTCCCTG
CAGGAGTGTGGTCTATATTCTTTAGATAGTTGTTTAGTCAAAAGACCAGACAAGTTACAAACTA
AGAGAAACAATATTTCACAACACAGTAAAGTGTGATGAGAGGTCAGGGGAACATCCCAGTAAAA
GAGAAGAGTCACAGGAAGCTCATCTCCTCCCTGGATTCTGGATTAGGAGCTTCTGAATCTTTTC
CAGGGATAGGCAGGTAGCTCACTCTTGGTGCAATTTCTTGAGGATGGGAACATGTAGAGCTGCT
GGAAGGAGTAATTCTGTGCTTGACAAAGGACGATTTCTCCTTTATCGTGACCAGTGCTGCCGAT
TTCCTGACAGAGGAGCTTACACTCTGAGCACCTTGTTTTAGCGAACTCTAGCAAAACTTGTTTA
GCTTAGCAAAAACAAACACACAAAAAACTGAGAACTCTGCTGTTTCAGATATGCCATAACATAC
ATCTGAAACACATGTGTAACAATCAAAATGGTGGGCTCTAGAATGGTTTTGGAGCTCGAGATCT
TCATGGGTTAGACTTGCTGGTCAGACCCAGGAGCACCTGTGGCTCACACCTTCTGTTCCCCTCC
TGGCCTGTGCAGAATGTAAACAGCAGACTCATACTCAATGGGCACTACAGGCCTTATCAGACGT
TTTATACAAGCCTGGATTGCTTAGTAGGGGAATAAGGCATTCTCTGAGGGGGCTTTCCACTTAG
ATTGAGAATTTTATTTGAAAAGAATCTGGTTTAAATGGCATTGTGGTCCGAGGTAGCTGCTCTC
CCCACTGAGAGCTGAGCCGAAATATAAGAATAATATATTTGTGCTTCGAGTTGGTGTTTCTTTC
AGTGTAATGCATGCAGTGGTCACAACCCAGTTACTCATAATATTTGGATTGTATTTGTTCGTAG
ATATGCCCAGAAGACTAGAGAATTAGTGTTATATACCATATAGAACTTACTGTCAGTCAACTAT
AAACAGGCCCAATTAAAAACTGTTCCATTACTACGCAAACACATATTAGAGGCCTTTGCTGATG
ACACATTAGCTGGATCTTAGCCACCCCAGAAAGGGTTTGATTTGAAGCTGATTGTTGCCAGATA
TGCATATTGGAATCCCATCTACCCATAGTTCCTCTGAAGGTGATTTTGTAATTTGCAAAAGGGT
ATAGGAAAATATACCTAAAAGCGAATTTGTGGCTGAGAGGATAAACAGAAGCTGTTTGCTCATG
TTCTGTGCCCCACACCCACCAATACCTAAATCTGTTAAGGAAGACAGAAAATGTTTTCTTTGTG
CTCATTGAGTAGTTCCAGACAGAAGAAGAATATACTCTTTAAAATGTATTTACCTGTTAGTTGG
AAGTACCCAGAATTATCAGAAACGAATGCAAAAAAAAAAAAAAAAAAAAAAAGCTTACACAGCT
TCTTAGCAATTTTTTTTTTTTTGCCGAAACAATAAATTGCCTTTAGCAGCAGTTTAAAATCCTA
TCGTGAACAACCTATATTTTCGCCATTTTACAATGGAGAGTTGTGACAAGTACAGGTTATCAAG
TTTGCACTTAACTATGCCAAAAAAAGTTTGAAGCGCTCTATTCTCAGACATGCTGTATTATTAC
TTCTCATTCAAGATTGAAAAATATAAAGGTATCCAAACTCTGTCTTAATGTAAATGTAACTATT
TTTCCTTCAAGTGTTGACTAGGGAGTCGGTTTCTCTCTTAAAGACACTCACTGTACAACTGAAA
GCAGCTGTCATATTTCTGGCAAAATGTGTTTACGTATCTGACAAGTTGTACATTTGTGTATGAA
CTGACATAAAATGTGAAAGCCTGTAAGTGTACATGTAGTGGTGTGGTGTTCTGTCTAGAGGATA
CAACTGAATGTTTTTAATTTGCTGACTTACAGACACAGGCTGTTTACAAAATGCTAGCTGGAAA
GTCTGTAATGTTCATGTCATAACTTTTAGTTAATTGCCATTGAGCACCTGTTCTGAGGAGGTGA
GATGTGGACTTGTGCTTATAAACTGGAGAGTTTAGTCATAATCCCTCCTGGCTTTGTGTGAATA
GCTTGCTCACTTTGCTGGCCTTTGAAATGTGTTCTCCGTGATAAGCTATCCATGTGTTTGTGAT
AAGAGTGCTTGTCAACCATGACCATCTTTGAGCCTTCCTAGTCCTCCACCTGGCACAGTATTTG
AAATGGCAAAGGATGTGCTTCATCCTCTAACAGTGTACACTCCCAGAGCTGATATTCTGGATTT
TGACTGTGCACATTTCCTCTAGTTCATGTCTGTAGTCCCTATAGAATGATCTGTAATAAAATAG
TATACTGGACTGTGCATCAAAGGGATGTAAAATTACAGTATTCCAAAGGTTGAAGTTCTGCTGT
TTTGTTATAATGCCTGATACACATCTTGAATAAAGTCTTAACATTTTTCTTTTAAAAAA

hide sequence

RefSeq Acc Id:

XM_011533044 ⟹ XP_011531346

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	86,213,993 - 86,285,613 (-)	NCBI

Sequence:

show sequence

AGATCCCAGCTCTGCACCTGGCTGATGTGTCTCCTTGGGCTTATATTTGGCACCCTTTACCCTG
CGTATTATTCCTACAAGGCTGTGAAATCAAAGGACATTAAGGAATATGTCAAATGGATGATGTA
CTGGATTATATTTGCACTTTTCACCACAGCAGAGACATTCACAGACATCTTCCTTTGTTGGTTT
CCATTCTATTATGAACTAAAAATAGCATTTGTAGCCTGGCTGCTGTCTCCCTACACAAAAGGCT
CCAGCCTCCTGTACAGGAAGTTTGTACATCCCACGCTATCTTCAAAAGAAAAGGAAATCGATGA
TTGTCTGGTCCAAGCAAAAGACCGAAGTTACGATGCCCTTGTGCACTTCGGGAAGCGGGGCTTG
AACGTGGCCGCCACAGCGGCTGTGATGGCTGCTTCCAAGGGACAGGGTGCCTTATCGGAGAGAC
TGCGGAGCTTCAGCATGCAGGACCTCACCACCATCAGGGGAGACGGCGCCCCTGCTCCCTCGGG
CCCCCCACCACCGGGGTCTGGGCGGGCCAGCGGCAAACACGGCCAGCCTAAGATGTCCAGGAGT
GCTTCTGAGAGCGCTAGCAGCTCAGTGTGTACCTGCTGCTCCACCTGCAGGACCTGGAAAGTGG
TTGAGGGAGATGTGAATGAGGGTGGTATGAAGGCATGGGAGCCCCACCAGGTCCAAAACCCATT
GGCGTTTTCTGACGACGAGGAGGAAGACCTGCTGGATTTCATGTACAAGTATAAAGCACCTCGA
AGGATGGAATTGCCCCTGGAGGCACCGCCTAGAATCCTTCGATCTCGCTTCAGGAAGAAAAGTA
CCTCATCCTCGGCCACCGAAACCACGTGAGTGAGATGAGCCAACAGCACCGGATCCACAGAATG
TTTCTTCTCTGCCTTAAAGAGCTATTCACTAATAACATAGAAATCCGCAAGCTGGGTGTGCTTT
GAGTGTGCAGCCTCACAAACATGGCCTTTTCTCTCTCCCCTTCCACTTTTAAGGATTTATTTTT
TTCCCCCTTTTCTTTATTTTGCTGGGGAGAGGCTAAAGGGAAAGGTAGTAGGGGCGGGGGTGGT
GACCTTTAAGTCTTCTGAGGTTGGTAATTTTCCACAATTGGATTGTCATTATAGACAGCAGTGT
GTTTTTTAGAAAGATAAGAGAATCACCCCTATGCTGCTGAGATGTACATTTGTAATTTATCTGT
TGCATACTTAGTTTTTAGTCCTGTAAATGCAAACACAGCATTTTTTACAACTTTCTTTGTTCTT
GGTACTTATACTTTGAACTATGATGTACATATTTATGGCTTTTGGCTTTTAATATAATGGACTT
GCAAGGGCTGCCAGAGGTTCTGATATGTAAGAAAACTGCAAAAACAAATATAGACAAATATTTT
GATTCTAGAGAACGTCTCAGATGTGCTTATAAAGCTTCCAAATACAACTCCAGTAAGACATCCC
TTTCCCTGCAGGAGTGTGGTCTATATTCTTTAGATAGTTGTTTAGTCAAAAGACCAGACAAGTT
ACAAACTAAGAGAAACAATATTTCACAACACAGTAAAGTGTGATGAGAGGTCAGGGGAACATCC
CAGTAAAAGAGAAGAGTCACAGGAAGCTCATCTCCTCCCTGGATTCTGGATTAGGAGCTTCTGA
ATCTTTTCCAGGGATAGGCAGGTAGCTCACTCTTGGTGCAATTTCTTGAGGATGGGAACATGTA
GAGCTGCTGGAAGGAGTAATTCTGTGCTTGACAAAGGACGATTTCTCCTTTATCGTGACCAGTG
CTGCCGATTTCCTGACAGAGGAGCTTACACTCTGAGCACCTTGTTTTAGCGAACTCTAGCAAAA
CTTGTTTAGCTTAGCAAAAACAAACACACAAAAAACTGAGAACTCTGCTGTTTCAGATATGCCA
TAACATACATCTGAAACACATGTGTAACAATCAAAATGGTGGGCTCTAGAATGGTTTTGGAGCT
CGAGATCTTCATGGGTTAGACTTGCTGGTCAGACCCAGGAGCACCTGTGGCTCACACCTTCTGT
TCCCCTCCTGGCCTGTGCAGAATGTAAACAGCAGACTCATACTCAATGGGCACTACAGGCCTTA
TCAGACGTTTTATACAAGCCTGGATTGCTTAGTAGGGGAATAAGGCATTCTCTGAGGGGGCTTT
CCACTTAGATTGAGAATTTTATTTGAAAAGAATCTGGTTTAAATGGCATTGTGGTCCGAGGTAG
CTGCTCTCCCCACTGAGAGCTGAGCCGAAATATAAGAATAATATATTTGTGCTTCGAGTTGGTG
TTTCTTTCAGTGTAATGCATGCAGTGGTCACAACCCAGTTACTCATAATATTTGGATTGTATTT
GTTCGTAGATATGCCCAGAAGACTAGAGAATTAGTGTTATATACCATATAGAACTTACTGTCAG
TCAACTATAAACAGGCCCAATTAAAAACTGTTCCATTACTACGCAAACACATATTAGAGGCCTT
TGCTGATGACACATTAGCTGGATCTTAGCCACCCCAGAAAGGGTTTGATTTGAAGCTGATTGTT
GCCAGATATGCATATTGGAATCCCATCTACCCATAGTTCCTCTGAAGGTGATTTTGTAATTTGC
AAAAGGGTATAGGAAAATATACCTAAAAGCGAATTTGTGGCTGAGAGGATAAACAGAAGCTGTT
TGCTCATGTTCTGTGCCCCACACCCACCAATACCTAAATCTGTTAAGGAAGACAGAAAATGTTT
TCTTTGTGCTCATTGAGTAGTTCCAGACAGAAGAAGAATATACTCTTTAAAATGTATTTACCTG
TTAGTTGGAAGTACCCAGAATTATCAGAAACGAATGCAAAAAAAAAAAAAAAAAAAAAAAGCTT
ACACAGCTTCTTAGCAATTTTTTTTTTTTTGCCGAAACAATAAATTGCCTTTAGCAGCAGTTTA
AAATCCTATCGTGAACAACCTATATTTTCGCCATTTTACAATGGAGAGTTGTGACAAGTACAGG
TTATCAAGTTTGCACTTAACTATGCCAAAAAAAGTTTGAAGCGCTCTATTCTCAGACATGCTGT
ATTATTACTTCTCATTCAAGATTGAAAAATATAAAGGTATCCAAACTCTGTCTTAATGTAAATG
TAACTATTTTTCCTTCAAGTGTTGACTAGGGAGTCGGTTTCTCTCTTAAAGACACTCACTGTAC
AACTGAAAGCAGCTGTCATATTTCTGGCAAAATGTGTTTACGTATCTGACAAGTTGTACATTTG
TGTATGAACTGACATAAAATGTGAAAGCCTGTAAGTGTACATGTAGTGGTGTGGTGTTCTGTCT
AGAGGATACAACTGAATGTTTTTAATTTGCTGACTTACAGACACAGGCTGTTTACAAAATGCTA
GCTGGAAAGTCTGTAATGTTCATGTCATAACTTTTAGTTAATTGCCATTGAGCACCTGTTCTGA
GGAGGTGAGATGTGGACTTGTGCTTATAAACTGGAGAGTTTAGTCATAATCCCTCCTGGCTTTG
TGTGAATAGCTTGCTCACTTTGCTGGCCTTTGAAATGTGTTCTCCGTGATAAGCTATCCATGTG
TTTGTGATAAGAGTGCTTGTCAACCATGACCATCTTTGAGCCTTCCTAGTCCTCCACCTGGCAC
AGTATTTGAAATGGCAAAGGATGTGCTTCATCCTCTAACAGTGTACACTCCCAGAGCTGATATT
CTGGATTTTGACTGTGCACATTTCCTCTAGTTCATGTCTGTAGTCCCTATAGAATGATCTGTAA
TAAAATAGTATACTGGACTGTGCATCAAAGGGATGTAAAATTACAGTATTCCAAAGGTTGAAGT
TCTGCTGTTTTGTTATAATGCCTGATACACATCTTGAATAAAGTCTTAACATTTTTCTTTTAAA
AAA

hide sequence

RefSeq Acc Id:

XM_011533045 ⟹ XP_011531347

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	86,213,993 - 86,297,766 (-)	NCBI

Sequence:

show sequence

ACCCAGAACCAGTGAATGAGGAGGCTTATATTTGGCACCCTTTACCCTGCGTATTATTCCTACA
AGGCTGTGAAATCAAAGGACATTAAGGAATATGTCAAATGGATGATGTACTGGATTATATTTGC
ACTTTTCACCACAGCAGAGACATTCACAGACATCTTCCTTTGTTGGTTTCCATTCTATTATGAA
CTAAAAATAGCATTTGTAGCCTGGCTGCTGTCTCCCTACACAAAAGGCTCCAGCCTCCTGTACA
GGAAGTTTGTACATCCCACGCTATCTTCAAAAGAAAAGGAAATCGATGATTGTCTGGTCCAAGC
AAAAGACCGAAGTTACGATGCCCTTGTGCACTTCGGGAAGCGGGGCTTGAACGTGGCCGCCACA
GCGGCTGTGATGGCTGCTTCCAAGGGACAGGGTGCCTTATCGGAGAGACTGCGGAGCTTCAGCA
TGCAGGACCTCACCACCATCAGGGGAGACGGCGCCCCTGCTCCCTCGGGCCCCCCACCACCGGG
GTCTGGGCGGGCCAGCGGCAAACACGGCCAGCCTAAGATGTCCAGGAGTGCTTCTGAGAGCGCT
AGCAGCTCAGTGTGTACCTGCTGCTCCACCTGCAGGACCTGGAAAGTGGTTGAGGGAGATGTGA
ATGAGGGTGGTATGAAGGCATGGGAGCCCCACCAGGTCCAAAACCCATTGGCGTTTTCTGACGA
CGAGGAGGAAGACCTGCTGGATTTCATGTACAAGTATAAAGCACCTCGAAGGATGGAATTGCCC
CTGGAGGCACCGCCTAGAATCCTTCGATCTCGCTTCAGGAAGAAAAGTACCTCATCCTCGGCCA
CCGAAACCACGTGAGTGAGATGAGCCAACAGCACCGGATCCACAGAATGTTTCTTCTCTGCCTT
AAAGAGCTATTCACTAATAACATAGAAATCCGCAAGCTGGGTGTGCTTTGAGTGTGCAGCCTCA
CAAACATGGCCTTTTCTCTCTCCCCTTCCACTTTTAAGGATTTATTTTTTTCCCCCTTTTCTTT
ATTTTGCTGGGGAGAGGCTAAAGGGAAAGGTAGTAGGGGCGGGGGTGGTGACCTTTAAGTCTTC
TGAGGTTGGTAATTTTCCACAATTGGATTGTCATTATAGACAGCAGTGTGTTTTTTAGAAAGAT
AAGAGAATCACCCCTATGCTGCTGAGATGTACATTTGTAATTTATCTGTTGCATACTTAGTTTT
TAGTCCTGTAAATGCAAACACAGCATTTTTTACAACTTTCTTTGTTCTTGGTACTTATACTTTG
AACTATGATGTACATATTTATGGCTTTTGGCTTTTAATATAATGGACTTGCAAGGGCTGCCAGA
GGTTCTGATATGTAAGAAAACTGCAAAAACAAATATAGACAAATATTTTGATTCTAGAGAACGT
CTCAGATGTGCTTATAAAGCTTCCAAATACAACTCCAGTAAGACATCCCTTTCCCTGCAGGAGT
GTGGTCTATATTCTTTAGATAGTTGTTTAGTCAAAAGACCAGACAAGTTACAAACTAAGAGAAA
CAATATTTCACAACACAGTAAAGTGTGATGAGAGGTCAGGGGAACATCCCAGTAAAAGAGAAGA
GTCACAGGAAGCTCATCTCCTCCCTGGATTCTGGATTAGGAGCTTCTGAATCTTTTCCAGGGAT
AGGCAGGTAGCTCACTCTTGGTGCAATTTCTTGAGGATGGGAACATGTAGAGCTGCTGGAAGGA
GTAATTCTGTGCTTGACAAAGGACGATTTCTCCTTTATCGTGACCAGTGCTGCCGATTTCCTGA
CAGAGGAGCTTACACTCTGAGCACCTTGTTTTAGCGAACTCTAGCAAAACTTGTTTAGCTTAGC
AAAAACAAACACACAAAAAACTGAGAACTCTGCTGTTTCAGATATGCCATAACATACATCTGAA
ACACATGTGTAACAATCAAAATGGTGGGCTCTAGAATGGTTTTGGAGCTCGAGATCTTCATGGG
TTAGACTTGCTGGTCAGACCCAGGAGCACCTGTGGCTCACACCTTCTGTTCCCCTCCTGGCCTG
TGCAGAATGTAAACAGCAGACTCATACTCAATGGGCACTACAGGCCTTATCAGACGTTTTATAC
AAGCCTGGATTGCTTAGTAGGGGAATAAGGCATTCTCTGAGGGGGCTTTCCACTTAGATTGAGA
ATTTTATTTGAAAAGAATCTGGTTTAAATGGCATTGTGGTCCGAGGTAGCTGCTCTCCCCACTG
AGAGCTGAGCCGAAATATAAGAATAATATATTTGTGCTTCGAGTTGGTGTTTCTTTCAGTGTAA
TGCATGCAGTGGTCACAACCCAGTTACTCATAATATTTGGATTGTATTTGTTCGTAGATATGCC
CAGAAGACTAGAGAATTAGTGTTATATACCATATAGAACTTACTGTCAGTCAACTATAAACAGG
CCCAATTAAAAACTGTTCCATTACTACGCAAACACATATTAGAGGCCTTTGCTGATGACACATT
AGCTGGATCTTAGCCACCCCAGAAAGGGTTTGATTTGAAGCTGATTGTTGCCAGATATGCATAT
TGGAATCCCATCTACCCATAGTTCCTCTGAAGGTGATTTTGTAATTTGCAAAAGGGTATAGGAA
AATATACCTAAAAGCGAATTTGTGGCTGAGAGGATAAACAGAAGCTGTTTGCTCATGTTCTGTG
CCCCACACCCACCAATACCTAAATCTGTTAAGGAAGACAGAAAATGTTTTCTTTGTGCTCATTG
AGTAGTTCCAGACAGAAGAAGAATATACTCTTTAAAATGTATTTACCTGTTAGTTGGAAGTACC
CAGAATTATCAGAAACGAATGCAAAAAAAAAAAAAAAAAAAAAAAGCTTACACAGCTTCTTAGC
AATTTTTTTTTTTTTGCCGAAACAATAAATTGCCTTTAGCAGCAGTTTAAAATCCTATCGTGAA
CAACCTATATTTTCGCCATTTTACAATGGAGAGTTGTGACAAGTACAGGTTATCAAGTTTGCAC
TTAACTATGCCAAAAAAAGTTTGAAGCGCTCTATTCTCAGACATGCTGTATTATTACTTCTCAT
TCAAGATTGAAAAATATAAAGGTATCCAAACTCTGTCTTAATGTAAATGTAACTATTTTTCCTT
CAAGTGTTGACTAGGGAGTCGGTTTCTCTCTTAAAGACACTCACTGTACAACTGAAAGCAGCTG
TCATATTTCTGGCAAAATGTGTTTACGTATCTGACAAGTTGTACATTTGTGTATGAACTGACAT
AAAATGTGAAAGCCTGTAAGTGTACATGTAGTGGTGTGGTGTTCTGTCTAGAGGATACAACTGA
ATGTTTTTAATTTGCTGACTTACAGACACAGGCTGTTTACAAAATGCTAGCTGGAAAGTCTGTA
ATGTTCATGTCATAACTTTTAGTTAATTGCCATTGAGCACCTGTTCTGAGGAGGTGAGATGTGG
ACTTGTGCTTATAAACTGGAGAGTTTAGTCATAATCCCTCCTGGCTTTGTGTGAATAGCTTGCT
CACTTTGCTGGCCTTTGAAATGTGTTCTCCGTGATAAGCTATCCATGTGTTTGTGATAAGAGTG
CTTGTCAACCATGACCATCTTTGAGCCTTCCTAGTCCTCCACCTGGCACAGTATTTGAAATGGC
AAAGGATGTGCTTCATCCTCTAACAGTGTACACTCCCAGAGCTGATATTCTGGATTTTGACTGT
GCACATTTCCTCTAGTTCATGTCTGTAGTCCCTATAGAATGATCTGTAATAAAATAGTATACTG
GACTGTGCATCAAAGGGATGTAAAATTACAGTATTCCAAAGGTTGAAGTTCTGCTGTTTTGTTA
TAATGCCTGATACACATCTTGAATAAAGTCTTAACATTTTTCTTTTAAAAAA

hide sequence

RefSeq Acc Id:

XM_017004725 ⟹ XP_016860214

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	86,213,993 - 86,337,133 (-)	NCBI

Sequence:

show sequence

AGCTTTTGTCAGGTGGAAAGGACAGCGCAGACGAACCAGGGGCGCTGCCTGGAGGGTCAGCGCG
GAACGGGTGGAGAGGCAGAGGCGGGGCTCCCAGTGGGGTTGGAAAAATCCTCCTTTTTAGGTGT
CTGCATCGACAGCGGCAAAGGCAGCTGGGACATGGGAAGACGCATGTGAATCTTGGAGTAAACG
CCTGGAGCCCCCGGCTCCGACTCCTTTTGCAGGGGATTGAGAGACAGGGGCAGGTACCTCCAGG
AATGCACGGGAAATTTTCAAGTGACAGCCACCCGCATGGTGGCGATGACACCTCCCAGGCCTTG
CAGGAGAGCGCAGAGTCATCTAGGGCTTATATTTGGCACCCTTTACCCTGCGTATTATTCCTAC
AAGGCTGTGAAATCAAAGGACATTAAGGAATATGTCAAATGGATGATGTACTGGATTATATTTG
CACTTTTCACCACAGCAGAGACATTCACAGACATCTTCCTTTGTTGGTTTCCATTCTATTATGA
ACTAAAAATAGCATTTGTAGCCTGGCTGCTGTCTCCCTACACAAAAGGCTCCAGCCTCCTGTAC
AGGAAGTTTGTACATCCCACGCTATCTTCAAAAGAAAAGGAAATCGATGATTGTCTGGTCCAAG
CAAAAGACCGAAGTTACGATGCCCTTGTGCACTTCGGGAAGCGGGGCTTGAACGTGGCCGCCAC
AGCGGCTGTGATGGCTGCTTCCAAGGGACAGGGTGCCTTATCGGAGAGACTGCGGAGCTTCAGC
ATGCAGGACCTCACCACCATCAGGGGAGACGGCGCCCCTGCTCCCTCGGGCCCCCCACCACCGG
GGTCTGGGCGGGCCAGCGGCAAACACGGCCAGCCTAAGATGTCCAGGAGTGCTTCTGAGAGCGC
TAGCAGCTCAGTGGTTGAGGGAGATGTGAATGAGGGTGGTATGAAGGCATGGGAGCCCCACCAG
GTCCAAAACCCATTGGCGTTTTCTGACGACGAGGAGGAAGACCTGCTGGATTTCATGTACAAGT
ATAAAGCACCTCGAAGGATGGAATTGCCCCTGGAGGCACCGCCTAGAATCCTTCGATCTCGCTT
CAGGAAGAAAAGTACCTCATCCTCGGCCACCGAAACCACGTGAGTGAGATGAGCCAACAGCACC
GGATCCACAGAATGTTTCTTCTCTGCCTTAAAGAGCTATTCACTAATAACATAGAAATCCGCAA
GCTGGGTGTGCTTTGAGTGTGCAGCCTCACAAACATGGCCTTTTCTCTCTCCCCTTCCACTTTT
AAGGATTTATTTTTTTCCCCCTTTTCTTTATTTTGCTGGGGAGAGGCTAAAGGGAAAGGTAGTA
GGGGCGGGGGTGGTGACCTTTAAGTCTTCTGAGGTTGGTAATTTTCCACAATTGGATTGTCATT
ATAGACAGCAGTGTGTTTTTTAGAAAGATAAGAGAATCACCCCTATGCTGCTGAGATGTACATT
TGTAATTTATCTGTTGCATACTTAGTTTTTAGTCCTGTAAATGCAAACACAGCATTTTTTACAA
CTTTCTTTGTTCTTGGTACTTATACTTTGAACTATGATGTACATATTTATGGCTTTTGGCTTTT
AATATAATGGACTTGCAAGGGCTGCCAGAGGTTCTGATATGTAAGAAAACTGCAAAAACAAATA
TAGACAAATATTTTGATTCTAGAGAACGTCTCAGATGTGCTTATAAAGCTTCCAAATACAACTC
CAGTAAGACATCCCTTTCCCTGCAGGAGTGTGGTCTATATTCTTTAGATAGTTGTTTAGTCAAA
AGACCAGACAAGTTACAAACTAAGAGAAACAATATTTCACAACACAGTAAAGTGTGATGAGAGG
TCAGGGGAACATCCCAGTAAAAGAGAAGAGTCACAGGAAGCTCATCTCCTCCCTGGATTCTGGA
TTAGGAGCTTCTGAATCTTTTCCAGGGATAGGCAGGTAGCTCACTCTTGGTGCAATTTCTTGAG
GATGGGAACATGTAGAGCTGCTGGAAGGAGTAATTCTGTGCTTGACAAAGGACGATTTCTCCTT
TATCGTGACCAGTGCTGCCGATTTCCTGACAGAGGAGCTTACACTCTGAGCACCTTGTTTTAGC
GAACTCTAGCAAAACTTGTTTAGCTTAGCAAAAACAAACACACAAAAAACTGAGAACTCTGCTG
TTTCAGATATGCCATAACATACATCTGAAACACATGTGTAACAATCAAAATGGTGGGCTCTAGA
ATGGTTTTGGAGCTCGAGATCTTCATGGGTTAGACTTGCTGGTCAGACCCAGGAGCACCTGTGG
CTCACACCTTCTGTTCCCCTCCTGGCCTGTGCAGAATGTAAACAGCAGACTCATACTCAATGGG
CACTACAGGCCTTATCAGACGTTTTATACAAGCCTGGATTGCTTAGTAGGGGAATAAGGCATTC
TCTGAGGGGGCTTTCCACTTAGATTGAGAATTTTATTTGAAAAGAATCTGGTTTAAATGGCATT
GTGGTCCGAGGTAGCTGCTCTCCCCACTGAGAGCTGAGCCGAAATATAAGAATAATATATTTGT
GCTTCGAGTTGGTGTTTCTTTCAGTGTAATGCATGCAGTGGTCACAACCCAGTTACTCATAATA
TTTGGATTGTATTTGTTCGTAGATATGCCCAGAAGACTAGAGAATTAGTGTTATATACCATATA
GAACTTACTGTCAGTCAACTATAAACAGGCCCAATTAAAAACTGTTCCATTACTACGCAAACAC
ATATTAGAGGCCTTTGCTGATGACACATTAGCTGGATCTTAGCCACCCCAGAAAGGGTTTGATT
TGAAGCTGATTGTTGCCAGATATGCATATTGGAATCCCATCTACCCATAGTTCCTCTGAAGGTG
ATTTTGTAATTTGCAAAAGGGTATAGGAAAATATACCTAAAAGCGAATTTGTGGCTGAGAGGAT
AAACAGAAGCTGTTTGCTCATGTTCTGTGCCCCACACCCACCAATACCTAAATCTGTTAAGGAA
GACAGAAAATGTTTTCTTTGTGCTCATTGAGTAGTTCCAGACAGAAGAAGAATATACTCTTTAA
AATGTATTTACCTGTTAGTTGGAAGTACCCAGAATTATCAGAAACGAATGCAAAAAAAAAAAAA
AAAAAAAAAAGCTTACACAGCTTCTTAGCAATTTTTTTTTTTTTGCCGAAACAATAAATTGCCT
TTAGCAGCAGTTTAAAATCCTATCGTGAACAACCTATATTTTCGCCATTTTACAATGGAGAGTT
GTGACAAGTACAGGTTATCAAGTTTGCACTTAACTATGCCAAAAAAAGTTTGAAGCGCTCTATT
CTCAGACATGCTGTATTATTACTTCTCATTCAAGATTGAAAAATATAAAGGTATCCAAACTCTG
TCTTAATGTAAATGTAACTATTTTTCCTTCAAGTGTTGACTAGGGAGTCGGTTTCTCTCTTAAA
GACACTCACTGTACAACTGAAAGCAGCTGTCATATTTCTGGCAAAATGTGTTTACGTATCTGAC
AAGTTGTACATTTGTGTATGAACTGACATAAAATGTGAAAGCCTGTAAGTGTACATGTAGTGGT
GTGGTGTTCTGTCTAGAGGATACAACTGAATGTTTTTAATTTGCTGACTTACAGACACAGGCTG
TTTACAAAATGCTAGCTGGAAAGTCTGTAATGTTCATGTCATAACTTTTAGTTAATTGCCATTG
AGCACCTGTTCTGAGGAGGTGAGATGTGGACTTGTGCTTATAAACTGGAGAGTTTAGTCATAAT
CCCTCCTGGCTTTGTGTGAATAGCTTGCTCACTTTGCTGGCCTTTGAAATGTGTTCTCCGTGAT
AAGCTATCCATGTGTTTGTGATAAGAGTGCTTGTCAACCATGACCATCTTTGAGCCTTCCTAGT
CCTCCACCTGGCACAGTATTTGAAATGGCAAAGGATGTGCTTCATCCTCTAACAGTGTACACTC
CCAGAGCTGATATTCTGGATTTTGACTGTGCACATTTCCTCTAGTTCATGTCTGTAGTCCCTAT
AGAATGATCTGTAATAAAATAGTATACTGGACTGTGCATCAAAGGGATGTAAAATTACAGTATT
CCAAAGGTTGAAGTTCTGCTGTTTTGTTATAATGCCTGATACACATCTTGAATAAAGTCTTAAC
ATTTTTCTTTTAAAAAA

hide sequence

RefSeq Acc Id:

XM_017004726 ⟹ XP_016860215

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	86,213,993 - 86,337,126 (-)	NCBI

Sequence:

show sequence

AGCTTTTGTCAGGTGGAAAGGACAGCGCAGACGAACCAGGGGCGCTGCCTGGAGGGTCAGCGCG
GAACGGGTGGAGAGGCAGAGGCGGGGCTCCCAGTGGGGTTGGAAAAATCCTCCTTTTTAGGTGT
CTGCATCGACAGCGGCAAAGGCAGCTGGGACATGGGAAGACGCATGTGAATCTTGGAGTAAACG
CCTGGAGCCCCCGGCTCCGACTCCTTTTGCAGGGGATTGAGAGACAGGGGCAGGTACCTCCAGG
AATGCACGGGAAATTTTCAAGTGACAGCCACCCGCATGGTGGCGATGACACCTCCCAGGCCTTG
CAGGAGAGCGCAGAGTCATCTAGGGCTTATATTTGGCACCCTTTACCCTGCGTATTATTCCTAC
AAGGCTGTGAAATCAAAGGACATTAAGGAATATGTCAAATGGATGATGTACTGGATTATATTTG
CACTTTTCACCACAGCAGAGACATTCACAGACATCTTCCTTTGTTGGTTTCCATTCTATTATGA
ACTAAAAATAGCATTTGTAGCCTGGCTGCTGTCTCCCTACACAAAAGGCTCCAGCCTCCTGTAC
AGGAAGTTTGTACATCCCACGCTATCTTCAAAAGAAAAGGAAATCGATGATTGTCTGGTCCAAG
CAAAAGACCGAAGTTACGATGCCCTTGTGCACTTCGGGAAGCGGGGCTTGAACGTGGCCGCCAC
AGCGGCTGTGATGGCTGCTTCCAAGGGACAGGGTGCCTTATCGGAGAGACTGCGGAGCTTCAGC
ATGCAGGACCTCACCACCATCAGGGGAGACGGCGCCCCTGCTCCCTCGGGCCCCCCACCACCGG
GGTCTGGGCGGGCCAGCGGCAAACACGGCCAGCCTAAGATGTCCAGGAGTGCTTCTGAGAGCGC
TAGCAGCTCAGTGTGTACCTGCTGCTCCACCTGCAGGACCTGGAAAGGCACCGCCTAGAATCCT
TCGATCTCGCTTCAGGAAGAAAAGTACCTCATCCTCGGCCACCGAAACCACGTGAGTGAGATGA
GCCAACAGCACCGGATCCACAGAATGTTTCTTCTCTGCCTTAAAGAGCTATTCACTAATAACAT
AGAAATCCGCAAGCTGGGTGTGCTTTGAGTGTGCAGCCTCACAAACATGGCCTTTTCTCTCTCC
CCTTCCACTTTTAAGGATTTATTTTTTTCCCCCTTTTCTTTATTTTGCTGGGGAGAGGCTAA

hide sequence

RefSeq Acc Id:

XM_017004727 ⟹ XP_016860216

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	86,213,993 - 86,337,112 (-)	NCBI

Sequence:

show sequence

AGCTTTTGTCAGGTGGAAAGGACAGCGCAGACGAACCAGGGGCGCTGCCTGGAGGGTCAGCGCG
GAACGGGTGGAGAGGCAGAGGCGGGGCTCCCAGTGGGGTTGGAAAAATCCTCCTTTTTAGGTGT
CTGCATCGACAGCGGCAAAGGCAGCTGGGACATGGGAAGACGCATGTGAATCTTGGAGTAAACG
CCTGGAGCCCCCGGCTCCGACTCCTTTTGCAGGGGATTGAGAGACAGGGGCAGGTACCTCCAGG
AATGCACGGGAAATTTTCAAGTGACAGCCACCCGCATGGTGGCGATGACACCTCCCAGGCCTTG
CAGGAGAGCGCAGAGTCATCTAGGGCTTATATTTGGCACCCTTTACCCTGCGTATTATTCCTAC
AAGGCTGTGAAATCAAAGGACATTAAGGAATATGTCAAATGGATGATGTACTGGATTATATTTG
CACTTTTCACCACAGCAGAGACATTCACAGACATCTTCCTTTGTTGGTTTCCATTCTATTATGA
ACTAAAAATAGCATTTGTAGCCTGGCTGCTGTCTCCCTACACAAAAGGCTCCAGCCTCCTGTAC
AGGAAGTTTGTACATCCCACGCTATCTTCAAAAGAAAAGGAAATCGATGATTGTCTGGTCCAAG
CAAAAGACCGAAGTTACGATGCCCTTGTGCACTTCGGGAAGCGGGGCTTGAACGTGGCCGCCAC
AGCGGCTGTGATGGCTGCTTCCAAGGGACAGGGTGCCTTATCGGAGAGACTGCGGAGCTTCAGC
ATGCAGGACCTCACCACCATCAGGGGAGACGGCGCCCCTGCTCCCTCGGGCCCCCCACCACCGG
GGTCTGGGCGGGCCAGCGGCAAACACGGCCAGCCTAAGATGTCCAGGAGTGCTTCTGAGAGCGC
TAGCAGCTCAGGCACCGCCTAGAATCCTTCGATCTCGCTTCAGGAAGAAAAGTACCTCATCCTC
GGCCACCGAAACCACGTGAGTGAGATGAGCCAACAGCACCGGATCCACAGAATGTTTCTTCTCT
GCCTTAAAGAGCTATTCACTAATAACATAGAAATCCGCAAGCTGGGTGTGCTTTGAGTGTGCAG
CCTCACAAACATGGCCTTTTCTCTCTCCCCTTCCACTTTTAAGGATTTATTTTTTTCCCCCTTT
TCTTTATTTTGCTGGGGAGAGGCTAAAGGGAAAGGTAGTAGGGGCGGGGGTGGTGACCTTTAAG
TCTTCTGAGGTTGGTAATTTTCCACAATTGGATTGTCATTATAGACAGCAGTGTGTTTTTTAGA
AAGATAAGAGAATCACCCCTATGCTGCTGAGATGTACATTTGTAATTTATCTGTTGCATACTTA
GTTTTTAGTCCTGTAAATGCAAACACAGCATTTTTTACAACTTTCTTTGTTCTTGGTACTTATA
CTTTGAACTATGATGTACATATTTATGGCTTTTGGCTTTTAATATAATGGACTTGCAAGGGCTG
CCAGAGGTTCTGATATGTAAGAAAACTGCAAAAACAAATATAGACAAATATTTTGATTCTAGAG
AACGTCTCAGATGTGCTTATAAAGCTTCCAAATACAACTCCAGTAAGACATCCCTTTCCCTGCA
GGAGTGTGGTCTATATTCTTTAGATAGTTGTTTAGTCAAAAGACCAGACAAGTTACAAACTAAG
AGAAACAATATTTCACAACACAGTAAAGTGTGATGAGAGGTCAGGGGAACATCCCAGTAAAAGA
GAAGAGTCACAGGAAGCTCATCTCCTCCCTGGATTCTGGATTAGGAGCTTCTGAATCTTTTCCA
GGGATAGGCAGGTAGCTCACTCTTGGTGCAATTTCTTGAGGATGGGAACATGTAGAGCTGCTGG
AAGGAGTAATTCTGTGCTTGACAAAGGACGATTTCTCCTTTATCGTGACCAGTGCTGCCGATTT
CCTGACAGAGGAGCTTACACTCTGAGCACCTTGTTTTAGCGAACTCTAGCAAAACTTGTTTAGC
TTAGCAAAAACAAACACACAAAAAACTGAGAACTCTGCTGTTTCAGATATGCCATAACATACAT
CTGAAACACATGTGTAACAATCAAAATGGTGGGCTCTAGAATGGTTTTGGAGCTCGAGATCTTC
ATGGGTTAGACTTGCTGGTCAGACCCAGGAGCACCTGTGGCTCACACCTTCTGTTCCCCTCCTG
GCCTGTGCAGAATGTAAACAGCAGACTCATACTCAATGGGCACTACAGGCCTTATCAGACGTTT
TATACAAGCCTGGATTGCTTAGTAGGGGAATAAGGCATTCTCTGAGGGGGCTTTCCACTTAGAT
TGAGAATTTTATTTGAAAAGAATCTGGTTTAAATGGCATTGTGGTCCGAGGTAGCTGCTCTCCC
CACTGAGAGCTGAGCCGAAATATAAGAATAATATATTTGTGCTTCGAGTTGGTGTTTCTTTCAG
TGTAATGCATGCAGTGGTCACAACCCAGTTACTCATAATATTTGGATTGTATTTGTTCGTAGAT
ATGCCCAGAAGACTAGAGAATTAGTGTTATATACCATATAGAACTTACTGTCAGTCAACTATAA
ACAGGCCCAATTAAAAACTGTTCCATTACTACGCAAACACATATTAGAGGCCTTTGCTGATGAC
ACATTAGCTGGATCTTAGCCACCCCAGAAAGGGTTTGATTTGAAGCTGATTGTTGCCAGATATG
CATATTGGAATCCCATCTACCCATAGTTCCTCTGAAGGTGATTTTGTAATTTGCAAAAGGGTAT
AGGAAAATATACCTAAAAGCGAATTTGTGGCTGAGAGGATAAACAGAAGCTGTTTGCTCATGTT
CTGTGCCCCACACCCACCAATACCTAAATCTGTTAAGGAAGACAGAAAATGTTTTCTTTGTGCT
CATTGAGTAGTTCCAGACAGAAGAAGAATATACTCTTTAAAATGTATTTACCTGTTAGTTGGAA
GTACCCAGAATTATCAGAAACGAATGCAAAAAAAAAAAAAAAAAAAAAAAGCTTACACAGCTTC
TTAGCAATTTTTTTTTTTTTGCCGAAACAATAAATTGCCTTTAGCAGCAGTTTAAAATCCTATC
GTGAACAACCTATATTTTCGCCATTTTACAATGGAGAGTTGTGACAAGTACAGGTTATCAAGTT
TGCACTTAACTATGCCAAAAAAAGTTTGAAGCGCTCTATTCTCAGACATGCTGTATTATTACTT
CTCATTCAAGATTGAAAAATATAAAGGTATCCAAACTCTGTCTTAATGTAAATGTAACTATTTT
TCCTTCAAGTGTTGACTAGGGAGTCGGTTTCTCTCTTAAAGACACTCACTGTACAACTGAAAGC
AGCTGTCATATTTCTGGCAAAATGTGTTTACGTATCTGACAAGTTGTACATTTGTGTATGAACT
GACATAAAATGTGAAAGCCTGTAAGTGTACATGTAGTGGTGTGGTGTTCTGTCTAGAGGATACA
ACTGAATGTTTTTAATTTGCTGACTTACAGACACAGGCTGTTTACAAAATGCTAGCTGGAAAGT
CTGTAATGTTCATGTCATAACTTTTAGTTAATTGCCATTGAGCACCTGTTCTGAGGAGGTGAGA
TGTGGACTTGTGCTTATAAACTGGAGAGTTTAGTCATAATCCCTCCTGGCTTTGTGTGAATAGC
TTGCTCACTTTGCTGGCCTTTGAAATGTGTTCTCCGTGATAAGCTATCCATGTGTTTGTGATAA
GAGTGCTTGTCAACCATGACCATCTTTGAGCCTTCCTAGTCCTCCACCTGGCACAGTATTTGAA
ATGGCAAAGGATGTGCTTCATCCTCTAACAGTGTACACTCCCAGAGCTGATATTCTGGATTTTG
ACTGTGCACATTTCCTCTAGTTCATGTCTGTAGTCCCTATAGAATGATCTGTAATAAAATAGTA
TACTGGACTGTGCATCAAAGGGATGTAAAATTACAGTATTCCAAAGGTTGAAGTTCTGCTGTTT
TGTTATAATGCCTGATACACATCTTGAATAAAGTCTTAACATTTTTCTTTTAAAAAA

hide sequence

RefSeq Acc Id:

XM_047445536 ⟹ XP_047301492

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	86,213,993 - 86,285,661 (-)	NCBI

RefSeq Acc Id:

XM_047445537 ⟹ XP_047301493

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	86,213,993 - 86,283,467 (-)	NCBI

RefSeq Acc Id:

XM_054343428 ⟹ XP_054199403

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	86,216,087 - 86,339,149 (-)	NCBI

RefSeq Acc Id:

XM_054343429 ⟹ XP_054199404

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	86,216,087 - 86,287,633 (-)	NCBI

RefSeq Acc Id:

XM_054343430 ⟹ XP_054199405

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	86,216,087 - 86,299,788 (-)	NCBI

RefSeq Acc Id:

XM_054343431 ⟹ XP_054199406

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	86,216,087 - 86,299,709 (-)	NCBI

RefSeq Acc Id:

XM_054343432 ⟹ XP_054199407

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	86,216,087 - 86,339,142 (-)	NCBI

RefSeq Acc Id:

XM_054343433 ⟹ XP_054199408

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	86,216,087 - 86,339,128 (-)	NCBI

RefSeq Acc Id:

XM_054343434 ⟹ XP_054199409

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	86,216,087 - 86,287,681 (-)	NCBI

RefSeq Acc Id:

XM_054343435 ⟹ XP_054199410

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	86,216,087 - 86,285,485 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001158202	(Get FASTA)	NCBI Sequence Viewer
	NP_001158203	(Get FASTA)	NCBI Sequence Viewer
	NP_001158204	(Get FASTA)	NCBI Sequence Viewer
	NP_001358208	(Get FASTA)	NCBI Sequence Viewer
	NP_001358209	(Get FASTA)	NCBI Sequence Viewer
	NP_001397784	(Get FASTA)	NCBI Sequence Viewer
	NP_001397785	(Get FASTA)	NCBI Sequence Viewer
	NP_075063	(Get FASTA)	NCBI Sequence Viewer
	XP_005264561	(Get FASTA)	NCBI Sequence Viewer
	XP_011531346	(Get FASTA)	NCBI Sequence Viewer
	XP_011531347	(Get FASTA)	NCBI Sequence Viewer
	XP_016860214	(Get FASTA)	NCBI Sequence Viewer
	XP_016860215	(Get FASTA)	NCBI Sequence Viewer
	XP_016860216	(Get FASTA)	NCBI Sequence Viewer
	XP_047301492	(Get FASTA)	NCBI Sequence Viewer
	XP_047301493	(Get FASTA)	NCBI Sequence Viewer
	XP_054199403	(Get FASTA)	NCBI Sequence Viewer
	XP_054199404	(Get FASTA)	NCBI Sequence Viewer
	XP_054199405	(Get FASTA)	NCBI Sequence Viewer
	XP_054199406	(Get FASTA)	NCBI Sequence Viewer
	XP_054199407	(Get FASTA)	NCBI Sequence Viewer
	XP_054199408	(Get FASTA)	NCBI Sequence Viewer
	XP_054199409	(Get FASTA)	NCBI Sequence Viewer
	XP_054199410	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH64846	(Get FASTA)	NCBI Sequence Viewer
	AAI39747	(Get FASTA)	NCBI Sequence Viewer
	AAT70684	(Get FASTA)	NCBI Sequence Viewer
	AAX93132	(Get FASTA)	NCBI Sequence Viewer
	BAB14444	(Get FASTA)	NCBI Sequence Viewer
	BAH11727	(Get FASTA)	NCBI Sequence Viewer
	BAH12523	(Get FASTA)	NCBI Sequence Viewer
	BAH12538	(Get FASTA)	NCBI Sequence Viewer
	BAH12561	(Get FASTA)	NCBI Sequence Viewer
	BAH12565	(Get FASTA)	NCBI Sequence Viewer
	BAH13005	(Get FASTA)	NCBI Sequence Viewer
	CAG33582	(Get FASTA)	NCBI Sequence Viewer
	EAW99457	(Get FASTA)	NCBI Sequence Viewer
	EAW99458	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000165698
	ENSP00000165698.5
	ENSP00000392197
	ENSP00000392197.2
	ENSP00000437567
	ENSP00000437567.1
	ENSP00000438346
	ENSP00000438346.3
	ENSP00000442681
	ENSP00000442681.1
	ENSP00000475269.1
	ENSP00000494305
	ENSP00000494305.1
	ENSP00000494960.1
	ENSP00000495610
	ENSP00000495610.2
	ENSP00000508490.1
	ENSP00000508496
	ENSP00000508496.1
	ENSP00000508656.1
	ENSP00000509143
	ENSP00000509143.1
	ENSP00000509465.1
	ENSP00000509904.1
	ENSP00000510490.1
GenBank Protein	Q9H902	(Get FASTA)	NCBI Sequence Viewer
	QJB23391	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001158202 ⟸ NM_001164730
- Peptide Label:	isoform 1
- UniProtKB:	B7Z4H9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQKVLSNGQTEEVRSGSRLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDI FLCWFPFYYELKIAFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHF GKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIRGDGAPAPSGPPPPGSGRASGKHGQP KMSRSASESASSSGTA hide sequence

RefSeq Acc Id:	NP_001158204 ⟸ NM_001164732
- Peptide Label:	isoform 4
- UniProtKB:	B7Z241 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWDRV PYRRDCGASACRTSPPSGETAPLLPRAPHHRGLGGPAANTASLRCPGVLLRALAAQAPPRILRS RFRKKSTSSSATETT hide sequence

RefSeq Acc Id:	NP_075063 ⟸ NM_022912
- Peptide Label:	isoform 2
- UniProtKB:	D6W5M2 (UniProtKB/Swiss-Prot), B7Z5R9 (UniProtKB/Swiss-Prot), B7Z4F2 (UniProtKB/Swiss-Prot), B7Z4D7 (UniProtKB/Swiss-Prot), Q53TI0 (UniProtKB/Swiss-Prot), Q9H902 (UniProtKB/Swiss-Prot), B7Z4H9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPF YYELKIAFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNV AATAAVMAASKGQGALSERLRSFSMQDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSAS ESASSSGTA hide sequence

RefSeq Acc Id:	NP_001158203 ⟸ NM_001164731
- Peptide Label:	isoform 3
- UniProtKB:	B7Z4H9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDHLQAGGVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPYTKGSSLLYRKF VHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAVMAASKGQGALSERLRSFSMQD LTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSGTA hide sequence

RefSeq Acc Id:	XP_005264561 ⟸ XM_005264504
- Peptide Label:	isoform X4
- UniProtKB:	A0A2R8YD64 (UniProtKB/TrEMBL)
- Sequence:	show sequence MMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKE IDDCLVQAKDRSYDALVHFGKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIRGDGAPA PSGPPPPGSGRASGKHGQPKMSRSASESASSSVCTCCSTCRTWKVVEGDVNEGGMKAWEPHQVQ NPLAFSDDEEEDLLDFMYKYKAPRRMELPLEAPPRILRSRFRKKSTSSSATETT hide sequence

RefSeq Acc Id:	XP_011531347 ⟸ XM_011533045
- Peptide Label:	isoform X3
- UniProtKB:	A0A2R8YD64 (UniProtKB/TrEMBL)
- Sequence:	show sequence MRRLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAF VAWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAVMA ASKGQGALSERLRSFSMQDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSVC TCCSTCRTWKVVEGDVNEGGMKAWEPHQVQNPLAFSDDEEEDLLDFMYKYKAPRRMELPLEAPP RILRSRFRKKSTSSSATETT hide sequence

RefSeq Acc Id:	XP_011531346 ⟸ XM_011533044
- Peptide Label:	isoform X2
- UniProtKB:	A0A2R8YD64 (UniProtKB/TrEMBL)
- Sequence:	show sequence MCLLGLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKI AFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHFGKRGLNVAATAAV MAASKGQGALSERLRSFSMQDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSS VCTCCSTCRTWKVVEGDVNEGGMKAWEPHQVQNPLAFSDDEEEDLLDFMYKYKAPRRMELPLEA PPRILRSRFRKKSTSSSATETT hide sequence

RefSeq Acc Id:	XP_016860216 ⟸ XM_017004727
- Peptide Label:	isoform X6
- UniProtKB:	B7Z4H9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVAMTPPRPCRRAQSHLGLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDI FLCWFPFYYELKIAFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHF GKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIRGDGAPAPSGPPPPGSGRASGKHGQP KMSRSASESASSSGTA hide sequence

RefSeq Acc Id:	XP_016860214 ⟸ XM_017004725
- Peptide Label:	isoform X1
- UniProtKB:	A0A2R8YD64 (UniProtKB/TrEMBL)
- Sequence:	show sequence MVAMTPPRPCRRAQSHLGLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDI FLCWFPFYYELKIAFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHF GKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIRGDGAPAPSGPPPPGSGRASGKHGQP KMSRSASESASSSVVEGDVNEGGMKAWEPHQVQNPLAFSDDEEEDLLDFMYKYKAPRRMELPLE APPRILRSRFRKKSTSSSATETT hide sequence

RefSeq Acc Id:

XP_016860215 ⟸ XM_017004726

- Peptide Label:

isoform X5

- Sequence:

show sequence

MVAMTPPRPCRRAQSHLGLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDI
FLCWFPFYYELKIAFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVHF
GKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIRGDGAPAPSGPPPPGSGRASGKHGQP
KMSRSASESASSSVCTCCSTCRTWKGTA

hide sequence

RefSeq Acc Id:	NP_001358209 ⟸ NM_001371280
- Peptide Label:	isoform 6
- UniProtKB:	A0A8I5KRE1 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001358208 ⟸ NM_001371279
- Peptide Label:	isoform 5
- UniProtKB:	A0A1C7CYY3 (UniProtKB/TrEMBL), A0A2R8YD64 (UniProtKB/TrEMBL)

RefSeq Acc Id:

ENSP00000442681 ⟸ ENST00000541910

RefSeq Acc Id:

ENSP00000392197 ⟸ ENST00000453231

RefSeq Acc Id:

ENSP00000165698 ⟸ ENST00000165698

RefSeq Acc Id:

ENSP00000437567 ⟸ ENST00000535845

RefSeq Acc Id:

ENSP00000494960 ⟸ ENST00000642243

RefSeq Acc Id:

ENSP00000438346 ⟸ ENST00000538924

RefSeq Acc Id:

ENSP00000495610 ⟸ ENST00000643817

RefSeq Acc Id:

ENSP00000494305 ⟸ ENST00000644644

RefSeq Acc Id:

ENSP00000475269 ⟸ ENST00000489855

RefSeq Acc Id:

ENSP00000509904 ⟸ ENST00000686220

RefSeq Acc Id:

ENSP00000509143 ⟸ ENST00000689156

RefSeq Acc Id:

ENSP00000508656 ⟸ ENST00000692664

RefSeq Acc Id:

ENSP00000508490 ⟸ ENST00000693329

RefSeq Acc Id:

ENSP00000509465 ⟸ ENST00000691093

RefSeq Acc Id:

ENSP00000510490 ⟸ ENST00000688400

RefSeq Acc Id:

ENSP00000508496 ⟸ ENST00000691703

RefSeq Acc Id:	XP_047301492 ⟸ XM_047445536
- Peptide Label:	isoform X7

RefSeq Acc Id:	XP_047301493 ⟸ XM_047445537
- Peptide Label:	isoform X4

RefSeq Acc Id:	NP_001397784 ⟸ NM_001410855
- Peptide Label:	isoform 7
- UniProtKB:	A0A2R8Y6K6 (UniProtKB/TrEMBL)

RefSeq Acc Id:	NP_001397785 ⟸ NM_001410856
- Peptide Label:	isoform 8
- UniProtKB:	A0A8I5QKJ2 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054199403 ⟸ XM_054343428
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054199407 ⟸ XM_054343432
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054199408 ⟸ XM_054343433
- Peptide Label:	isoform X6

RefSeq Acc Id:	XP_054199405 ⟸ XM_054343430
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054199406 ⟸ XM_054343431
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054199409 ⟸ XM_054343434
- Peptide Label:	isoform X7

RefSeq Acc Id:	XP_054199404 ⟸ XM_054343429
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054199410 ⟸ XM_054343435
- Peptide Label:	isoform X4

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9H902-F1-model_v2	AlphaFold	Q9H902	1-201	view protein structure

Promoters

RGD ID:

6860942

Promoter ID:

EPDNEW_H3636

Type:

initiation region

Name:

REEP1_1

Description:

receptor accessory protein 1

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	2	86,337,626 - 86,337,686	EPDNEW

RGD ID:

6798069

Promoter ID:

HG_KWN:33612

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

NM_001164730, NM_001164731, NM_001164732, OTTHUMT00000252523, OTTHUMT00000329996, OTTHUMT00000329997, OTTHUMT00000329998, OTTHUMT00000329999, OTTHUMT00000330002, OTTHUMT00000343573

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	86,417,981 - 86,418,481 (-)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:25786	AgrOrtholog
COSMIC	REEP1	COSMIC
Ensembl Genes	ENSG00000068615	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000165698	ENTREZGENE
	ENST00000165698.9	UniProtKB/Swiss-Prot
	ENST00000453231	ENTREZGENE
	ENST00000453231.6	UniProtKB/Swiss-Prot
	ENST00000489855.2	UniProtKB/TrEMBL
	ENST00000535845	ENTREZGENE
	ENST00000535845.6	UniProtKB/Swiss-Prot
	ENST00000538924	ENTREZGENE
	ENST00000538924.7	UniProtKB/TrEMBL
	ENST00000541910	ENTREZGENE
	ENST00000541910.6	UniProtKB/Swiss-Prot
	ENST00000642243.1	UniProtKB/TrEMBL
	ENST00000643817	ENTREZGENE
	ENST00000643817.2	UniProtKB/TrEMBL
	ENST00000644644	ENTREZGENE
	ENST00000644644.1	UniProtKB/TrEMBL
	ENST00000686220.1	UniProtKB/TrEMBL
	ENST00000688400.1	UniProtKB/TrEMBL
	ENST00000689156	ENTREZGENE
	ENST00000689156.1	UniProtKB/TrEMBL
	ENST00000691093.1	UniProtKB/TrEMBL
	ENST00000691703	ENTREZGENE
	ENST00000691703.1	UniProtKB/TrEMBL
	ENST00000692664.1	UniProtKB/TrEMBL
	ENST00000693329.1	UniProtKB/TrEMBL
GTEx	ENSG00000068615	GTEx
HGNC ID	HGNC:25786	ENTREZGENE
Human Proteome Map	REEP1	Human Proteome Map
InterPro	TB2_DP1_HVA22	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:65055	UniProtKB/Swiss-Prot
NCBI Gene	65055	ENTREZGENE
OMIM	609139	OMIM
PANTHER	PTHR12300	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RECEPTOR EXPRESSION-ENHANCING PROTEIN 1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	TB2_DP1_HVA22	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134906680	PharmGKB
UniProt	A0A1C7CYY3	ENTREZGENE, UniProtKB/TrEMBL
	A0A2R8Y5P1_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y6K6	ENTREZGENE, UniProtKB/TrEMBL
	A0A2R8YD64	ENTREZGENE, UniProtKB/TrEMBL
	A0A8I5KQB8_HUMAN	UniProtKB/TrEMBL
	A0A8I5KQI3_HUMAN	UniProtKB/TrEMBL
	A0A8I5KRE1	ENTREZGENE, UniProtKB/TrEMBL
	A0A8I5KTB5_HUMAN	UniProtKB/TrEMBL
	A0A8I5KTX0_HUMAN	UniProtKB/TrEMBL
	A0A8I5KX93_HUMAN	UniProtKB/TrEMBL
	A0A8I5QKJ2	ENTREZGENE, UniProtKB/TrEMBL
	B7Z241	ENTREZGENE, UniProtKB/TrEMBL
	B7Z4D7	ENTREZGENE
	B7Z4F2	ENTREZGENE
	B7Z4H9	ENTREZGENE, UniProtKB/TrEMBL
	B7Z5R9	ENTREZGENE
	D6W5M2	ENTREZGENE
	Q53TI0	ENTREZGENE
	Q9H902	ENTREZGENE, UniProtKB/Swiss-Prot
	U3KPV7_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	B7Z4D7	UniProtKB/Swiss-Prot
	B7Z4F2	UniProtKB/Swiss-Prot
	B7Z5R9	UniProtKB/Swiss-Prot
	D6W5M2	UniProtKB/Swiss-Prot
	Q53TI0	UniProtKB/Swiss-Prot

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)

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Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

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Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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