NMNAT1 (nicotinamide nucleotide adenylyltransferase 1) - Rat Genome Database

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Gene: NMNAT1 (nicotinamide nucleotide adenylyltransferase 1) Homo sapiens
Analyze
Symbol: NMNAT1
Name: nicotinamide nucleotide adenylyltransferase 1
RGD ID: 1322215
HGNC Page HGNC:17877
Description: Enables identical protein binding activity; nicotinamide-nucleotide adenylyltransferase activity; and nicotinate-nucleotide adenylyltransferase activity. Involved in ATP generation from poly-ADP-D-ribose. Located in nuclear body. Implicated in Leber congenital amaurosis 9 and spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: LCA9; Leber's congenital amaurosis 9; NaMN adenylyltransferase 1; nicotinamide mononucleotide adenylyltransferase 1; nicotinamide-nucleotide adenylyltransferase 1; nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1; nicotinate-nucleotide adenylyltransferase 1; NMN adenylyltransferase 1; NMN/NaMN adenylyltransferase 1; NMNAT; PNAT1; pyridine nucleotide adenylyltransferase 1; SHILCA
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: NMNAT1P1   NMNAT1P2   NMNAT1P3   NMNAT1P4   NMNAT1P5  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3819,942,923 - 9,996,892 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl19,943,428 - 9,985,501 (+)EnsemblGRCh38hg38GRCh38
GRCh37110,002,981 - 10,045,556 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619,926,073 - 9,968,143 (+)NCBINCBI36Build 36hg18NCBI36
Build 3419,937,752 - 9,977,979NCBI
Celera19,114,519 - 9,156,598 (+)NCBICelera
Cytogenetic Map1p36.22NCBI
HuRef19,158,939 - 9,200,537 (+)NCBIHuRef
CHM1_119,992,303 - 10,034,914 (+)NCBICHM1_1
T2T-CHM13v2.019,485,828 - 9,539,839 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal auditory evoked potentials  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal full-field electroretinogram  (IAGP)
Abnormal optic disc morphology  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Aplasia/Hypoplasia of the cerebellar vermis  (IAGP)
Ataxia  (IAGP)
Attenuation of retinal blood vessels  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial hypotonia  (IAGP)
Biconcave vertebral bodies  (IAGP)
Bone spicule pigmentation of the retina  (IAGP)
Brain atrophy  (IAGP)
Cataract  (IAGP)
Central scotoma  (IAGP)
Cerebellar atrophy  (IAGP)
Cerebral atrophy  (IAGP)
Cervical myelopathy  (IAGP)
Childhood onset  (IAGP)
CNS hypomyelination  (IAGP)
Coarse facial features  (IAGP)
Color vision defect  (IAGP)
Cone dystrophy  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Delayed ability to walk  (IAGP)
Delayed CNS myelination  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental regression  (IAGP)
Diarrhea  (IAGP)
Dyschromatopsia  (IAGP)
Dyskinesia  (IAGP)
Encephalocele  (IAGP)
Exotropia  (IAGP)
Eye poking  (IAGP)
Gastrointestinal dysmotility  (IAGP)
Geographic atrophy  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
High hypermetropia  (IAGP)
High myopia  (IAGP)
Horizontal nystagmus  (IAGP)
Hypermetropia  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Irregular dentition  (IAGP)
Irregular epiphyses  (IAGP)
Keratoconus  (IAGP)
Leukoencephalopathy  (IAGP)
Macular atrophy  (IAGP)
Macular coloboma  (IAGP)
Macular hypopigmentation  (IAGP)
Macular scar  (IAGP)
Metamorphopsia  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Os odontoideum  (IAGP)
Photophobia  (IAGP)
Progressive visual loss  (IAGP)
Reduced visual acuity  (IAGP)
Retinal atrophy  (IAGP)
Retinal degeneration  (IAGP)
Retinal dots  (IAGP)
Retinal dystrophy  (IAGP)
Retinal pigment epithelial mottling  (IAGP)
Rod-cone dystrophy  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severely reduced visual acuity  (IAGP)
Short stature  (IAGP)
Spondyloepiphyseal dysplasia  (IAGP)
Synophrys  (IAGP)
Tetraparesis  (IAGP)
Ultra-low vision  (IAGP)
Ultra-low vision with retained light perception  (IAGP)
Undetectable electroretinogram  (IAGP)
Visual impairment  (IAGP)
Wide mouth  (IAGP)
Widened cerebellar subarachnoid space  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. The secret life of NAD+: an old metabolite controlling new metabolic signaling pathways. Houtkooper RH, etal., Endocr Rev. 2010 Apr;31(2):194-223. doi: 10.1210/er.2009-0026. Epub 2009 Dec 9.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Stimulation of nicotinamide adenine dinucleotide biosynthetic pathways delays axonal degeneration after axotomy. Sasaki Y, etal., J Neurosci. 2006 Aug 16;26(33):8484-91. doi: 10.1523/JNEUROSCI.2320-06.2006.
Additional References at PubMed
PMID:8125298   PMID:11027696   PMID:11248244   PMID:11751893   PMID:11752792   PMID:11788603   PMID:11891043   PMID:11959140   PMID:12359228   PMID:12477932   PMID:12574164   PMID:12734549  
PMID:14516279   PMID:14702039   PMID:14704851   PMID:15342556   PMID:15489334   PMID:16118205   PMID:17081983   PMID:17360427   PMID:17402747   PMID:18344983   PMID:19273075   PMID:19403820  
PMID:19458223   PMID:19478080   PMID:19490893   PMID:19913121   PMID:20301475   PMID:20379614   PMID:20388704   PMID:20457531   PMID:20628086   PMID:20926655   PMID:20954240   PMID:21071441  
PMID:21516116   PMID:21517775   PMID:21517776   PMID:21596138   PMID:21630459   PMID:21832049   PMID:21873635   PMID:21988832   PMID:22058226   PMID:22174317   PMID:22334709   PMID:22842227  
PMID:22842229   PMID:22842230   PMID:22842231   PMID:23351689   PMID:23737528   PMID:23940504   PMID:23968695   PMID:24378760   PMID:24722188   PMID:24830548   PMID:24940029   PMID:24981860  
PMID:25416956   PMID:25502805   PMID:25693804   PMID:25988908   PMID:26018082   PMID:26186194   PMID:26316326   PMID:26464178   PMID:26496610   PMID:26871637   PMID:26949251   PMID:27107014  
PMID:27257257   PMID:27432908   PMID:28077445   PMID:28369829   PMID:28514442   PMID:29117863   PMID:29121065   PMID:29184169   PMID:29395067   PMID:29509190   PMID:29568061   PMID:30004997  
PMID:30285347   PMID:30471916   PMID:30997501   PMID:31048545   PMID:31343991   PMID:31515488   PMID:31586073   PMID:32296183   PMID:32533184   PMID:32694731   PMID:32780723   PMID:32807901  
PMID:33301849   PMID:33961781   PMID:34079125   PMID:34243968   PMID:34290089   PMID:34316702   PMID:34732716   PMID:34837036   PMID:34857952   PMID:35271311   PMID:35915203   PMID:35945219  
PMID:36089195   PMID:36244648   PMID:36526897   PMID:36629882   PMID:36871412   PMID:38467179   PMID:39446354  


Genomics

Comparative Map Data
NMNAT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3819,942,923 - 9,996,892 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl19,943,428 - 9,985,501 (+)EnsemblGRCh38hg38GRCh38
GRCh37110,002,981 - 10,045,556 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3619,926,073 - 9,968,143 (+)NCBINCBI36Build 36hg18NCBI36
Build 3419,937,752 - 9,977,979NCBI
Celera19,114,519 - 9,156,598 (+)NCBICelera
Cytogenetic Map1p36.22NCBI
HuRef19,158,939 - 9,200,537 (+)NCBIHuRef
CHM1_119,992,303 - 10,034,914 (+)NCBICHM1_1
T2T-CHM13v2.019,485,828 - 9,539,839 (+)NCBIT2T-CHM13v2.0
Nmnat1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394149,552,026 - 149,569,667 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4149,552,029 - 149,569,659 (-)EnsemblGRCm39 Ensembl
GRCm384149,467,569 - 149,485,210 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4149,467,572 - 149,485,202 (-)EnsemblGRCm38mm10GRCm38
MGSCv374148,842,896 - 148,859,251 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364148,312,587 - 148,328,942 (-)NCBIMGSCv36mm8
Celera4151,732,264 - 151,748,554 (-)NCBICelera
Cytogenetic Map4E2NCBI
cM Map479.47NCBI
Nmnat1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85165,193,301 - 165,211,213 (-)NCBIGRCr8
mRatBN7.25159,910,242 - 159,928,201 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5159,910,242 - 159,928,180 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5162,626,872 - 162,644,786 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05164,446,857 - 164,464,893 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05164,403,219 - 164,421,255 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05166,409,460 - 166,430,291 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5166,409,461 - 166,430,254 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05170,057,406 - 170,076,545 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45166,548,899 - 166,567,266 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15166,560,236 - 166,569,740 (-)NCBI
Celera5158,179,840 - 158,197,813 (-)NCBICelera
Cytogenetic Map5q36NCBI
Nmnat1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554863,637,794 - 3,655,598 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554863,637,794 - 3,655,744 (-)NCBIChiLan1.0ChiLan1.0
NMNAT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21218,229,238 - 218,276,060 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11216,879,808 - 216,921,711 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v018,712,798 - 8,753,027 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.119,942,491 - 9,982,369 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl19,942,491 - 9,982,364 (+)Ensemblpanpan1.1panPan2
NMNAT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1563,122,379 - 63,152,078 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl563,122,498 - 63,151,661 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha563,137,192 - 63,167,170 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0563,348,554 - 63,379,178 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl563,349,103 - 63,379,006 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1563,369,458 - 63,399,943 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0563,209,144 - 63,239,504 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0563,612,791 - 63,643,286 (+)NCBIUU_Cfam_GSD_1.0
Nmnat1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505833,377,149 - 33,406,723 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366233,870,031 - 3,891,849 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366233,862,234 - 3,891,849 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NMNAT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl670,272,014 - 70,310,707 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1670,271,296 - 70,307,403 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2664,326,981 - 64,334,151 (+)NCBISscrofa10.2Sscrofa10.2susScr3
NMNAT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.120121,790,836 - 121,797,043 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605425,709,816 - 25,751,201 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nmnat1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248182,573,498 - 2,580,095 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248182,575,476 - 2,591,423 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NMNAT1
180 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NMNAT1, TRP169TER variation Leber congenital amaurosis 9 [RCV000030768] Chr1:1p36.22 pathogenic
NM_022787.4(NMNAT1):c.838T>C (p.Ter280Gln) single nucleotide variant Leber congenital amaurosis 9 [RCV000030763] Chr1:9982699 [GRCh38]
Chr1:10042757 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.619C>T (p.Arg207Trp) single nucleotide variant Leber congenital amaurosis 9 [RCV000030764]|not provided [RCV001090803] Chr1:9982480 [GRCh38]
Chr1:10042538 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) single nucleotide variant Global developmental delay [RCV001003567]|Inborn genetic diseases [RCV004639123]|Leber congenital amaurosis 9 [RCV000030765]|Leber congenital amaurosis [RCV000504859]|Retinal dystrophy [RCV001075816]|not provided [RCV000255806] Chr1:9982630 [GRCh38]
Chr1:10042688 [GRCh37]
Chr1:1p36.22
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_022787.4(NMNAT1):c.817A>G (p.Asn273Asp) single nucleotide variant Leber congenital amaurosis 9 [RCV000030766] Chr1:9982678 [GRCh38]
Chr1:10042736 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.451G>T (p.Val151Phe) single nucleotide variant Leber congenital amaurosis 9 [RCV000030767] Chr1:9982312 [GRCh38]
Chr1:10042370 [GRCh37]
Chr1:1p36.22
pathogenic|uncertain significance
NM_022787.4(NMNAT1):c.710G>T (p.Arg237Leu) single nucleotide variant Leber congenital amaurosis 9 [RCV000030769] Chr1:9982571 [GRCh38]
Chr1:10042629 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.457C>G (p.Leu153Val) single nucleotide variant Leber congenital amaurosis 9 [RCV000030770] Chr1:9982318 [GRCh38]
Chr1:10042376 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.25G>A (p.Val9Met) single nucleotide variant Leber congenital amaurosis 9 [RCV000030771] Chr1:9972098 [GRCh38]
Chr1:10032156 [GRCh37]
Chr1:1p36.22
pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3 copy number gain See cases [RCV000051794] Chr1:6652339..12724844 [GRCh38]
Chr1:6712399..12784811 [GRCh37]
Chr1:6634986..12707398 [NCBI36]
Chr1:1p36.31-36.21
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]|See cases [RCV000051795] Chr1:6853513..17326813 [GRCh38]
Chr1:6913573..17685411 [GRCh37]
Chr1:6836160..17557998 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]|See cases [RCV000052038] Chr1:844347..10809098 [GRCh38]
Chr1:779727..10869155 [GRCh37]
Chr1:769590..10791742 [NCBI36]
Chr1:1p36.33-36.22
pathogenic
GRCh38/hg38 1p36.31-36.22(chr1:5682528-10863843)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053730]|See cases [RCV000053730] Chr1:5682528..10863843 [GRCh38]
Chr1:5742588..10923900 [GRCh37]
Chr1:5665175..10846487 [NCBI36]
Chr1:1p36.31-36.22
pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]|See cases [RCV000053713] Chr1:2963330..12666744 [GRCh38]
Chr1:2879895..12726755 [GRCh37]
Chr1:2869755..12649342 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 copy number loss See cases [RCV000053714] Chr1:3006193..17688934 [GRCh38]
Chr1:2922757..18015429 [GRCh37]
Chr1:2912617..17888016 [NCBI36]
Chr1:1p36.32-36.13
pathogenic
GRCh38/hg38 1p36.32-36.22(chr1:3319336-11243395)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053716]|See cases [RCV000053716] Chr1:3319336..11243395 [GRCh38]
Chr1:3235900..11303452 [GRCh37]
Chr1:3225760..11226039 [NCBI36]
Chr1:1p36.32-36.22
pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 copy number loss See cases [RCV000053724] Chr1:4898439..13111056 [GRCh38]
Chr1:4958499..13178528 [GRCh37]
Chr1:4858359..13101115 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1 copy number loss See cases [RCV000053755] Chr1:7165036..13111056 [GRCh38]
Chr1:7225096..13178528 [GRCh37]
Chr1:7147683..13101115 [NCBI36]
Chr1:1p36.23-36.21
pathogenic
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1 copy number loss See cases [RCV000053756] Chr1:9034671..16441465 [GRCh38]
Chr1:9094730..16767960 [GRCh37]
Chr1:9017317..16640547 [NCBI36]
Chr1:1p36.23-36.13
pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:9406722-12852772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]|See cases [RCV000053757] Chr1:9406722..12852772 [GRCh38]
Chr1:9466781..12912625 [GRCh37]
Chr1:9389368..12835212 [NCBI36]
Chr1:1p36.22-36.21
pathogenic
NM_022787.3(NMNAT1):c.695G>A (p.Arg232Lys) single nucleotide variant Malignant melanoma [RCV000064974] Chr1:9982556 [GRCh38]
Chr1:10042614 [GRCh37]
Chr1:9965201 [NCBI36]
Chr1:1p36.22
not provided
NM_022787.4(NMNAT1):c.53A>G (p.Asn18Ser) single nucleotide variant Leber congenital amaurosis 9 [RCV001256641]|Retinal dystrophy [RCV001075815]|not provided [RCV000171148] Chr1:9972126 [GRCh38]
Chr1:10032184 [GRCh37]
Chr1:1p36.22
pathogenic|likely pathogenic|no classifications from unflagged records
NM_022787.4(NMNAT1):c.556G>A (p.Val186Ile) single nucleotide variant Leber congenital amaurosis 9 [RCV001312417] Chr1:9982417 [GRCh38]
Chr1:10042475 [GRCh37]
Chr1:1p36.22
uncertain significance
GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1 copy number loss See cases [RCV000133779] Chr1:9064492..12666744 [GRCh38]
Chr1:9124551..12726755 [GRCh37]
Chr1:9047138..12649342 [NCBI36]
Chr1:1p36.23-36.21
pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1 copy number loss See cases [RCV000135807] Chr1:8283694..12470133 [GRCh38]
Chr1:8343754..12530188 [GRCh37]
Chr1:8266341..12452775 [NCBI36]
Chr1:1p36.23-36.22
pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3 copy number gain See cases [RCV000137134] Chr1:8804244..10102950 [GRCh38]
Chr1:8864303..10163008 [GRCh37]
Chr1:8786890..10085595 [NCBI36]
Chr1:1p36.23-36.22
uncertain significance
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 copy number loss See cases [RCV000136695] Chr1:844347..12470133 [GRCh38]
Chr1:779727..12530188 [GRCh37]
Chr1:769590..12452775 [NCBI36]
Chr1:1p36.33-36.22
pathogenic|likely pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 copy number loss See cases [RCV000137461] Chr1:4898439..12911913 [GRCh38]
Chr1:4958499..12971757 [GRCh37]
Chr1:4858359..12894344 [NCBI36]
Chr1:1p36.32-36.21
pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 copy number loss See cases [RCV000137948] Chr1:6303641..15799093 [GRCh38]
Chr1:6363701..16125588 [GRCh37]
Chr1:6286288..15998175 [NCBI36]
Chr1:1p36.31-36.21
pathogenic|likely benign
GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1 copy number loss See cases [RCV000140873] Chr1:9428538..15815791 [GRCh38]
Chr1:9488597..16142286 [GRCh37]
Chr1:9411184..16014873 [NCBI36]
Chr1:1p36.22-36.21
pathogenic
GRCh38/hg38 1p36.22(chr1:9378480-10317912)x3 copy number gain See cases [RCV000141821] Chr1:9378480..10317912 [GRCh38]
Chr1:9438539..10377970 [GRCh37]
Chr1:9361126..10300557 [NCBI36]
Chr1:1p36.22
uncertain significance
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 copy number gain See cases [RCV000142906] Chr1:6554885..16056011 [GRCh38]
Chr1:6614945..16382506 [GRCh37]
Chr1:6537532..16255093 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 copy number loss See cases [RCV000142771] Chr1:5363826..18360302 [GRCh38]
Chr1:5423886..18686796 [GRCh37]
Chr1:5323746..18559383 [NCBI36]
Chr1:1p36.31-36.13
pathogenic
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr) single nucleotide variant Leber congenital amaurosis 9 [RCV001256640]|Retinal dystrophy [RCV001074101]|not provided [RCV000175940] Chr1:9972110 [GRCh38]
Chr1:10032168 [GRCh37]
Chr1:1p36.22
pathogenic|likely pathogenic|likely benign|uncertain significance
NM_022787.4(NMNAT1):c.507G>A (p.Trp169Ter) single nucleotide variant Inborn genetic diseases [RCV004649113]|Leber congenital amaurosis 9 [RCV000030768]|not provided [RCV000255071] Chr1:9982368 [GRCh38]
Chr1:10042426 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.599C>T (p.Ser200Leu) single nucleotide variant Leber congenital amaurosis 9 [RCV001229158] Chr1:9982460 [GRCh38]
Chr1:10042518 [GRCh37]
Chr1:1p36.22
uncertain significance
NC_000001.11:g.(?_9981011)_(9982721_?)del deletion Leber congenital amaurosis 9 [RCV000526077] Chr1:9981011..9982721 [GRCh38]
Chr1:10041069..10042779 [GRCh37]
Chr1:1p36.22
pathogenic
Single allele complex Breast ductal adenocarcinoma [RCV000207058] Chr1:909238..24706269 [GRCh37]
Chr1:1p36.33-36.11
uncertain significance
chr1:909238-16736132 complex variant complex Breast ductal adenocarcinoma [RCV000207094] Chr1:909238..16736132 [GRCh37]
Chr1:1p36.33-36.13
uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1 copy number loss See cases [RCV000239416] Chr1:82154..12699337 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3 copy number gain See cases [RCV000240284] Chr1:8255222..12785220 [GRCh37]
Chr1:1p36.23-36.21
likely pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1 copy number loss See cases [RCV000240403] Chr1:746608..15077159 [GRCh37]
Chr1:1p36.33-36.21
pathogenic
NM_022787.4(NMNAT1):c.827A>C (p.Glu276Ala) single nucleotide variant Leber congenital amaurosis 9 [RCV000530835] Chr1:9982688 [GRCh38]
Chr1:10042746 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.109G>A (p.Gly37Arg) single nucleotide variant not provided [RCV000487717] Chr1:9972182 [GRCh38]
Chr1:10032240 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.710G>A (p.Arg237His) single nucleotide variant not provided [RCV000415779] Chr1:9982571 [GRCh38]
Chr1:10042629 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_001297778.1(NMNAT1):c.(115+1_116-1)_(299+1_300-1)del deletion Retinal dystrophy [RCV000416284] Chr1:1p36.22 likely pathogenic
GRCh37/hg19 1p36.32-36.22(chr1:2817420-10670878)x1 copy number loss See cases [RCV000449468] Chr1:2817420..10670878 [GRCh37]
Chr1:1p36.32-36.22
pathogenic
GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1 copy number loss See cases [RCV000446359] Chr1:4558588..13187457 [GRCh37]
Chr1:1p36.32-36.21
pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1 copy number loss See cases [RCV000446470] Chr1:2749920..22564787 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
NM_022787.4(NMNAT1):c.485C>A (p.Ser162Tyr) single nucleotide variant Leber congenital amaurosis [RCV000504848] Chr1:9982346 [GRCh38]
Chr1:10042404 [GRCh37]
Chr1:1p36.22
likely pathogenic
NM_022787.4(NMNAT1):c.661dup (p.Ile221fs) duplication Leber congenital amaurosis [RCV000504964] Chr1:9982521..9982522 [GRCh38]
Chr1:10042579..10042580 [GRCh37]
Chr1:1p36.22
likely pathogenic
NM_022787.4(NMNAT1):c.155G>T (p.Gly52Val) single nucleotide variant Leber congenital amaurosis 9 [RCV001314168]|Leber congenital amaurosis [RCV000504653] Chr1:9975631 [GRCh38]
Chr1:10035689 [GRCh37]
Chr1:1p36.22
likely pathogenic|uncertain significance
NM_022787.4(NMNAT1):c.736G>C (p.Glu246Gln) single nucleotide variant Leber congenital amaurosis [RCV000504672] Chr1:9982597 [GRCh38]
Chr1:10042655 [GRCh37]
Chr1:1p36.22
likely pathogenic
GRCh37/hg19 1p36.23-36.22(chr1:7301946-11143298)x3 copy number gain See cases [RCV000448222] Chr1:7301946..11143298 [GRCh37]
Chr1:1p36.23-36.22
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_022787.4(NMNAT1):c.716T>C (p.Leu239Ser) single nucleotide variant Leber congenital amaurosis 9 [RCV000538650] Chr1:9982577 [GRCh38]
Chr1:10042635 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.115+3A>G single nucleotide variant Leber congenital amaurosis 9 [RCV000625321]|NMNAT1-related disorder [RCV003905671]|not provided [RCV003424194]|not specified [RCV001700421] Chr1:9972191 [GRCh38]
Chr1:10032249 [GRCh37]
Chr1:1p36.22
benign|likely benign
GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1 copy number loss See cases [RCV000512226] Chr1:8850514..16272383 [GRCh37]
Chr1:1p36.23-36.13
likely pathogenic
NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys) single nucleotide variant Cone dystrophy [RCV000664187]|Leber congenital amaurosis 9 [RCV001372429] Chr1:9975747 [GRCh38]
Chr1:10035805 [GRCh37]
Chr1:1p36.22
pathogenic|likely pathogenic
GRCh37/hg19 1p36.22(chr1:9723166-10340866)x3 copy number gain not provided [RCV000684548] Chr1:9723166..10340866 [GRCh37]
Chr1:1p36.22
uncertain significance
GRCh37/hg19 1p36.22(chr1:9973927-10036047)x1 copy number loss not provided [RCV000684549] Chr1:9973927..10036047 [GRCh37]
Chr1:1p36.22
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NC_000001.11:g.(?_9972074)_(9981247_?)dup duplication Leber congenital amaurosis 9 [RCV001031840] Chr1:10032132..10041305 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.199G>T (p.Val67Phe) single nucleotide variant Leber congenital amaurosis 9 [RCV001862682]|not provided [RCV001090801] Chr1:9975675 [GRCh38]
Chr1:10035733 [GRCh37]
Chr1:1p36.22
pathogenic|uncertain significance
NM_022787.4(NMNAT1):c.764G>A (p.Ser255Asn) single nucleotide variant Leber congenital amaurosis 9 [RCV001002029] Chr1:9982625 [GRCh38]
Chr1:10042683 [GRCh37]
Chr1:1p36.22
benign|likely benign
NM_022787.4(NMNAT1):c.104T>C (p.Met35Thr) single nucleotide variant Retinal dystrophy [RCV001075383] Chr1:9972177 [GRCh38]
Chr1:10032235 [GRCh37]
Chr1:1p36.22
likely pathogenic
NC_000001.11:g.(?_9981031)_(9982701_?)dup duplication Leber congenital amaurosis 9 [RCV004584025] Chr1:10041089..10042759 [GRCh37]
Chr1:1p36.22
pathogenic|uncertain significance
NM_022787.4(NMNAT1):c.-71G>C single nucleotide variant Retinal dystrophy [RCV001073535] Chr1:9943501 [GRCh38]
Chr1:10003559 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.205A>T (p.Met69Leu) single nucleotide variant Leber congenital amaurosis 9 [RCV000787026] Chr1:9975681 [GRCh38]
Chr1:10035739 [GRCh37]
Chr1:1p36.22
likely pathogenic
NM_022787.4(NMNAT1):c.747A>G (p.Glu249=) single nucleotide variant Leber congenital amaurosis 9 [RCV002537604] Chr1:9982608 [GRCh38]
Chr1:10042666 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.23A>C (p.Glu8Ala) single nucleotide variant Inborn genetic diseases [RCV004649392]|Leber congenital amaurosis 9 [RCV000981760] Chr1:9972096 [GRCh38]
Chr1:10032154 [GRCh37]
Chr1:1p36.22
benign|uncertain significance
GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1 copy number loss not provided [RCV001005065] Chr1:9852396..11909475 [GRCh37]
Chr1:1p36.22
likely pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1 copy number loss See cases [RCV000790592] Chr1:82154..11784118 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
NM_022787.4(NMNAT1):c.493G>A (p.Val165Ile) single nucleotide variant Inborn genetic diseases [RCV002550566]|Leber congenital amaurosis 9 [RCV000981705]|NMNAT1-related disorder [RCV003962951]|not provided [RCV004711489] Chr1:9982354 [GRCh38]
Chr1:10042412 [GRCh37]
Chr1:1p36.22
likely benign|uncertain significance
NM_022787.4(NMNAT1):c.634G>A (p.Val212Met) single nucleotide variant Leber congenital amaurosis 9 [RCV001376488]|not provided [RCV001090804] Chr1:9982495 [GRCh38]
Chr1:10042553 [GRCh37]
Chr1:1p36.22
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_022787.4(NMNAT1):c.532G>A (p.Val178Met) single nucleotide variant Leber congenital amaurosis 9 [RCV001223249] Chr1:9982393 [GRCh38]
Chr1:10042451 [GRCh37]
Chr1:1p36.22
likely pathogenic|uncertain significance
NM_022787.4(NMNAT1):c.163T>A (p.Tyr55Asn) single nucleotide variant Leber congenital amaurosis 9 [RCV001240307] Chr1:9975639 [GRCh38]
Chr1:10035697 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.299G>A (p.Arg100Lys) single nucleotide variant Leber congenital amaurosis 9 [RCV001221606] Chr1:9975775 [GRCh38]
Chr1:10035833 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.13G>A (p.Glu5Lys) single nucleotide variant Leber congenital amaurosis 9 [RCV001241800] Chr1:9972086 [GRCh38]
Chr1:10032144 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.78G>A (p.Arg26=) single nucleotide variant Leber congenital amaurosis 9 [RCV002066335] Chr1:9972151 [GRCh38]
Chr1:10032209 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.447A>C (p.Pro149=) single nucleotide variant not provided [RCV000926901] Chr1:9982308 [GRCh38]
Chr1:10042366 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.629T>C (p.Ile210Thr) single nucleotide variant Leber congenital amaurosis [RCV001199715] Chr1:9982490 [GRCh38]
Chr1:10042548 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.370G>A (p.Gly124Arg) single nucleotide variant Leber congenital amaurosis 9 [RCV001230292] Chr1:9981101 [GRCh38]
Chr1:10041159 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.473A>T (p.Asp158Val) single nucleotide variant Leber congenital amaurosis 9 [RCV001202762] Chr1:9982334 [GRCh38]
Chr1:10042392 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.364del (p.Arg122fs) deletion Leber congenital amaurosis 9 [RCV001256643]|not provided [RCV001090802] Chr1:9981093 [GRCh38]
Chr1:10041151 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.709C>T (p.Arg237Cys) single nucleotide variant Leber congenital amaurosis 9 [RCV001048869]|Retinal dystrophy [RCV001073738] Chr1:9982570 [GRCh38]
Chr1:10042628 [GRCh37]
Chr1:1p36.22
pathogenic|likely pathogenic
NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly) single nucleotide variant Leber congenital amaurosis 9 [RCV001256659]|Retinal dystrophy [RCV001074108]|Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis [RCV002221606]|not provided [RCV001551709] Chr1:9975769 [GRCh38]
Chr1:10035827 [GRCh37]
Chr1:1p36.22
pathogenic|likely pathogenic
NM_022787.4(NMNAT1):c.471A>G (p.Ala157=) single nucleotide variant Leber congenital amaurosis 9 [RCV001001280] Chr1:9982332 [GRCh38]
Chr1:10042390 [GRCh37]
Chr1:1p36.22
benign|likely benign
NC_000001.10:g.(?_9770494)_(10690064_?)del deletion Immunodeficiency 14 [RCV001031897] Chr1:9770494..10690064 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.205A>G (p.Met69Val) single nucleotide variant Leber congenital amaurosis 9 [RCV001248040] Chr1:9975681 [GRCh38]
Chr1:10035739 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.680G>A (p.Arg227Gln) single nucleotide variant Cone-rod dystrophy [RCV001199714]|Leber congenital amaurosis 9 [RCV001862732]|Retinal dystrophy [RCV001073398] Chr1:9982541 [GRCh38]
Chr1:10042599 [GRCh37]
Chr1:1p36.22
pathogenic|likely pathogenic|uncertain significance
NM_022787.4(NMNAT1):c.837A>G (p.Thr279=) single nucleotide variant Leber congenital amaurosis 9 [RCV001053118] Chr1:9982698 [GRCh38]
Chr1:10042756 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.179T>G (p.Leu60Arg) single nucleotide variant Leber congenital amaurosis 9 [RCV001256642] Chr1:9975655 [GRCh38]
Chr1:10035713 [GRCh37]
Chr1:1p36.22
likely pathogenic
NC_000001.11:g.(?_9972074)_(9975775_?)del deletion Leber congenital amaurosis 9 [RCV001256655] Chr1:9972074..9975775 [GRCh38]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.376A>T (p.Lys126Ter) single nucleotide variant Leber congenital amaurosis 9 [RCV001256661] Chr1:9981107 [GRCh38]
Chr1:10041165 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.518A>G (p.Asp173Gly) single nucleotide variant Leber congenital amaurosis 9 [RCV001256664] Chr1:9982379 [GRCh38]
Chr1:10042437 [GRCh37]
Chr1:1p36.22
likely pathogenic
NM_022787.4(NMNAT1):c.647G>C (p.Trp216Ser) single nucleotide variant Leber congenital amaurosis 9 [RCV001256666] Chr1:9982508 [GRCh38]
Chr1:10042566 [GRCh37]
Chr1:1p36.22
likely pathogenic
NM_022787.4(NMNAT1):c.-69C>T single nucleotide variant Leber congenital amaurosis 9 [RCV001256639] Chr1:9943503 [GRCh38]
Chr1:10003561 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.717G>T (p.Leu239Phe) single nucleotide variant Leber congenital amaurosis 9 [RCV001256646] Chr1:9982578 [GRCh38]
Chr1:10042636 [GRCh37]
Chr1:1p36.22
likely pathogenic
NM_022787.4(NMNAT1):c.500A>T (p.Asn167Ile) single nucleotide variant Leber congenital amaurosis 9 [RCV001256647] Chr1:9982361 [GRCh38]
Chr1:10042419 [GRCh37]
Chr1:1p36.22
likely pathogenic
NM_022787.4(NMNAT1):c.244G>T (p.Val82Phe) single nucleotide variant Leber congenital amaurosis 9 [RCV001256658] Chr1:9975720 [GRCh38]
Chr1:10035778 [GRCh37]
Chr1:1p36.22
likely pathogenic
NM_022787.4(NMNAT1):c.319G>T (p.Glu107Ter) single nucleotide variant Leber congenital amaurosis 9 [RCV001256660] Chr1:9981050 [GRCh38]
Chr1:10041108 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.752A>C (p.His251Pro) single nucleotide variant Leber congenital amaurosis 9 [RCV001256667] Chr1:9982613 [GRCh38]
Chr1:10042671 [GRCh37]
Chr1:1p36.22
likely pathogenic|uncertain significance
NM_022787.4(NMNAT1):c.458T>C (p.Leu153Pro) single nucleotide variant Leber congenital amaurosis 9 [RCV001256644] Chr1:9982319 [GRCh38]
Chr1:10042377 [GRCh37]
Chr1:1p36.22
likely pathogenic
NM_022787.4(NMNAT1):c.439G>C (p.Ala147Pro) single nucleotide variant Leber congenital amaurosis 9 [RCV001256662] Chr1:9981170 [GRCh38]
Chr1:10041228 [GRCh37]
Chr1:1p36.22
likely pathogenic
NM_022787.4(NMNAT1):c.542A>G (p.Tyr181Cys) single nucleotide variant Leber congenital amaurosis 9 [RCV001256645] Chr1:9982403 [GRCh38]
Chr1:10042461 [GRCh37]
Chr1:1p36.22
likely pathogenic|uncertain significance
NM_022787.4(NMNAT1):c.-57+4A>G single nucleotide variant Leber congenital amaurosis 9 [RCV001256652] Chr1:9943519 [GRCh38]
Chr1:10003577 [GRCh37]
Chr1:1p36.22
likely pathogenic
NM_022787.4(NMNAT1):c.238G>A (p.Val80Met) single nucleotide variant Leber congenital amaurosis 9 [RCV001256657] Chr1:9975714 [GRCh38]
Chr1:10035772 [GRCh37]
Chr1:1p36.22
likely pathogenic
NM_022787.4(NMNAT1):c.-57+10C>T single nucleotide variant Leber congenital amaurosis 9 [RCV001256648] Chr1:9943525 [GRCh38]
Chr1:10003583 [GRCh37]
Chr1:1p36.22
likely pathogenic
NM_022787.4(NMNAT1):c.650T>A (p.Ile217Asn) single nucleotide variant Leber congenital amaurosis 9 [RCV001256650] Chr1:9982511 [GRCh38]
Chr1:10042569 [GRCh37]
Chr1:1p36.22
likely pathogenic
NM_022787.4(NMNAT1):c.439+1G>C single nucleotide variant Leber congenital amaurosis 9 [RCV001256663] Chr1:9981171 [GRCh38]
Chr1:10041229 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.593A>G (p.Tyr198Cys) single nucleotide variant Leber congenital amaurosis 9 [RCV001256649] Chr1:9982454 [GRCh38]
Chr1:10042512 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.-72G>A single nucleotide variant Leber congenital amaurosis 9 [RCV001256651] Chr1:9943500 [GRCh38]
Chr1:10003558 [GRCh37]
Chr1:1p36.22
likely pathogenic
NM_022787.4(NMNAT1):c.643G>T (p.Glu215Ter) single nucleotide variant Leber congenital amaurosis 9 [RCV001256665] Chr1:9982504 [GRCh38]
Chr1:10042562 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.1A>G (p.Met1Val) single nucleotide variant Leber congenital amaurosis 9 [RCV001256656] Chr1:9972074 [GRCh38]
Chr1:10032132 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.-57G>T single nucleotide variant Leber congenital amaurosis 9 [RCV001256653] Chr1:9943515 [GRCh38]
Chr1:10003573 [GRCh37]
Chr1:1p36.22
likely pathogenic
NC_000001.11:g.(?_9972074)_(9972188_?)del deletion Leber congenital amaurosis 9 [RCV001256654] Chr1:9972074..9972188 [GRCh38]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.387G>T (p.Trp129Cys) single nucleotide variant Leber congenital amaurosis 9 [RCV001301650] Chr1:9981118 [GRCh38]
Chr1:10041176 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.500A>G (p.Asn167Ser) single nucleotide variant Leber congenital amaurosis 9 [RCV001372427]|not provided [RCV001780269] Chr1:9982361 [GRCh38]
Chr1:10042419 [GRCh37]
Chr1:1p36.22
pathogenic|likely pathogenic
NM_022787.4(NMNAT1):c.245T>C (p.Val82Ala) single nucleotide variant Leber congenital amaurosis 9 [RCV001372430]|Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis [RCV003339625] Chr1:9975721 [GRCh38]
Chr1:10035779 [GRCh37]
Chr1:1p36.22
pathogenic|likely pathogenic
NM_022787.4(NMNAT1):c.106A>G (p.Asn36Asp) single nucleotide variant Leber congenital amaurosis 9 [RCV001361669] Chr1:9972179 [GRCh38]
Chr1:10032237 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.589A>G (p.Ile197Val) single nucleotide variant Leber congenital amaurosis 9 [RCV001369067] Chr1:9982450 [GRCh38]
Chr1:10042508 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.299+526_*968dup duplication Leber congenital amaurosis 9 [RCV001358653]|Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis [RCV001358652] Chr1:9976248..9976249 [GRCh38]
Chr1:10036306..10036307 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.833A>C (p.Lys278Thr) single nucleotide variant Inborn genetic diseases [RCV002550023]|Leber congenital amaurosis 9 [RCV001362039] Chr1:9982694 [GRCh38]
Chr1:10042752 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.184C>A (p.Pro62Thr) single nucleotide variant Leber congenital amaurosis 9 [RCV001344745] Chr1:9975660 [GRCh38]
Chr1:10035718 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.516A>T (p.Glu172Asp) single nucleotide variant Leber congenital amaurosis 9 [RCV001324028] Chr1:9982377 [GRCh38]
Chr1:10042435 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.547C>T (p.Leu183Phe) single nucleotide variant Leber congenital amaurosis 9 [RCV001340858]|not provided [RCV003132433] Chr1:9982408 [GRCh38]
Chr1:10042466 [GRCh37]
Chr1:1p36.22
likely pathogenic|uncertain significance
NM_022787.4(NMNAT1):c.793G>A (p.Val265Ile) single nucleotide variant Leber congenital amaurosis 9 [RCV001344158] Chr1:9982654 [GRCh38]
Chr1:10042712 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.763A>G (p.Ser255Gly) single nucleotide variant Leber congenital amaurosis 9 [RCV001347287] Chr1:9982624 [GRCh38]
Chr1:10042682 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.22G>A (p.Glu8Lys) single nucleotide variant Leber congenital amaurosis 9 [RCV001322712] Chr1:9972095 [GRCh38]
Chr1:10032153 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.512G>A (p.Ser171Asn) single nucleotide variant Inborn genetic diseases [RCV003246864]|Leber congenital amaurosis 9 [RCV001309383] Chr1:9982373 [GRCh38]
Chr1:10042431 [GRCh37]
Chr1:1p36.22
uncertain significance
NC_000001.10:g.(?_10041089)_(10042759_?)dup duplication Leber congenital amaurosis 9 [RCV001301195] Chr1:10041089..10042759 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.610T>G (p.Trp204Gly) single nucleotide variant Leber congenital amaurosis 9 [RCV001325237] Chr1:9982471 [GRCh38]
Chr1:10042529 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.206T>A (p.Met69Lys) single nucleotide variant Leber congenital amaurosis 9 [RCV001298280] Chr1:9975682 [GRCh38]
Chr1:10035740 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.664T>A (p.Ser222Thr) single nucleotide variant Leber congenital amaurosis 9 [RCV001369006] Chr1:9982525 [GRCh38]
Chr1:10042583 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.439+5G>T single nucleotide variant Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis [RCV001358654] Chr1:9981175 [GRCh38]
Chr1:10041233 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.366G>A (p.Arg122=) single nucleotide variant Leber congenital amaurosis 9 [RCV001486126] Chr1:9981097 [GRCh38]
Chr1:10041155 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.440-16G>T single nucleotide variant Leber congenital amaurosis 9 [RCV001517051] Chr1:9982285 [GRCh38]
Chr1:10042343 [GRCh37]
Chr1:1p36.22
benign
NM_022787.4(NMNAT1):c.531C>T (p.Ile177=) single nucleotide variant Leber congenital amaurosis 9 [RCV001474727] Chr1:9982392 [GRCh38]
Chr1:10042450 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.126A>G (p.Thr42=) single nucleotide variant Leber congenital amaurosis 9 [RCV001427239] Chr1:9975602 [GRCh38]
Chr1:10035660 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.66C>T (p.Asn22=) single nucleotide variant Leber congenital amaurosis 9 [RCV001446289] Chr1:9972139 [GRCh38]
Chr1:10032197 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.196C>T (p.Arg66Trp) single nucleotide variant Leber congenital amaurosis 9 [RCV001381857] Chr1:9975672 [GRCh38]
Chr1:10035730 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.316T>C (p.Leu106=) single nucleotide variant Leber congenital amaurosis 9 [RCV001398711] Chr1:9981047 [GRCh38]
Chr1:10041105 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.300-5T>C single nucleotide variant Leber congenital amaurosis 9 [RCV001402894] Chr1:9981026 [GRCh38]
Chr1:10041084 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.372A>G (p.Gly124=) single nucleotide variant Leber congenital amaurosis 9 [RCV001461980] Chr1:9981103 [GRCh38]
Chr1:10041161 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.115+8C>G single nucleotide variant Leber congenital amaurosis 9 [RCV001453345] Chr1:9972196 [GRCh38]
Chr1:10032254 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.12C>T (p.Ser4=) single nucleotide variant Leber congenital amaurosis 9 [RCV001487168] Chr1:9972085 [GRCh38]
Chr1:10032143 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.651C>T (p.Ile217=) single nucleotide variant Leber congenital amaurosis 9 [RCV001457379] Chr1:9982512 [GRCh38]
Chr1:10042570 [GRCh37]
Chr1:1p36.22
likely benign
NC_000001.10:g.(?_10027411)_(10042759_?)del deletion Leber congenital amaurosis 9 [RCV001384016] Chr1:10027411..10042759 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.216T>C (p.Leu72=) single nucleotide variant Leber congenital amaurosis 9 [RCV001398708] Chr1:9975692 [GRCh38]
Chr1:10035750 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.466G>A (p.Gly156Arg) single nucleotide variant not provided [RCV001816042] Chr1:9982327 [GRCh38]
Chr1:10042385 [GRCh37]
Chr1:1p36.22
likely pathogenic
NM_022787.4(NMNAT1):c.480G>C (p.Leu160Phe) single nucleotide variant Leber congenital amaurosis 9 [RCV002025549] Chr1:9982341 [GRCh38]
Chr1:10042399 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.554G>A (p.Cys185Tyr) single nucleotide variant Leber congenital amaurosis 9 [RCV001929791] Chr1:9982415 [GRCh38]
Chr1:10042473 [GRCh37]
Chr1:1p36.22
uncertain significance
NC_000001.10:g.(?_10035630)_(10041248_?)del deletion Leber congenital amaurosis 9 [RCV001929292] Chr1:10035630..10041248 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.620G>A (p.Arg207Gln) single nucleotide variant Leber congenital amaurosis 9 [RCV001914564] Chr1:9982481 [GRCh38]
Chr1:10042539 [GRCh37]
Chr1:1p36.22
uncertain significance
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1 copy number loss not provided [RCV001832902] Chr1:849466..17525065 [GRCh37]
Chr1:1p36.33-36.13
pathogenic
NM_022787.4(NMNAT1):c.553T>C (p.Cys185Arg) single nucleotide variant Leber congenital amaurosis 9 [RCV001913630] Chr1:9982414 [GRCh38]
Chr1:10042472 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.115+1G>A single nucleotide variant Leber congenital amaurosis 9 [RCV002003843] Chr1:9972189 [GRCh38]
Chr1:10032247 [GRCh37]
Chr1:1p36.22
likely pathogenic
NM_022787.4(NMNAT1):c.94A>G (p.Lys32Glu) single nucleotide variant Leber congenital amaurosis 9 [RCV001910943] Chr1:9972167 [GRCh38]
Chr1:10032225 [GRCh37]
Chr1:1p36.22
uncertain significance
NC_000001.10:g.(?_10041069)_(10041248_?)del deletion Leber congenital amaurosis 9 [RCV002007343] Chr1:10041069..10041248 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.469del (p.Ala157fs) deletion Leber congenital amaurosis 9 [RCV001965023] Chr1:9982327 [GRCh38]
Chr1:10042385 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.524C>T (p.Thr175Ile) single nucleotide variant Leber congenital amaurosis 9 [RCV001965480] Chr1:9982385 [GRCh38]
Chr1:10042443 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.578C>T (p.Ala193Val) single nucleotide variant Leber congenital amaurosis 9 [RCV001872827] Chr1:9982439 [GRCh38]
Chr1:10042497 [GRCh37]
Chr1:1p36.22
uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804) copy number loss Chromosome 1p36 deletion syndrome, proximal [RCV002280717] Chr1:849466..10258804 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
NM_022787.4(NMNAT1):c.491C>T (p.Ala164Val) single nucleotide variant Leber congenital amaurosis 9 [RCV001985096] Chr1:9982352 [GRCh38]
Chr1:10042410 [GRCh37]
Chr1:1p36.22
uncertain significance
NC_000001.10:g.(?_6485016)_(12569078_?)del deletion not provided [RCV001940096] Chr1:6485016..12569078 [GRCh37]
Chr1:1p36.31-36.22
uncertain significance
NC_000001.10:g.(?_10032132)_(10041248_?)dup duplication Leber congenital amaurosis 9 [RCV001943177] Chr1:10032132..10041248 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.38C>A (p.Ala13Asp) single nucleotide variant Leber congenital amaurosis 9 [RCV001888185] Chr1:9972111 [GRCh38]
Chr1:10032169 [GRCh37]
Chr1:1p36.22
likely pathogenic|uncertain significance
NM_022787.4(NMNAT1):c.116-2A>G single nucleotide variant Leber congenital amaurosis 9 [RCV001972231] Chr1:9975590 [GRCh38]
Chr1:10035648 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.410A>T (p.Gln137Leu) single nucleotide variant Leber congenital amaurosis 9 [RCV001887583] Chr1:9981141 [GRCh38]
Chr1:10041199 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.213A>C (p.Glu71Asp) single nucleotide variant Leber congenital amaurosis 9 [RCV001883106] Chr1:9975689 [GRCh38]
Chr1:10035747 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.550A>G (p.Ile184Val) single nucleotide variant Leber congenital amaurosis 9 [RCV001933093] Chr1:9982411 [GRCh38]
Chr1:10042469 [GRCh37]
Chr1:1p36.22
uncertain significance
NC_000001.10:g.(?_10003560)_(11346188_?)del deletion Peroxisome biogenesis disorder, complementation group K [RCV001994817] Chr1:10003560..11346188 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.563G>A (p.Arg188Gln) single nucleotide variant Leber congenital amaurosis 9 [RCV002029244] Chr1:9982424 [GRCh38]
Chr1:10042482 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.18G>T (p.Lys6Asn) single nucleotide variant Inborn genetic diseases [RCV003289251]|Leber congenital amaurosis 9 [RCV001939010] Chr1:9972091 [GRCh38]
Chr1:10032149 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.393_394del (p.Glu131fs) deletion Leber congenital amaurosis 9 [RCV001919087] Chr1:9981123..9981124 [GRCh38]
Chr1:10041181..10041182 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.676del (p.Ile226fs) deletion Leber congenital amaurosis 9 [RCV001921450] Chr1:9982533 [GRCh38]
Chr1:10042591 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.503T>G (p.Leu168Trp) single nucleotide variant Leber congenital amaurosis 9 [RCV001960908] Chr1:9982364 [GRCh38]
Chr1:10042422 [GRCh37]
Chr1:1p36.22
uncertain significance
NC_000001.10:g.(?_8616514)_(12476900_?)dup duplication Immunodeficiency 14 [RCV001920571] Chr1:8616514..12476900 [GRCh37]
Chr1:1p36.23-36.22
uncertain significance
NM_022787.4(NMNAT1):c.391G>A (p.Glu131Lys) single nucleotide variant Leber congenital amaurosis 9 [RCV001917943] Chr1:9981122 [GRCh38]
Chr1:10041180 [GRCh37]
Chr1:1p36.22
uncertain significance
NC_000001.10:g.(?_10003560)_(10042759_?)dup duplication Leber congenital amaurosis 9 [RCV001980157] Chr1:10003560..10042759 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.829G>A (p.Ala277Thr) single nucleotide variant Leber congenital amaurosis 9 [RCV001904851] Chr1:9982690 [GRCh38]
Chr1:10042748 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.255G>A (p.Trp85Ter) single nucleotide variant Leber congenital amaurosis 9 [RCV001958992] Chr1:9975731 [GRCh38]
Chr1:10035789 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.397C>A (p.Gln133Lys) single nucleotide variant Leber congenital amaurosis 9 [RCV001989788] Chr1:9981128 [GRCh38]
Chr1:10041186 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.520A>G (p.Ile174Val) single nucleotide variant Leber congenital amaurosis 9 [RCV001982122] Chr1:9982381 [GRCh38]
Chr1:10042439 [GRCh37]
Chr1:1p36.22
uncertain significance
NC_000001.10:g.(?_10003560)_(10035853_?)dup duplication Leber congenital amaurosis 9 [RCV001976831] Chr1:10003560..10035853 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.154G>C (p.Gly52Arg) single nucleotide variant Leber congenital amaurosis 9 [RCV001957037] Chr1:9975630 [GRCh38]
Chr1:10035688 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.435A>G (p.Thr145=) single nucleotide variant Leber congenital amaurosis 9 [RCV002088653] Chr1:9981166 [GRCh38]
Chr1:10041224 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.299+12G>T single nucleotide variant Leber congenital amaurosis 9 [RCV002087528] Chr1:9975787 [GRCh38]
Chr1:10035845 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.299+13T>G single nucleotide variant Leber congenital amaurosis 9 [RCV002169782] Chr1:9975788 [GRCh38]
Chr1:10035846 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.462G>A (p.Leu154=) single nucleotide variant Leber congenital amaurosis 9 [RCV002114232] Chr1:9982323 [GRCh38]
Chr1:10042381 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.654T>C (p.Ala218=) single nucleotide variant Leber congenital amaurosis 9 [RCV002172239] Chr1:9982515 [GRCh38]
Chr1:10042573 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.108T>C (p.Asn36=) single nucleotide variant Leber congenital amaurosis 9 [RCV002206982] Chr1:9972181 [GRCh38]
Chr1:10032239 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.603T>C (p.Asp201=) single nucleotide variant Leber congenital amaurosis 9 [RCV002131164] Chr1:9982464 [GRCh38]
Chr1:10042522 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.300-10T>G single nucleotide variant Leber congenital amaurosis 9 [RCV002076783] Chr1:9981021 [GRCh38]
Chr1:10041079 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.300-4A>G single nucleotide variant Leber congenital amaurosis 9 [RCV002218355] Chr1:9981027 [GRCh38]
Chr1:10041085 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.299+19_299+21dup duplication Leber congenital amaurosis 9 [RCV002216881] Chr1:9975793..9975794 [GRCh38]
Chr1:10035851..10035852 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.439+7A>G single nucleotide variant Leber congenital amaurosis 9 [RCV002099769] Chr1:9981177 [GRCh38]
Chr1:10041235 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.88C>T (p.Leu30=) single nucleotide variant Leber congenital amaurosis 9 [RCV002161185] Chr1:9972161 [GRCh38]
Chr1:10032219 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.633C>T (p.His211=) single nucleotide variant Leber congenital amaurosis 9 [RCV002201778] Chr1:9982494 [GRCh38]
Chr1:10042552 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.624C>T (p.Ser208=) single nucleotide variant Leber congenital amaurosis 9 [RCV002081586] Chr1:9982485 [GRCh38]
Chr1:10042543 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.116-11T>C single nucleotide variant Leber congenital amaurosis 9 [RCV002140361] Chr1:9975581 [GRCh38]
Chr1:10035639 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.115+15C>T single nucleotide variant Leber congenital amaurosis 9 [RCV002177161] Chr1:9972203 [GRCh38]
Chr1:10032261 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.75C>A (p.Leu25=) single nucleotide variant Leber congenital amaurosis 9 [RCV002219941] Chr1:9972148 [GRCh38]
Chr1:10032206 [GRCh37]
Chr1:1p36.22
likely benign
NC_000001.10:g.(?_9770514)_(11264780_?)del deletion Immunodeficiency 14 [RCV003116291] Chr1:9770514..11264780 [GRCh37]
Chr1:1p36.22
uncertain significance
NC_000001.10:g.(?_10032132)_(10032266_?)del deletion Leber congenital amaurosis 9 [RCV003111510] Chr1:10032132..10032266 [GRCh37]
Chr1:1p36.22
pathogenic
NC_000001.10:g.(?_10032132)_(10035853_?)del deletion Leber congenital amaurosis 9 [RCV003111511] Chr1:10032132..10035853 [GRCh37]
Chr1:1p36.22
pathogenic
NC_000001.10:g.(?_10027411)_(10045246_?)del deletion Leber congenital amaurosis 9 [RCV003111512] Chr1:10027411..10045246 [GRCh37]
Chr1:1p36.22
pathogenic
NC_000001.10:g.(?_10041069)_(10042759_?)del deletion Leber congenital amaurosis 9 [RCV003111513] Chr1:10041069..10042759 [GRCh37]
Chr1:1p36.22
pathogenic
NC_000001.10:g.(?_9304994)_(12569078_?)dup duplication Charcot-Marie-Tooth disease type 2 [RCV003119499] Chr1:9304994..12569078 [GRCh37]
Chr1:1p36.22
uncertain significance
NC_000001.10:g.4481271_20530242del deletion Chromosome 1p36 deletion syndrome [RCV003159574] Chr1:4481271..20530242 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1 copy number loss not provided [RCV002473951] Chr1:849467..12448956 [GRCh37]
Chr1:1p36.33-36.22
pathogenic
GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1 copy number loss not provided [RCV002474779] Chr1:6758933..19287770 [GRCh37]
Chr1:1p36.31-36.13
pathogenic
NM_022787.4(NMNAT1):c.793dup (p.Val265fs) duplication Leber congenital amaurosis 9 [RCV002616789] Chr1:9982650..9982651 [GRCh38]
Chr1:10042708..10042709 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.827A>T (p.Glu276Val) single nucleotide variant Leber congenital amaurosis 9 [RCV002842229] Chr1:9982688 [GRCh38]
Chr1:10042746 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.691A>C (p.Arg231=) single nucleotide variant Leber congenital amaurosis 9 [RCV002843043] Chr1:9982552 [GRCh38]
Chr1:10042610 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.768T>C (p.Ser256=) single nucleotide variant Leber congenital amaurosis 9 [RCV002978973] Chr1:9982629 [GRCh38]
Chr1:10042687 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.115+16A>G single nucleotide variant Leber congenital amaurosis 9 [RCV003078594] Chr1:9972204 [GRCh38]
Chr1:10032262 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.383A>G (p.Lys128Arg) single nucleotide variant Leber congenital amaurosis 9 [RCV002621955] Chr1:9981114 [GRCh38]
Chr1:10041172 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.59T>C (p.Ile20Thr) single nucleotide variant Leber congenital amaurosis 9 [RCV003038879] Chr1:9972132 [GRCh38]
Chr1:10032190 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.115+14C>T single nucleotide variant Leber congenital amaurosis 9 [RCV002658778] Chr1:9972202 [GRCh38]
Chr1:10032260 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.165C>G (p.Tyr55Ter) single nucleotide variant Leber congenital amaurosis 9 [RCV003007154] Chr1:9975641 [GRCh38]
Chr1:10035699 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.543T>C (p.Tyr181=) single nucleotide variant Leber congenital amaurosis 9 [RCV002575923] Chr1:9982404 [GRCh38]
Chr1:10042462 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.91G>T (p.Ala31Ser) single nucleotide variant Leber congenital amaurosis 9 [RCV002791603] Chr1:9972164 [GRCh38]
Chr1:10032222 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.606G>A (p.Val202=) single nucleotide variant Leber congenital amaurosis 9 [RCV002701003] Chr1:9982467 [GRCh38]
Chr1:10042525 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.253T>C (p.Trp85Arg) single nucleotide variant Leber congenital amaurosis 9 [RCV003526221]|not provided [RCV002508714] Chr1:9975729 [GRCh38]
Chr1:10035787 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.628A>G (p.Ile210Val) single nucleotide variant Inborn genetic diseases [RCV002804630] Chr1:9982489 [GRCh38]
Chr1:10042547 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.115+1G>C single nucleotide variant Leber congenital amaurosis 9 [RCV002625004] Chr1:9972189 [GRCh38]
Chr1:10032247 [GRCh37]
Chr1:1p36.22
likely pathogenic
NM_022787.4(NMNAT1):c.191A>G (p.Tyr64Cys) single nucleotide variant Leber congenital amaurosis 9 [RCV003088066] Chr1:9975667 [GRCh38]
Chr1:10035725 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.38C>G (p.Ala13Gly) single nucleotide variant Leber congenital amaurosis 9 [RCV003064927] Chr1:9972111 [GRCh38]
Chr1:10032169 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.167A>G (p.Lys56Arg) single nucleotide variant Leber congenital amaurosis 9 [RCV003027014] Chr1:9975643 [GRCh38]
Chr1:10035701 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.59T>A (p.Ile20Asn) single nucleotide variant Leber congenital amaurosis 9 [RCV002648122] Chr1:9972132 [GRCh38]
Chr1:10032190 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.57C>T (p.Pro19=) single nucleotide variant Leber congenital amaurosis 9 [RCV002647928] Chr1:9972130 [GRCh38]
Chr1:10032188 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.128T>A (p.Val43Asp) single nucleotide variant Leber congenital amaurosis 9 [RCV003027242] Chr1:9975604 [GRCh38]
Chr1:10035662 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.455A>G (p.Lys152Arg) single nucleotide variant Leber congenital amaurosis 9 [RCV002631516] Chr1:9982316 [GRCh38]
Chr1:10042374 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.648G>A (p.Trp216Ter) single nucleotide variant Leber congenital amaurosis 9 [RCV003048100] Chr1:9982509 [GRCh38]
Chr1:10042567 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.-57+2T>C single nucleotide variant not provided [RCV003222601] Chr1:9943517 [GRCh38]
Chr1:10003575 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.193C>T (p.His65Tyr) single nucleotide variant not provided [RCV003222602] Chr1:9975669 [GRCh38]
Chr1:10035727 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.641A>T (p.Asn214Ile) single nucleotide variant Inborn genetic diseases [RCV003359771] Chr1:9982502 [GRCh38]
Chr1:10042560 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.724G>T (p.Asp242Tyr) single nucleotide variant Leber congenital amaurosis 9 [RCV003873703] Chr1:9982585 [GRCh38]
Chr1:10042643 [GRCh37]
Chr1:1p36.22
uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1
pathogenic
NM_022787.4(NMNAT1):c.51C>A (p.Phe17Leu) single nucleotide variant not provided [RCV003488151] Chr1:9972124 [GRCh38]
Chr1:10032182 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.120G>T (p.Arg40Ser) single nucleotide variant Leber congenital amaurosis 9 [RCV003525659] Chr1:9975596 [GRCh38]
Chr1:10035654 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.453C>G (p.Val151=) single nucleotide variant Leber congenital amaurosis 9 [RCV003527107] Chr1:9982314 [GRCh38]
Chr1:10042372 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.721C>T (p.Pro241Ser) single nucleotide variant Leber congenital amaurosis 9 [RCV003527180] Chr1:9982582 [GRCh38]
Chr1:10042640 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.439+12T>C single nucleotide variant Leber congenital amaurosis 9 [RCV003816859] Chr1:9981182 [GRCh38]
Chr1:10041240 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.792G>A (p.Gly264=) single nucleotide variant Leber congenital amaurosis 9 [RCV003840300] Chr1:9982653 [GRCh38]
Chr1:10042711 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.254G>A (p.Trp85Ter) single nucleotide variant Leber congenital amaurosis 9 [RCV003639347] Chr1:9975730 [GRCh38]
Chr1:10035788 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.282_283del (p.Glu94fs) microsatellite Leber congenital amaurosis 9 [RCV003640316] Chr1:9975755..9975756 [GRCh38]
Chr1:10035813..10035814 [GRCh37]
Chr1:1p36.22
pathogenic
NM_022787.4(NMNAT1):c.468G>A (p.Gly156=) single nucleotide variant Leber congenital amaurosis 9 [RCV003640206] Chr1:9982329 [GRCh38]
Chr1:10042387 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.832A>G (p.Lys278Glu) single nucleotide variant Leber congenital amaurosis 9 [RCV003640315] Chr1:9982693 [GRCh38]
Chr1:10042751 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.654T>G (p.Ala218=) single nucleotide variant Leber congenital amaurosis 9 [RCV003638547] Chr1:9982515 [GRCh38]
Chr1:10042573 [GRCh37]
Chr1:1p36.22
likely benign
GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1 copy number loss not specified [RCV003987128] Chr1:6330828..12910774 [GRCh37]
Chr1:1p36.31-36.21
pathogenic
NM_022787.4(NMNAT1):c.300-12G>C single nucleotide variant Leber congenital amaurosis 9 [RCV003639581] Chr1:9981019 [GRCh38]
Chr1:10041077 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.299+19A>G single nucleotide variant Leber congenital amaurosis 9 [RCV003639709] Chr1:9975794 [GRCh38]
Chr1:10035852 [GRCh37]
Chr1:1p36.22
likely benign
NM_022787.4(NMNAT1):c.532G>C (p.Val178Leu) single nucleotide variant Inborn genetic diseases [RCV004495709] Chr1:9982393 [GRCh38]
Chr1:10042451 [GRCh37]
Chr1:1p36.22
uncertain significance
NM_022787.4(NMNAT1):c.439+101A>G single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004557841] Chr1:9981271 [GRCh38]
Chr1:10041329 [GRCh37]
Chr1:1p36.22
likely benign
GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2 copy number loss not provided [RCV004577440] Chr1:4436802..22782007 [GRCh37]
Chr1:1p36.32-36.12
pathogenic
NC_000001.10:g.(?_5923325)_(12071622_?)del deletion not provided [RCV004579132] Chr1:5923325..12071622 [GRCh37]
Chr1:1p36.31-36.22
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2051
Count of miRNA genes:867
Interacting mature miRNAs:1019
Transcripts:ENST00000377205, ENST00000403197, ENST00000462686, ENST00000492735, ENST00000496751
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298451OSTEAR17_HOsteoarthritis QTL 17 (human)2.40.0004Joint/bone inflammationosteoarthritis11125188105Human
1576329MYI9_HMyocardial infarction susceptibility QTL 9 (human)12Myocardial infarction susceptibilityearly-onset1758550333585503Human
407233149GWAS882125_Hbone density QTL GWAS882125 (human)9e-17bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)199783519978352Human
1298463BP9_HBlood pressure QTL 9 (human)3.9Blood pressurehypertension susceptibility1125188105Human
1576325MYI1_HMyocardial infarction susceptibility QTL 1 (human)11.681e-12Myocardial infarction susceptibilityearly-onset1758550333585503Human
1643380BW316_HBody weight QTL 316 (human)2.620.0002Body weightBMI1758550333585503Human

Markers in Region
D1S1597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37113,784,187 - 13,784,356UniSTSGRCh37
Build 36113,656,774 - 13,656,943RGDNCBI36
Celera112,266,316 - 12,266,485RGD
Cytogenetic Map1p36UniSTS
HuRef112,301,002 - 12,301,175UniSTS
Marshfield Genetic Map129.93UniSTS
Marshfield Genetic Map129.93RGD
TNG Radiation Hybrid Map15552.0UniSTS
deCODE Assembly Map123.27UniSTS
Stanford-G3 RH Map1765.0UniSTS
D1S2667  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37111,487,038 - 11,487,307UniSTSGRCh37
Build 36111,409,625 - 11,409,894RGDNCBI36
Celera110,599,625 - 10,599,894RGD
Cytogenetic Map1p36UniSTS
HuRef110,640,367 - 10,640,634UniSTS
Marshfield Genetic Map124.68UniSTS
Marshfield Genetic Map124.68RGD
Genethon Genetic Map126.9UniSTS
TNG Radiation Hybrid Map16732.0UniSTS
deCODE Assembly Map119.88UniSTS
Stanford-G3 RH Map1580.0UniSTS
GeneMap99-GB4 RH Map147.75UniSTS
NCBI RH Map161.9UniSTS
GeneMap99-G3 RH Map1580.0UniSTS
D1S3281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37110,026,818 - 10,026,923UniSTSGRCh37
GRCh37110,026,818 - 10,026,949UniSTSGRCh37
Build 3619,949,405 - 9,949,536RGDNCBI36
Celera19,137,852 - 9,137,983RGD
Celera19,137,852 - 9,137,957UniSTS
Cytogenetic Map1p36.22UniSTS
HuRef19,182,015 - 9,182,146UniSTS
HuRef19,182,015 - 9,182,120UniSTS
TNG Radiation Hybrid Map14810.0UniSTS
Stanford-G3 RH Map1480.0UniSTS
GeneMap99-GB4 RH Map133.57UniSTS
NCBI RH Map138.1UniSTS
GeneMap99-G3 RH Map1480.0UniSTS
G34803  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37110,026,801 - 10,026,932UniSTSGRCh37
Build 3619,949,388 - 9,949,519RGDNCBI36
Celera19,137,835 - 9,137,966RGD
Cytogenetic Map1p36.22UniSTS
HuRef19,181,998 - 9,182,129UniSTS
SHGC-57613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37843,000,184 - 43,000,272UniSTSGRCh37
GRCh37110,045,152 - 10,045,240UniSTSGRCh37
Build 3619,967,739 - 9,967,827RGDNCBI36
Celera19,156,194 - 9,156,282RGD
Cytogenetic Map8p11.1UniSTS
Cytogenetic Map1p36.22UniSTS
HuRef841,522,973 - 41,523,061UniSTS
HuRef19,200,133 - 9,200,221UniSTS
TNG Radiation Hybrid Map823448.0UniSTS
D5S2354  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map12q24.11UniSTS
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS
GDB:631802  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map3q21-q22UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map2q21UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map20p11.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map2p24.1UniSTS
L17971  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic MapXq22UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map20p11.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map9q34.13UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
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Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
NMNAT1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37110,042,380 - 10,042,495UniSTSGRCh37
Celera19,153,422 - 9,153,537UniSTS
HuRef19,197,361 - 9,197,476UniSTS
D1S3281  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.22UniSTS
Stanford-G3 RH Map1480.0UniSTS
GeneMap99-GB4 RH Map133.57UniSTS
NCBI RH Map138.1UniSTS
GeneMap99-G3 RH Map1480.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001297778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001297779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_022787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011541971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338310 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054338314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF088049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF312734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF314163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF459819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH011467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI247931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL603962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG751629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP309588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP339298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU948893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS300603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS463828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JB275311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LC822758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000377205   ⟹   ENSP00000366410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19,943,475 - 9,985,498 (+)Ensembl
Ensembl Acc Id: ENST00000403197   ⟹   ENSP00000385131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19,943,428 - 9,981,766 (+)Ensembl
Ensembl Acc Id: ENST00000462686   ⟹   ENSP00000435134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19,943,429 - 9,983,669 (+)Ensembl
Ensembl Acc Id: ENST00000492735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19,943,488 - 9,972,503 (+)Ensembl
Ensembl Acc Id: ENST00000496751   ⟹   ENSP00000467340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19,981,052 - 9,985,501 (+)Ensembl
RefSeq Acc Id: NM_001297778   ⟹   NP_001284707
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,942,923 - 9,985,498 (+)NCBI
CHM1_119,991,798 - 10,034,914 (+)NCBI
T2T-CHM13v2.019,485,828 - 9,528,561 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001297779   ⟹   NP_001284708
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,943,475 - 9,981,766 (+)NCBI
CHM1_119,992,303 - 10,031,182 (+)NCBI
T2T-CHM13v2.019,486,380 - 9,524,829 (+)NCBI
Sequence:
RefSeq Acc Id: NM_022787   ⟹   NP_073624
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,943,475 - 9,985,498 (+)NCBI
GRCh37110,003,486 - 10,045,556 (+)ENTREZGENE
GRCh37110,003,486 - 10,045,556 (+)NCBI
Build 3619,926,073 - 9,968,143 (+)NCBI Archive
HuRef19,158,939 - 9,200,537 (+)ENTREZGENE
CHM1_119,992,303 - 10,034,914 (+)NCBI
T2T-CHM13v2.019,486,380 - 9,528,561 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011541971   ⟹   XP_011540273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,943,475 - 9,985,498 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002107   ⟹   XP_016857596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,943,475 - 9,985,498 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017002108   ⟹   XP_016857597
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,943,475 - 9,996,892 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047428076   ⟹   XP_047284032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,946,013 - 9,985,498 (+)NCBI
RefSeq Acc Id: XM_047428077   ⟹   XP_047284033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,942,923 - 9,981,766 (+)NCBI
RefSeq Acc Id: XM_047428080   ⟹   XP_047284036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,946,013 - 9,981,766 (+)NCBI
RefSeq Acc Id: XM_047428082   ⟹   XP_047284038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,943,475 - 9,981,766 (+)NCBI
RefSeq Acc Id: XM_054338308   ⟹   XP_054194283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019,488,916 - 9,528,561 (+)NCBI
RefSeq Acc Id: XM_054338309   ⟹   XP_054194284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019,486,398 - 9,528,561 (+)NCBI
RefSeq Acc Id: XM_054338310   ⟹   XP_054194285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019,485,828 - 9,524,829 (+)NCBI
RefSeq Acc Id: XM_054338311   ⟹   XP_054194286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019,488,916 - 9,524,829 (+)NCBI
RefSeq Acc Id: XM_054338312   ⟹   XP_054194287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019,486,398 - 9,524,829 (+)NCBI
RefSeq Acc Id: XM_054338313   ⟹   XP_054194288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019,486,380 - 9,539,839 (+)NCBI
RefSeq Acc Id: XM_054338314   ⟹   XP_054194289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019,486,380 - 9,528,561 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001284707 (Get FASTA)   NCBI Sequence Viewer  
  NP_001284708 (Get FASTA)   NCBI Sequence Viewer  
  NP_073624 (Get FASTA)   NCBI Sequence Viewer  
  XP_011540273 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857596 (Get FASTA)   NCBI Sequence Viewer  
  XP_016857597 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284032 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284033 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284036 (Get FASTA)   NCBI Sequence Viewer  
  XP_047284038 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194283 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194284 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194285 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194286 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194287 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194288 (Get FASTA)   NCBI Sequence Viewer  
  XP_054194289 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG33629 (Get FASTA)   NCBI Sequence Viewer  
  AAG33632 (Get FASTA)   NCBI Sequence Viewer  
  AAH14943 (Get FASTA)   NCBI Sequence Viewer  
  AAL76934 (Get FASTA)   NCBI Sequence Viewer  
  AAL76935 (Get FASTA)   NCBI Sequence Viewer  
  BAB15345 (Get FASTA)   NCBI Sequence Viewer  
  BAD96640 (Get FASTA)   NCBI Sequence Viewer  
  BAG38007 (Get FASTA)   NCBI Sequence Viewer  
  CAK32267 (Get FASTA)   NCBI Sequence Viewer  
  CAM12697 (Get FASTA)   NCBI Sequence Viewer  
  CDH92521 (Get FASTA)   NCBI Sequence Viewer  
  EAW71635 (Get FASTA)   NCBI Sequence Viewer  
  EAW71636 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000366410
  ENSP00000366410.1
  ENSP00000385131
  ENSP00000385131.1
  ENSP00000435134.1
  ENSP00000467340.1
GenBank Protein Q9HAN9 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_073624   ⟸   NM_022787
- Peptide Label: isoform 1
- UniProtKB: Q9H247 (UniProtKB/Swiss-Prot),   Q8TAE9 (UniProtKB/Swiss-Prot),   B1AN63 (UniProtKB/Swiss-Prot),   Q9H6B6 (UniProtKB/Swiss-Prot),   Q9HAN9 (UniProtKB/Swiss-Prot),   Q53GL1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001284707   ⟸   NM_001297778
- Peptide Label: isoform 1
- UniProtKB: Q9H247 (UniProtKB/Swiss-Prot),   Q8TAE9 (UniProtKB/Swiss-Prot),   B1AN63 (UniProtKB/Swiss-Prot),   Q9H6B6 (UniProtKB/Swiss-Prot),   Q9HAN9 (UniProtKB/Swiss-Prot),   Q53GL1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001284708   ⟸   NM_001297779
- Peptide Label: isoform 2
- UniProtKB: B1AN62 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011540273   ⟸   XM_011541971
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016857597   ⟸   XM_017002108
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016857596   ⟸   XM_017002107
- Peptide Label: isoform X1
- UniProtKB: Q9H247 (UniProtKB/Swiss-Prot),   Q8TAE9 (UniProtKB/Swiss-Prot),   B1AN63 (UniProtKB/Swiss-Prot),   Q9H6B6 (UniProtKB/Swiss-Prot),   Q9HAN9 (UniProtKB/Swiss-Prot),   Q53GL1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000435134   ⟸   ENST00000462686
Ensembl Acc Id: ENSP00000366410   ⟸   ENST00000377205
Ensembl Acc Id: ENSP00000385131   ⟸   ENST00000403197
Ensembl Acc Id: ENSP00000467340   ⟸   ENST00000496751
RefSeq Acc Id: XP_047284033   ⟸   XM_047428077
- Peptide Label: isoform X2
- UniProtKB: B1AN62 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047284038   ⟸   XM_047428082
- Peptide Label: isoform X2
- UniProtKB: B1AN62 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047284032   ⟸   XM_047428076
- Peptide Label: isoform X1
- UniProtKB: Q9HAN9 (UniProtKB/Swiss-Prot),   Q9H247 (UniProtKB/Swiss-Prot),   Q8TAE9 (UniProtKB/Swiss-Prot),   B1AN63 (UniProtKB/Swiss-Prot),   Q9H6B6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284036   ⟸   XM_047428080
- Peptide Label: isoform X2
- UniProtKB: B1AN62 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054194285   ⟸   XM_054338310
- Peptide Label: isoform X2
- UniProtKB: B1AN62 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054194288   ⟸   XM_054338313
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054194289   ⟸   XM_054338314
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054194284   ⟸   XM_054338309
- Peptide Label: isoform X1
- UniProtKB: Q9H6B6 (UniProtKB/Swiss-Prot),   Q9HAN9 (UniProtKB/Swiss-Prot),   Q9H247 (UniProtKB/Swiss-Prot),   Q8TAE9 (UniProtKB/Swiss-Prot),   B1AN63 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054194287   ⟸   XM_054338312
- Peptide Label: isoform X2
- UniProtKB: B1AN62 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054194283   ⟸   XM_054338308
- Peptide Label: isoform X1
- UniProtKB: Q9H6B6 (UniProtKB/Swiss-Prot),   Q9HAN9 (UniProtKB/Swiss-Prot),   Q9H247 (UniProtKB/Swiss-Prot),   Q8TAE9 (UniProtKB/Swiss-Prot),   B1AN63 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054194286   ⟸   XM_054338311
- Peptide Label: isoform X2
- UniProtKB: B1AN62 (UniProtKB/TrEMBL)
Protein Domains
Cytidyltransferase-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HAN9-F1-model_v2 AlphaFold Q9HAN9 1-279 view protein structure

Promoters
RGD ID:6786620
Promoter ID:HG_KWN:586
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000403197,   NM_022787,   OTTHUMT00000005032,   OTTHUMT00000005042,   OTTHUMT00000092155
Position:
Human AssemblyChrPosition (strand)Source
Build 3619,925,191 - 9,926,122 (+)MPROMDB
RGD ID:6854024
Promoter ID:EPDNEW_H177
Type:initiation region
Name:NMNAT1_1
Description:nicotinamide nucleotide adenylyltransferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819,943,475 - 9,943,535EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17877 AgrOrtholog
COSMIC NMNAT1 COSMIC
Ensembl Genes ENSG00000173614 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000377205 ENTREZGENE
  ENST00000377205.6 UniProtKB/Swiss-Prot
  ENST00000403197 ENTREZGENE
  ENST00000403197.5 UniProtKB/TrEMBL
  ENST00000462686.1 UniProtKB/Swiss-Prot
  ENST00000496751.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.620 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000173614 GTEx
HGNC ID HGNC:17877 ENTREZGENE
Human Proteome Map NMNAT1 Human Proteome Map
InterPro Cyt_trans-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Euk_NMN_adenylyltrnsfrase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NadD/NMNAT UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  NMNAT_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rossmann-like_a/b/a_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:64802 UniProtKB/Swiss-Prot
NCBI Gene 64802 ENTREZGENE
OMIM 608700 OMIM
PANTHER NICOTINAMIDE MONONUCLEOTIDE ADENYLYLTRANSFERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NICOTINAMIDE_NICOTINIC ACID MONONUCLEOTIDE ADENYLYLTRANSFERASE 1 UniProtKB/Swiss-Prot
  NICOTINAMIDE_NICOTINIC ACID MONONUCLEOTIDE ADENYLYLTRANSFERASE 1 UniProtKB/TrEMBL
  NICOTINAMIDE_NICOTINIC ACID MONONUCLEOTIDE ADENYLYLTRANSFERASE 1 UniProtKB/TrEMBL
Pfam CTP_transf_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA31660 PharmGKB
Superfamily-SCOP Nucleotidylyl transferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B1AN62 ENTREZGENE, UniProtKB/TrEMBL
  B1AN63 ENTREZGENE
  K7EPD7_HUMAN UniProtKB/TrEMBL
  NMNA1_HUMAN UniProtKB/Swiss-Prot
  Q53GL1 ENTREZGENE, UniProtKB/TrEMBL
  Q8TAE9 ENTREZGENE
  Q9H247 ENTREZGENE
  Q9H6B6 ENTREZGENE
  Q9HAN9 ENTREZGENE
UniProt Secondary B1AN63 UniProtKB/Swiss-Prot
  Q8TAE9 UniProtKB/Swiss-Prot
  Q9H247 UniProtKB/Swiss-Prot
  Q9H6B6 UniProtKB/Swiss-Prot