CRAT (carnitine O-acetyltransferase) - Rat Genome Database

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Gene: CRAT (carnitine O-acetyltransferase) Homo sapiens
Analyze
Symbol: CRAT
Name: carnitine O-acetyltransferase
RGD ID: 1350289
HGNC Page HGNC:2342
Description: Enables acyl-CoA oxidase activity and carnitine O-acetyltransferase activity. Involved in carnitine metabolic process, CoA-linked and fatty acid metabolic process. Located in mitochondrion and peroxisome. Implicated in neurodegeneration with brain iron accumulation.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: carnitine acetylase; carnitine acetyltransferase; CAT; CAT1; NBIA8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389129,094,794 - 129,110,793 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9129,094,142 - 129,111,189 (-)EnsemblGRCh38hg38GRCh38
GRCh379131,857,073 - 131,873,072 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369130,896,894 - 130,912,904 (-)NCBINCBI36Build 36hg18NCBI36
Build 349128,936,628 - 128,952,637NCBI
Celera9102,509,370 - 102,525,353 (-)NCBICelera
Cytogenetic Map9q34.11NCBI
HuRef9101,464,043 - 101,480,035 (-)NCBIHuRef
CHM1_19132,007,896 - 132,023,887 (-)NCBICHM1_1
T2T-CHM13v2.09141,298,255 - 141,314,668 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(+)-schisandrin B  (ISO)
1,2-dichloroethane  (ISO)
1,4-benzoquinone  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-D  (ISO)
2,6-dinitrotoluene  (ISO)
2-(4-chloro-2-methylphenoxy)propanoic acid  (ISO)
2-butoxyethanol  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetyl-CoA  (ISO)
aflatoxin B1  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bezafibrate  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bromobenzene  (ISO)
Butoxyacetic acid  (ISO)
C60 fullerene  (ISO)
cadmium atom  (ISO)
carbon nanotube  (ISO)
carmustine  (EXP)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
ciprofibrate  (ISO)
Clinofibrate  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
decabromodiphenyl ether  (ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dichloroacetic acid  (ISO)
doxorubicin  (ISO)
elemental selenium  (EXP)
epoxiconazole  (ISO)
Ethoxyacetic acid  (ISO)
fenofibrate  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
gemfibrozil  (ISO)
glafenine  (ISO)
glycidyl methacrylate  (EXP)
indole-3-methanol  (ISO)
indometacin  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
lamivudine  (ISO)
leflunomide  (ISO)
mecoprop  (ISO)
mercury dichloride  (ISO)
methimazole  (ISO)
methoxyacetic acid  (ISO)
monosodium L-glutamate  (ISO)
Muraglitazar  (ISO)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nicardipine  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
orphenadrine  (ISO)
ozone  (ISO)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (ISO)
phenformin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
pravastatin  (ISO)
rotenone  (ISO)
selenium atom  (EXP)
sodium fluoride  (ISO)
sulforaphane  (ISO)
tert-butyl hydroperoxide  (EXP)
Tesaglitazar  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thapsigargin  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
Tridiphane  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
tunicamycin  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
zaragozic acid A  (ISO)
zidovudine  (ISO)
zoledronic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1456745   PMID:2351134   PMID:7829107   PMID:7945262   PMID:8489235   PMID:8889548   PMID:11001805   PMID:12077440   PMID:12477932   PMID:12526798   PMID:12562770   PMID:12877997  
PMID:15099582   PMID:15489334   PMID:15591000   PMID:16756494   PMID:17567994   PMID:18839069   PMID:19553674   PMID:19716391   PMID:19913121   PMID:20178365   PMID:20628086   PMID:20677014  
PMID:20833797   PMID:20877624   PMID:21873635   PMID:22002062   PMID:22560225   PMID:23485643   PMID:24395925   PMID:24816252   PMID:26154055   PMID:28514442   PMID:28671672   PMID:30021884  
PMID:30378028   PMID:31056398   PMID:31448845   PMID:31536960   PMID:33961781   PMID:34079125   PMID:35831314   PMID:35944360   PMID:36215168   PMID:36413408   PMID:37828898  


Genomics

Comparative Map Data
CRAT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389129,094,794 - 129,110,793 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9129,094,142 - 129,111,189 (-)EnsemblGRCh38hg38GRCh38
GRCh379131,857,073 - 131,873,072 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369130,896,894 - 130,912,904 (-)NCBINCBI36Build 36hg18NCBI36
Build 349128,936,628 - 128,952,637NCBI
Celera9102,509,370 - 102,525,353 (-)NCBICelera
Cytogenetic Map9q34.11NCBI
HuRef9101,464,043 - 101,480,035 (-)NCBIHuRef
CHM1_19132,007,896 - 132,023,887 (-)NCBICHM1_1
T2T-CHM13v2.09141,298,255 - 141,314,668 (-)NCBIT2T-CHM13v2.0
Crat
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39230,290,483 - 30,305,602 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl230,290,483 - 30,305,825 (-)EnsemblGRCm39 Ensembl
GRCm38230,400,476 - 30,416,017 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl230,400,471 - 30,415,813 (-)EnsemblGRCm38mm10GRCm38
MGSCv37230,255,996 - 30,271,268 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36230,222,485 - 30,237,757 (-)NCBIMGSCv36mm8
Celera230,105,381 - 30,120,546 (-)NCBICelera
Cytogenetic Map2BNCBI
cM Map221.69NCBI
Crat
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8334,073,504 - 34,087,099 (-)NCBIGRCr8
mRatBN7.2313,675,684 - 13,689,282 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl313,675,684 - 13,689,255 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx316,747,217 - 16,760,812 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0325,332,179 - 25,345,774 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0323,578,162 - 23,591,743 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.038,967,984 - 8,981,959 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl38,968,417 - 8,981,362 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0314,320,758 - 14,334,741 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.439,447,585 - 9,461,180 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.139,447,886 - 9,461,480 (-)NCBI
Celera38,442,229 - 8,455,824 (-)NCBICelera
Cytogenetic Map3p12NCBI
Crat
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555701,417,608 - 1,428,720 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555701,417,608 - 1,428,720 (-)NCBIChiLan1.0ChiLan1.0
CRAT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21110,240,748 - 10,256,782 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1910,243,094 - 10,259,128 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v09100,220,019 - 100,236,061 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19128,880,057 - 128,896,484 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9128,880,057 - 128,896,484 (-)Ensemblpanpan1.1panPan2
CRAT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1954,566,708 - 54,580,301 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl954,566,407 - 54,580,025 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha953,762,362 - 53,775,887 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0955,462,309 - 55,475,915 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl955,462,359 - 55,498,279 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1954,248,963 - 54,262,568 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0954,560,854 - 54,574,458 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0954,654,564 - 54,668,171 (+)NCBIUU_Cfam_GSD_1.0
Crat
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947196,755,044 - 196,768,721 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648716,523,571 - 16,537,248 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648716,523,571 - 16,537,242 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CRAT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1269,386,650 - 269,401,331 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11269,387,430 - 269,401,334 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21303,403,630 - 303,417,527 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CRAT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1129,057,365 - 9,072,692 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl129,058,824 - 9,072,813 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666096491,149 - 506,483 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Crat
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247606,002,568 - 6,013,491 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247606,002,032 - 6,013,489 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CRAT
229 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000755.5(CRAT):c.1464+306_1527+181del deletion See cases [RCV001291769] Chr9:129097069..129097707 [GRCh38]
Chr9:131859348..131859986 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1 copy number loss See cases [RCV000052923] Chr9:125993583..129682375 [GRCh38]
Chr9:128755862..132444654 [GRCh37]
Chr9:127795683..131484475 [NCBI36]
Chr9:9q33.3-34.11		 pathogenic
GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1 copy number loss See cases [RCV000052934] Chr9:127874581..130421811 [GRCh38]
Chr9:130636860..133297198 [GRCh37]
Chr9:129676681..132287019 [NCBI36]
Chr9:9q34.11		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3 copy number gain See cases [RCV000053777] Chr9:127919476..130079974 [GRCh38]
Chr9:130681755..132842253 [GRCh37]
Chr9:129721576..131882074 [NCBI36]
Chr9:9q34.11		 pathogenic
GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3 copy number gain See cases [RCV000053778] Chr9:129036400..130578683 [GRCh38]
Chr9:131798679..133454070 [GRCh37]
Chr9:130838500..132443891 [NCBI36]
Chr9:9q34.11		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3 copy number gain See cases [RCV000053779] Chr9:129068560..136495351 [GRCh38]
Chr9:131830839..139389803 [GRCh37]
Chr9:130870660..138509624 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
NM_000755.3(CRAT):c.1127C>T (p.Pro376Leu) single nucleotide variant Malignant melanoma [RCV000068556] Chr9:129098609 [GRCh38]
Chr9:131860888 [GRCh37]
Chr9:130900709 [NCBI36]
Chr9:9q34.11		 not provided
NM_000755.5(CRAT):c.794C>T (p.Thr265Ile) single nucleotide variant not provided [RCV001302529] Chr9:129101894 [GRCh38]
Chr9:131864173 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3 copy number gain See cases [RCV000134916] Chr9:129068560..138179445 [GRCh38]
Chr9:131830839..141073897 [GRCh37]
Chr9:130870660..140193718 [NCBI36]
Chr9:9q34.11-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.11(chr9:128610170-129368351)x1 copy number loss See cases [RCV000138126] Chr9:128610170..129368351 [GRCh38]
Chr9:131372449..132130630 [GRCh37]
Chr9:130412270..131170451 [NCBI36]
Chr9:9q34.11		 uncertain significance
GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3 copy number gain See cases [RCV000137775] Chr9:128839676..130912873 [GRCh38]
Chr9:131601955..133788260 [GRCh37]
Chr9:130641776..132778081 [NCBI36]
Chr9:9q34.11-34.12		 uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000755.5(CRAT):c.1145G>A (p.Arg382Gln) single nucleotide variant Inborn genetic diseases [RCV003245736] Chr9:129098591 [GRCh38]
Chr9:131860870 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1705G>A (p.Val569Met) single nucleotide variant Deficiency of carnitine acetyltransferase [RCV000766223]|not provided [RCV001855853] Chr9:129095573 [GRCh38]
Chr9:131857852 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071) copy number loss not provided [RCV000767561] Chr9:131670024..134514071 [GRCh37]
Chr9:9q34.11-34.13		 likely pathogenic
NM_000755.5(CRAT):c.962G>A (p.Arg321His) single nucleotide variant Neurodegeneration with brain iron accumulation 8 [RCV000594657]|Neurodegeneration with brain iron accumulation [RCV000709992]|not provided [RCV002531113] Chr9:129100533 [GRCh38]
Chr9:131862812 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|uncertain significance
NM_000755.5(CRAT):c.329A>G (p.Tyr110Cys) single nucleotide variant CRAT-related condition [RCV003938131]|Deficiency of carnitine acetyltransferase [RCV000766224]|not provided [RCV001413508] Chr9:129104269 [GRCh38]
Chr9:131866548 [GRCh37]
Chr9:9q34.11		 likely pathogenic|likely benign
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3		 pathogenic
GRCh37/hg19 9q34.11(chr9:130390139-132760275)x1 copy number loss See cases [RCV000445837] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
NM_000755.5(CRAT):c.1208T>C (p.Met403Thr) single nucleotide variant Inborn genetic diseases [RCV003277820] Chr9:129098369 [GRCh38]
Chr9:131860648 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1 copy number loss not provided [RCV000748671] Chr9:129370440..133866894 [GRCh37]
Chr9:9q33.3-34.12		 pathogenic
GRCh37/hg19 9q34.11-34.12(chr9:131413885-133866894)x1 copy number loss not provided [RCV000748699] Chr9:131413885..133866894 [GRCh37]
Chr9:9q34.11-34.12		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000755.5(CRAT):c.871A>G (p.Thr291Ala) single nucleotide variant not provided [RCV000999240] Chr9:129100624 [GRCh38]
Chr9:131862903 [GRCh37]
Chr9:9q34.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_000755.5(CRAT):c.1557C>T (p.His519=) single nucleotide variant not provided [RCV000918124] Chr9:129096106 [GRCh38]
Chr9:131858385 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1036G>A (p.Ala346Thr) single nucleotide variant CRAT-related condition [RCV003902976]|not provided [RCV000918125] Chr9:129099915 [GRCh38]
Chr9:131862194 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_000755.5(CRAT):c.830G>A (p.Arg277His) single nucleotide variant Neurodegeneration with brain iron accumulation 8 [RCV000845048]|not provided [RCV001858451] Chr9:129100665 [GRCh38]
Chr9:131862944 [GRCh37]
Chr9:9q34.11		 uncertain significance|not provided
GRCh37/hg19 9q34.11(chr9:130957344-132310210)x1 copy number loss not provided [RCV001006274] Chr9:130957344..132310210 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_000755.5(CRAT):c.1098G>A (p.Glu366=) single nucleotide variant not provided [RCV000999239] Chr9:129098638 [GRCh38]
Chr9:131860917 [GRCh37]
Chr9:9q34.11		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000755.5(CRAT):c.969C>T (p.Phe323=) single nucleotide variant not provided [RCV000954128] Chr9:129100526 [GRCh38]
Chr9:131862805 [GRCh37]
Chr9:9q34.11		 benign
GRCh37/hg19 9q34.11(chr9:131094304-131863858)x3 copy number gain not provided [RCV001006275] Chr9:131094304..131863858 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1867del (p.Arg623fs) deletion not provided [RCV001531741] Chr9:129095411 [GRCh38]
Chr9:131857690 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1023C>T (p.Tyr341=) single nucleotide variant not provided [RCV001200193] Chr9:129099928 [GRCh38]
Chr9:131862207 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.817C>T (p.Arg273Trp) single nucleotide variant Neurodegeneration with brain iron accumulation 8 [RCV001836999]|not provided [RCV001370622] Chr9:129100678 [GRCh38]
Chr9:131862957 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1328+4C>T single nucleotide variant not provided [RCV001371675] Chr9:129098245 [GRCh38]
Chr9:131860524 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1034C>T (p.Ala345Val) single nucleotide variant not provided [RCV001357416] Chr9:129099917 [GRCh38]
Chr9:131862196 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1335C>T (p.Tyr445=) single nucleotide variant CRAT-related condition [RCV003966086]|not provided [RCV001514312] Chr9:129098142 [GRCh38]
Chr9:131860421 [GRCh37]
Chr9:9q34.11		 benign
NM_000755.5(CRAT):c.1666-8G>A single nucleotide variant not provided [RCV001435099] Chr9:129095620 [GRCh38]
Chr9:131857899 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1870G>C (p.Ala624Pro) single nucleotide variant not provided [RCV001517119] Chr9:129095408 [GRCh38]
Chr9:131857687 [GRCh37]
Chr9:9q34.11		 benign
NM_000755.5(CRAT):c.354G>C (p.Ser118=) single nucleotide variant CRAT-related condition [RCV003921140]|not provided [RCV001518567] Chr9:129104244 [GRCh38]
Chr9:131866523 [GRCh37]
Chr9:9q34.11		 benign
NM_000755.5(CRAT):c.954C>T (p.Ser318=) single nucleotide variant CRAT-related condition [RCV003956189]|not provided [RCV001518298] Chr9:129100541 [GRCh38]
Chr9:131862820 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_000755.5(CRAT):c.384C>G (p.Asp128Glu) single nucleotide variant not provided [RCV001515111] Chr9:129104214 [GRCh38]
Chr9:131866493 [GRCh37]
Chr9:9q34.11		 benign
NM_000755.5(CRAT):c.1114C>A (p.Leu372Met) single nucleotide variant Neurodegeneration with brain iron accumulation 8 [RCV001664940]|not provided [RCV001515961] Chr9:129098622 [GRCh38]
Chr9:131860901 [GRCh37]
Chr9:9q34.11		 benign
NM_000755.5(CRAT):c.984+9C>T single nucleotide variant Neurodegeneration with brain iron accumulation 8 [RCV001664941]|not provided [RCV001515962] Chr9:129100502 [GRCh38]
Chr9:131862781 [GRCh37]
Chr9:9q34.11		 benign
NM_000755.5(CRAT):c.350A>T (p.Tyr117Phe) single nucleotide variant Inborn genetic diseases [RCV002675462]|not provided [RCV002025829] Chr9:129104248 [GRCh38]
Chr9:131866527 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.82T>C (p.Phe28Leu) single nucleotide variant not provided [RCV001983321] Chr9:129108023 [GRCh38]
Chr9:131870302 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1716C>G (p.Asp572Glu) single nucleotide variant not provided [RCV002040367] Chr9:129095562 [GRCh38]
Chr9:131857841 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1841T>C (p.Met614Thr) single nucleotide variant not provided [RCV002024833] Chr9:129095437 [GRCh38]
Chr9:131857716 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1292C>A (p.Ala431Asp) single nucleotide variant not provided [RCV001863560] Chr9:129098285 [GRCh38]
Chr9:131860564 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.901C>T (p.Arg301Cys) single nucleotide variant not provided [RCV001928257] Chr9:129100594 [GRCh38]
Chr9:131862873 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1037C>T (p.Ala346Val) single nucleotide variant not provided [RCV001988091] Chr9:129099914 [GRCh38]
Chr9:131862193 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.121C>T (p.Pro41Ser) single nucleotide variant not provided [RCV002008164] Chr9:129107984 [GRCh38]
Chr9:131870263 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1699G>A (p.Gly567Arg) single nucleotide variant not provided [RCV002024629] Chr9:129095579 [GRCh38]
Chr9:131857858 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.794C>A (p.Thr265Asn) single nucleotide variant Inborn genetic diseases [RCV003170412]|not provided [RCV002006433] Chr9:129101894 [GRCh38]
Chr9:131864173 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1085+1G>A single nucleotide variant not provided [RCV001985769] Chr9:129099865 [GRCh38]
Chr9:131862144 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3 copy number gain not provided [RCV001832977] Chr9:128523763..132604808 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
NM_000755.5(CRAT):c.269G>A (p.Arg90Gln) single nucleotide variant not provided [RCV001969494] Chr9:129107836 [GRCh38]
Chr9:131870115 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_000755.5(CRAT):c.784G>A (p.Ala262Thr) single nucleotide variant Inborn genetic diseases [RCV002625352]|not provided [RCV001987009] Chr9:129101904 [GRCh38]
Chr9:131864183 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1405C>T (p.Arg469Cys) single nucleotide variant not provided [RCV001964644] Chr9:129098072 [GRCh38]
Chr9:131860351 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.367A>G (p.Met123Val) single nucleotide variant not provided [RCV001892159] Chr9:129104231 [GRCh38]
Chr9:131866510 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.613G>A (p.Val205Met) single nucleotide variant Inborn genetic diseases [RCV003167371]|not provided [RCV001946045] Chr9:129102417 [GRCh38]
Chr9:131864696 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.409C>T (p.Arg137Ter) single nucleotide variant not provided [RCV001984116] Chr9:129104189 [GRCh38]
Chr9:131866468 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1717G>A (p.Gly573Ser) single nucleotide variant not provided [RCV002041287] Chr9:129095561 [GRCh38]
Chr9:131857840 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q34.11(chr9:130390139-132760275) copy number loss not specified [RCV002052848] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_000755.5(CRAT):c.1534C>T (p.Arg512Cys) single nucleotide variant not provided [RCV002001137] Chr9:129096129 [GRCh38]
Chr9:131858408 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.80G>A (p.Arg27His) single nucleotide variant not provided [RCV001997562] Chr9:129108025 [GRCh38]
Chr9:131870304 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.805+5_805+7del deletion not provided [RCV001920529] Chr9:129101876..129101878 [GRCh38]
Chr9:131864155..131864157 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1060C>A (p.Leu354Ile) single nucleotide variant not provided [RCV002019682] Chr9:129099891 [GRCh38]
Chr9:131862170 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1591C>G (p.Leu531Val) single nucleotide variant not provided [RCV001933094] Chr9:129096072 [GRCh38]
Chr9:131858351 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.491G>C (p.Gly164Ala) single nucleotide variant not provided [RCV001901372] Chr9:129102539 [GRCh38]
Chr9:131864818 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1160C>G (p.Pro387Arg) single nucleotide variant not provided [RCV002012946] Chr9:129098576 [GRCh38]
Chr9:131860855 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1206-2A>G single nucleotide variant not provided [RCV001898022] Chr9:129098373 [GRCh38]
Chr9:131860652 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.411-10A>G single nucleotide variant not provided [RCV001918222] Chr9:129103076 [GRCh38]
Chr9:131865355 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.388G>A (p.Val130Met) single nucleotide variant Inborn genetic diseases [RCV003247133]|not provided [RCV001915698] Chr9:129104210 [GRCh38]
Chr9:131866489 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.332G>A (p.Arg111His) single nucleotide variant not provided [RCV002009755] Chr9:129104266 [GRCh38]
Chr9:131866545 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.696G>C (p.Gln232His) single nucleotide variant not provided [RCV001991639] Chr9:129101992 [GRCh38]
Chr9:131864271 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.631-3C>T single nucleotide variant not provided [RCV002030349] Chr9:129102060 [GRCh38]
Chr9:131864339 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.364G>A (p.Val122Met) single nucleotide variant not provided [RCV001932565] Chr9:129104234 [GRCh38]
Chr9:131866513 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1078G>A (p.Glu360Lys) single nucleotide variant not provided [RCV001925439] Chr9:129099873 [GRCh38]
Chr9:131862152 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1784G>T (p.Cys595Phe) single nucleotide variant Inborn genetic diseases [RCV002552906]|not provided [RCV001924871] Chr9:129095494 [GRCh38]
Chr9:131857773 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1630G>A (p.Ala544Thr) single nucleotide variant not provided [RCV002029900] Chr9:129096033 [GRCh38]
Chr9:131858312 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1770G>A (p.Ser590=) single nucleotide variant not provided [RCV001955645] Chr9:129095508 [GRCh38]
Chr9:131857787 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.818G>A (p.Arg273Gln) single nucleotide variant not provided [RCV001936603] Chr9:129100677 [GRCh38]
Chr9:131862956 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.738G>A (p.Glu246=) single nucleotide variant not provided [RCV002208364] Chr9:129101950 [GRCh38]
Chr9:131864229 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1479G>A (p.Val493=) single nucleotide variant not provided [RCV002191379] Chr9:129097298 [GRCh38]
Chr9:131859577 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.489G>C (p.Leu163=) single nucleotide variant not provided [RCV002124493] Chr9:129102541 [GRCh38]
Chr9:131864820 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1527+13G>A single nucleotide variant not provided [RCV002191461] Chr9:129097237 [GRCh38]
Chr9:131859516 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1713C>T (p.Pro571=) single nucleotide variant not provided [RCV002147935] Chr9:129095565 [GRCh38]
Chr9:131857844 [GRCh37]
Chr9:9q34.11		 benign
NM_000755.5(CRAT):c.805+17G>A single nucleotide variant not provided [RCV002128040] Chr9:129101866 [GRCh38]
Chr9:131864145 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1464G>A (p.Thr488=) single nucleotide variant not provided [RCV002133857] Chr9:129098013 [GRCh38]
Chr9:131860292 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.612C>T (p.Thr204=) single nucleotide variant not provided [RCV002071075] Chr9:129102418 [GRCh38]
Chr9:131864697 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1206-18C>G single nucleotide variant not provided [RCV002172915] Chr9:129098389 [GRCh38]
Chr9:131860668 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.894C>T (p.Asp298=) single nucleotide variant not provided [RCV002095527] Chr9:129100601 [GRCh38]
Chr9:131862880 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.411-20T>C single nucleotide variant not provided [RCV002171903] Chr9:129103086 [GRCh38]
Chr9:131865365 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1452C>T (p.Asp484=) single nucleotide variant Neurodegeneration with brain iron accumulation 8 [RCV002494439]|not provided [RCV002131537] Chr9:129098025 [GRCh38]
Chr9:131860304 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_000755.5(CRAT):c.464+17del deletion not provided [RCV002076773] Chr9:129102996 [GRCh38]
Chr9:131865275 [GRCh37]
Chr9:9q34.11		 benign
NM_000755.5(CRAT):c.879C>T (p.Pro293=) single nucleotide variant not provided [RCV002174580] Chr9:129100616 [GRCh38]
Chr9:131862895 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1368C>T (p.Ser456=) single nucleotide variant not provided [RCV002157296] Chr9:129098109 [GRCh38]
Chr9:131860388 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1205+17G>A single nucleotide variant not provided [RCV002082994] Chr9:129098514 [GRCh38]
Chr9:131860793 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1428C>G (p.Leu476=) single nucleotide variant not provided [RCV002141595] Chr9:129098049 [GRCh38]
Chr9:131860328 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1114= (p.Leu372=) variation not provided [RCV002100443] Chr9:129098622 [GRCh38]
Chr9:131860901 [GRCh37]
Chr9:9q34.11		 benign
NM_000755.5(CRAT):c.1844G>T (p.Arg615Leu) single nucleotide variant not provided [RCV002122794] Chr9:129095434 [GRCh38]
Chr9:131857713 [GRCh37]
Chr9:9q34.11		 benign
NM_000755.5(CRAT):c.1785C>T (p.Cys595=) single nucleotide variant not provided [RCV002180478] Chr9:129095493 [GRCh38]
Chr9:131857772 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1797C>T (p.Asn599=) single nucleotide variant Neurodegeneration with brain iron accumulation 8 [RCV002494271]|not provided [RCV002122931] Chr9:129095481 [GRCh38]
Chr9:131857760 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_000755.5(CRAT):c.1458C>T (p.Ser486=) single nucleotide variant not provided [RCV002104066] Chr9:129098019 [GRCh38]
Chr9:131860298 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1764C>T (p.Ser588=) single nucleotide variant not provided [RCV002161807] Chr9:129095514 [GRCh38]
Chr9:131857793 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.27+11C>T single nucleotide variant not provided [RCV002183230] Chr9:129110472 [GRCh38]
Chr9:131872751 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1491G>A (p.Arg497=) single nucleotide variant not provided [RCV002136744] Chr9:129097286 [GRCh38]
Chr9:131859565 [GRCh37]
Chr9:9q34.11		 benign
NM_000755.5(CRAT):c.984+20C>T single nucleotide variant not provided [RCV002135623] Chr9:129100491 [GRCh38]
Chr9:131862770 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.805+15C>T single nucleotide variant not provided [RCV002121667] Chr9:129101868 [GRCh38]
Chr9:131864147 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1665+18G>A single nucleotide variant not provided [RCV002161057] Chr9:129095980 [GRCh38]
Chr9:131858259 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.178GAG[2] (p.Glu62del) microsatellite not provided [RCV003112496] Chr9:129107919..129107921 [GRCh38]
Chr9:131870198..131870200 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_131857676)_(135942612_?)dup duplication not provided [RCV003116730] Chr9:131857676..135942612 [GRCh37]
Chr9:9q34.11-34.2		 uncertain significance
NM_000755.5(CRAT):c.1811C>T (p.Ala604Val) single nucleotide variant not provided [RCV003118472] Chr9:129095467 [GRCh38]
Chr9:131857746 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_131087402)_(141016451_?)dup duplication Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV003119700] Chr9:131087402..141016451 [GRCh37]
Chr9:9q34.11-34.3		 uncertain significance
NM_000755.5(CRAT):c.564C>A (p.Asp188Glu) single nucleotide variant not provided [RCV002297784] Chr9:129102466 [GRCh38]
Chr9:131864745 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1033G>A (p.Ala345Thr) single nucleotide variant not provided [RCV002303526] Chr9:129099918 [GRCh38]
Chr9:131862197 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.221A>G (p.Gln74Arg) single nucleotide variant not provided [RCV002298130] Chr9:129107884 [GRCh38]
Chr9:131870163 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.410+12G>A single nucleotide variant not provided [RCV003011925] Chr9:129104176 [GRCh38]
Chr9:131866455 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1001A>G (p.Asp334Gly) single nucleotide variant not provided [RCV002730705] Chr9:129099950 [GRCh38]
Chr9:131862229 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.47T>C (p.Leu16Pro) single nucleotide variant not provided [RCV002731229] Chr9:129108058 [GRCh38]
Chr9:131870337 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1704C>T (p.Pro568=) single nucleotide variant not provided [RCV002971192] Chr9:129095574 [GRCh38]
Chr9:131857853 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1769C>T (p.Ser590Leu) single nucleotide variant not provided [RCV002975295] Chr9:129095509 [GRCh38]
Chr9:131857788 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.65T>C (p.Met22Thr) single nucleotide variant not provided [RCV002974896] Chr9:129108040 [GRCh38]
Chr9:131870319 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.661G>A (p.Gly221Arg) single nucleotide variant Inborn genetic diseases [RCV002753231] Chr9:129102027 [GRCh38]
Chr9:131864306 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.910G>A (p.Val304Met) single nucleotide variant Inborn genetic diseases [RCV002753383]|not provided [RCV003778619] Chr9:129100585 [GRCh38]
Chr9:131862864 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.536C>T (p.Ser179Phe) single nucleotide variant Inborn genetic diseases [RCV002860090] Chr9:129102494 [GRCh38]
Chr9:131864773 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1051A>G (p.Ile351Val) single nucleotide variant not provided [RCV003075550] Chr9:129099900 [GRCh38]
Chr9:131862179 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1716C>T (p.Asp572=) single nucleotide variant not provided [RCV002908728] Chr9:129095562 [GRCh38]
Chr9:131857841 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.984+15G>A single nucleotide variant not provided [RCV002727286] Chr9:129100496 [GRCh38]
Chr9:131862775 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1106G>A (p.Arg369Gln) single nucleotide variant Inborn genetic diseases [RCV002753336] Chr9:129098630 [GRCh38]
Chr9:131860909 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1553G>A (p.Arg518Gln) single nucleotide variant not provided [RCV002972412] Chr9:129096110 [GRCh38]
Chr9:131858389 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1464+18A>G single nucleotide variant not provided [RCV002681144] Chr9:129097995 [GRCh38]
Chr9:131860274 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1450G>T (p.Asp484Tyr) single nucleotide variant not provided [RCV002975083] Chr9:129098027 [GRCh38]
Chr9:131860306 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.8C>T (p.Ala3Val) single nucleotide variant not provided [RCV002755169] Chr9:129110502 [GRCh38]
Chr9:131872781 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1287A>G (p.Pro429=) single nucleotide variant not provided [RCV003034636] Chr9:129098290 [GRCh38]
Chr9:131860569 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1345T>G (p.Cys449Gly) single nucleotide variant not provided [RCV002825278] Chr9:129098132 [GRCh38]
Chr9:131860411 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.27+18C>T single nucleotide variant not provided [RCV002889620] Chr9:129110465 [GRCh38]
Chr9:131872744 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.145C>T (p.His49Tyr) single nucleotide variant not provided [RCV002953139] Chr9:129107960 [GRCh38]
Chr9:131870239 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1294T>C (p.Phe432Leu) single nucleotide variant Inborn genetic diseases [RCV002953793]|not provided [RCV002953794] Chr9:129098283 [GRCh38]
Chr9:131860562 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.478G>A (p.Val160Met) single nucleotide variant not provided [RCV002976298] Chr9:129102552 [GRCh38]
Chr9:131864831 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1721A>G (p.Tyr574Cys) single nucleotide variant not provided [RCV002706769] Chr9:129095557 [GRCh38]
Chr9:131857836 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1644C>T (p.His548=) single nucleotide variant not provided [RCV003003190] Chr9:129096019 [GRCh38]
Chr9:131858298 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1526G>C (p.Arg509Pro) single nucleotide variant not provided [RCV002691180] Chr9:129097251 [GRCh38]
Chr9:131859530 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.9C>T (p.Ala3=) single nucleotide variant not provided [RCV002847427] Chr9:129110501 [GRCh38]
Chr9:131872780 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1814A>G (p.His605Arg) single nucleotide variant not provided [RCV002923226] Chr9:129095464 [GRCh38]
Chr9:131857743 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1786G>A (p.Ala596Thr) single nucleotide variant not provided [RCV002636988] Chr9:129095492 [GRCh38]
Chr9:131857771 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.840G>A (p.Gln280=) single nucleotide variant not provided [RCV002949585] Chr9:129100655 [GRCh38]
Chr9:131862934 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1868G>A (p.Arg623Gln) single nucleotide variant Inborn genetic diseases [RCV002692729] Chr9:129095410 [GRCh38]
Chr9:131857689 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.961C>T (p.Arg321Cys) single nucleotide variant Inborn genetic diseases [RCV002706390]|not provided [RCV002706391] Chr9:129100534 [GRCh38]
Chr9:131862813 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1536C>T (p.Arg512=) single nucleotide variant not provided [RCV002639709] Chr9:129096127 [GRCh38]
Chr9:131858406 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1588G>A (p.Asp530Asn) single nucleotide variant not provided [RCV002912495] Chr9:129096075 [GRCh38]
Chr9:131858354 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1567C>T (p.Leu523=) single nucleotide variant not provided [RCV002740041] Chr9:129096096 [GRCh38]
Chr9:131858375 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1116G>C (p.Leu372=) single nucleotide variant not provided [RCV002866568] Chr9:129098620 [GRCh38]
Chr9:131860899 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.548C>T (p.Pro183Leu) single nucleotide variant not provided [RCV002999457] Chr9:129102482 [GRCh38]
Chr9:131864761 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.895G>A (p.Val299Met) single nucleotide variant not provided [RCV002590338] Chr9:129100600 [GRCh38]
Chr9:131862879 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1843C>T (p.Arg615Cys) single nucleotide variant not provided [RCV002919047] Chr9:129095435 [GRCh38]
Chr9:131857714 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1A>C (p.Met1Leu) single nucleotide variant not provided [RCV002850998] Chr9:129110509 [GRCh38]
Chr9:131872788 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.549G>A (p.Pro183=) single nucleotide variant not provided [RCV002917283] Chr9:129102481 [GRCh38]
Chr9:131864760 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1077C>T (p.Ile359=) single nucleotide variant not provided [RCV002766192] Chr9:129099874 [GRCh38]
Chr9:131862153 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1406G>A (p.Arg469His) single nucleotide variant not provided [RCV002597018] Chr9:129098071 [GRCh38]
Chr9:131860350 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1374C>T (p.Arg458=) single nucleotide variant not provided [RCV002958746] Chr9:129098103 [GRCh38]
Chr9:131860382 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.27+18C>G single nucleotide variant not provided [RCV002852270] Chr9:129110465 [GRCh38]
Chr9:131872744 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.542G>A (p.Arg181Gln) single nucleotide variant not provided [RCV002594183] Chr9:129102488 [GRCh38]
Chr9:131864767 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1787C>T (p.Ala596Val) single nucleotide variant Inborn genetic diseases [RCV002764665] Chr9:129095491 [GRCh38]
Chr9:131857770 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.402T>A (p.Gly134=) single nucleotide variant not provided [RCV002666887] Chr9:129104196 [GRCh38]
Chr9:131866475 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.19A>G (p.Arg7Gly) single nucleotide variant not provided [RCV002745428] Chr9:129110491 [GRCh38]
Chr9:131872770 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.778G>C (p.Ala260Pro) single nucleotide variant not provided [RCV003042860] Chr9:129101910 [GRCh38]
Chr9:131864189 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1820T>C (p.Leu607Pro) single nucleotide variant not provided [RCV002593939] Chr9:129095458 [GRCh38]
Chr9:131857737 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1086-13G>A single nucleotide variant not provided [RCV002800660] Chr9:129098663 [GRCh38]
Chr9:131860942 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1830G>C (p.Ala610=) single nucleotide variant not provided [RCV002856479] Chr9:129095448 [GRCh38]
Chr9:131857727 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.973A>G (p.Lys325Glu) single nucleotide variant not provided [RCV002811578] Chr9:129100522 [GRCh38]
Chr9:131862801 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1672G>T (p.Ala558Ser) single nucleotide variant not provided [RCV002676363] Chr9:129095606 [GRCh38]
Chr9:131857885 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.387C>T (p.Phe129=) single nucleotide variant not provided [RCV002630648] Chr9:129104211 [GRCh38]
Chr9:131866490 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.318C>T (p.Ala106=) single nucleotide variant not provided [RCV002646845] Chr9:129104280 [GRCh38]
Chr9:131866559 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1765_1766del (p.Leu589fs) deletion not provided [RCV002922971] Chr9:129095512..129095513 [GRCh38]
Chr9:131857791..131857792 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.660C>T (p.Asp220=) single nucleotide variant not provided [RCV002599618] Chr9:129102028 [GRCh38]
Chr9:131864307 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.856G>A (p.Val286Met) single nucleotide variant not provided [RCV002938124] Chr9:129100639 [GRCh38]
Chr9:131862918 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.756C>T (p.Thr252=) single nucleotide variant not provided [RCV002631809] Chr9:129101932 [GRCh38]
Chr9:131864211 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.977C>T (p.Thr326Met) single nucleotide variant not provided [RCV002578514] Chr9:129100518 [GRCh38]
Chr9:131862797 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1606G>A (p.Asp536Asn) single nucleotide variant Inborn genetic diseases [RCV002585058]|not provided [RCV002598840] Chr9:129096057 [GRCh38]
Chr9:131858336 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.855C>T (p.Thr285=) single nucleotide variant not provided [RCV002600709] Chr9:129100640 [GRCh38]
Chr9:131862919 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.354G>A (p.Ser118=) single nucleotide variant not provided [RCV003090952] Chr9:129104244 [GRCh38]
Chr9:131866523 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.490G>C (p.Gly164Arg) single nucleotide variant not provided [RCV002714928] Chr9:129102540 [GRCh38]
Chr9:131864819 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.662G>C (p.Gly221Ala) single nucleotide variant not provided [RCV003091797] Chr9:129102026 [GRCh38]
Chr9:131864305 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.291+13A>G single nucleotide variant not provided [RCV003027674] Chr9:129107801 [GRCh38]
Chr9:131870080 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.142G>A (p.Asp48Asn) single nucleotide variant not provided [RCV002966994] Chr9:129107963 [GRCh38]
Chr9:131870242 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1867C>T (p.Arg623Trp) single nucleotide variant not provided [RCV002597728] Chr9:129095411 [GRCh38]
Chr9:131857690 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1044G>A (p.Gly348=) single nucleotide variant not provided [RCV003088221] Chr9:129099907 [GRCh38]
Chr9:131862186 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1710C>G (p.Val570=) single nucleotide variant not provided [RCV003062736] Chr9:129095568 [GRCh38]
Chr9:131857847 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.490G>A (p.Gly164Arg) single nucleotide variant not provided [RCV003086074] Chr9:129102540 [GRCh38]
Chr9:131864819 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1665+5_1665+9del deletion not provided [RCV003066116] Chr9:129095989..129095993 [GRCh38]
Chr9:131858268..131858272 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.235G>A (p.Val79Ile) single nucleotide variant not provided [RCV002654019] Chr9:129107870 [GRCh38]
Chr9:131870149 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.678G>A (p.Ala226=) single nucleotide variant not provided [RCV002654542] Chr9:129102010 [GRCh38]
Chr9:131864289 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1463C>T (p.Thr488Met) single nucleotide variant not provided [RCV003052751] Chr9:129098014 [GRCh38]
Chr9:131860293 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.388G>C (p.Val130Leu) single nucleotide variant not provided [RCV003050821] Chr9:129104210 [GRCh38]
Chr9:131866489 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.984+10G>A single nucleotide variant not provided [RCV002658428] Chr9:129100501 [GRCh38]
Chr9:131862780 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.70G>T (p.Ala24Ser) single nucleotide variant not provided [RCV002609598] Chr9:129108035 [GRCh38]
Chr9:131870314 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.945G>C (p.Arg315Ser) single nucleotide variant not provided [RCV002609635] Chr9:129100550 [GRCh38]
Chr9:131862829 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1515C>G (p.Gly505=) single nucleotide variant not provided [RCV002588464] Chr9:129097262 [GRCh38]
Chr9:131859541 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1138A>G (p.Lys380Glu) single nucleotide variant not provided [RCV002588692] Chr9:129098598 [GRCh38]
Chr9:131860877 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1844G>A (p.Arg615His) single nucleotide variant Inborn genetic diseases [RCV003195493] Chr9:129095434 [GRCh38]
Chr9:131857713 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1260C>A (p.Asp420Glu) single nucleotide variant Inborn genetic diseases [RCV003195652] Chr9:129098317 [GRCh38]
Chr9:131860596 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.118G>A (p.Val40Met) single nucleotide variant Inborn genetic diseases [RCV003176057] Chr9:129107987 [GRCh38]
Chr9:131870266 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.331C>T (p.Arg111Cys) single nucleotide variant Inborn genetic diseases [RCV003180524] Chr9:129104267 [GRCh38]
Chr9:131866546 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1151A>G (p.Asn384Ser) single nucleotide variant not provided [RCV003331477] Chr9:129098585 [GRCh38]
Chr9:131860864 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.277A>G (p.Lys93Glu) single nucleotide variant Inborn genetic diseases [RCV003344977] Chr9:129107828 [GRCh38]
Chr9:131870107 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1805G>A (p.Arg602His) single nucleotide variant Inborn genetic diseases [RCV003366335] Chr9:129095473 [GRCh38]
Chr9:131857752 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1178T>A (p.Ile393Asn) single nucleotide variant Inborn genetic diseases [RCV003371435] Chr9:129098558 [GRCh38]
Chr9:131860837 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1070A>G (p.Tyr357Cys) single nucleotide variant not provided [RCV003712695] Chr9:129099881 [GRCh38]
Chr9:131862160 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1584C>T (p.Ile528=) single nucleotide variant not provided [RCV003874424] Chr9:129096079 [GRCh38]
Chr9:131858358 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.159G>A (p.Ala53=) single nucleotide variant CRAT-related condition [RCV003929268]|not provided [RCV003570706] Chr9:129107946 [GRCh38]
Chr9:131870225 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.331C>G (p.Arg111Gly) single nucleotide variant not provided [RCV003569051] Chr9:129104267 [GRCh38]
Chr9:131866546 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1162G>A (p.Glu388Lys) single nucleotide variant CRAT-related condition [RCV003408730] Chr9:129098574 [GRCh38]
Chr9:131860853 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.631-3C>G single nucleotide variant not provided [RCV003695869] Chr9:129102060 [GRCh38]
Chr9:131864339 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.630+17C>G single nucleotide variant not provided [RCV003696405] Chr9:129102383 [GRCh38]
Chr9:131864662 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1086-17C>T single nucleotide variant not provided [RCV003712876] Chr9:129098667 [GRCh38]
Chr9:131860946 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1112C>T (p.Pro371Leu) single nucleotide variant not provided [RCV003547281] Chr9:129098624 [GRCh38]
Chr9:131860903 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1738C>T (p.Pro580Ser) single nucleotide variant Neurodegeneration with brain iron accumulation 8 [RCV003492980] Chr9:129095540 [GRCh38]
Chr9:131857819 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.654_655del (p.His218fs) microsatellite Neurodegeneration with brain iron accumulation 8 [RCV003492981] Chr9:129102033..129102034 [GRCh38]
Chr9:131864312..131864313 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1798G>A (p.Ala600Thr) single nucleotide variant not provided [RCV003827954] Chr9:129095480 [GRCh38]
Chr9:131857759 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1153A>G (p.Ile385Val) single nucleotide variant not provided [RCV003687546] Chr9:129098583 [GRCh38]
Chr9:131860862 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.631-12G>A single nucleotide variant not provided [RCV003826306] Chr9:129102069 [GRCh38]
Chr9:131864348 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.27+12G>T single nucleotide variant not provided [RCV003811345] Chr9:129110471 [GRCh38]
Chr9:131872750 [GRCh37]
Chr9:9q34.11		 benign
NM_000755.5(CRAT):c.1396G>A (p.Asp466Asn) single nucleotide variant not provided [RCV003850704] Chr9:129098081 [GRCh38]
Chr9:131860360 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.59C>T (p.Ser20Phe) single nucleotide variant not provided [RCV003668822] Chr9:129108046 [GRCh38]
Chr9:131870325 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1038G>A (p.Ala346=) single nucleotide variant not provided [RCV003814817] Chr9:129099913 [GRCh38]
Chr9:131862192 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1024G>A (p.Glu342Lys) single nucleotide variant not provided [RCV003836636] Chr9:129099927 [GRCh38]
Chr9:131862206 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1329-7C>T single nucleotide variant not provided [RCV003849783] Chr9:129098155 [GRCh38]
Chr9:131860434 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1733A>G (p.Tyr578Cys) single nucleotide variant not provided [RCV003838228] Chr9:129095545 [GRCh38]
Chr9:131857824 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1527G>C (p.Arg509=) single nucleotide variant not provided [RCV003548294] Chr9:129097250 [GRCh38]
Chr9:131859529 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1714G>A (p.Asp572Asn) single nucleotide variant not provided [RCV003834784] Chr9:129095564 [GRCh38]
Chr9:131857843 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.560A>G (p.Gln187Arg) single nucleotide variant not provided [RCV003834879] Chr9:129102470 [GRCh38]
Chr9:131864749 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1234A>G (p.Met412Val) single nucleotide variant not provided [RCV003833381] Chr9:129098343 [GRCh38]
Chr9:131860622 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1478T>G (p.Val493Gly) single nucleotide variant not provided [RCV003855153] Chr9:129097299 [GRCh38]
Chr9:131859578 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1206-13C>T single nucleotide variant not provided [RCV003811326] Chr9:129098384 [GRCh38]
Chr9:131860663 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1575G>T (p.Leu525=) single nucleotide variant not provided [RCV003836400] Chr9:129096088 [GRCh38]
Chr9:131858367 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1636G>A (p.Ala546Thr) single nucleotide variant not provided [RCV003731598] Chr9:129096027 [GRCh38]
Chr9:131858306 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1522G>C (p.Asp508His) single nucleotide variant not provided [RCV003552965] Chr9:129097255 [GRCh38]
Chr9:131859534 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1340A>G (p.Gln447Arg) single nucleotide variant not provided [RCV003683178] Chr9:129098137 [GRCh38]
Chr9:131860416 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.491G>T (p.Gly164Val) single nucleotide variant not provided [RCV003821404] Chr9:129102539 [GRCh38]
Chr9:131864818 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.689T>C (p.Phe230Ser) single nucleotide variant not provided [RCV003736286] Chr9:129101999 [GRCh38]
Chr9:131864278 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.985-14C>T single nucleotide variant not provided [RCV003710062] Chr9:129099980 [GRCh38]
Chr9:131862259 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1734T>C (p.Tyr578=) single nucleotide variant not provided [RCV003823567] Chr9:129095544 [GRCh38]
Chr9:131857823 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.84C>T (p.Phe28=) single nucleotide variant not provided [RCV003863741] Chr9:129108021 [GRCh38]
Chr9:131870300 [GRCh37]
Chr9:9q34.11		 likely benign
GRCh37/hg19 9q34.11-34.13(chr9:131815597-134209182)x1 copy number loss not specified [RCV003986823] Chr9:131815597..134209182 [GRCh37]
Chr9:9q34.11-34.13		 pathogenic
NM_000755.5(CRAT):c.291+19A>C single nucleotide variant not provided [RCV003568015] Chr9:129107795 [GRCh38]
Chr9:131870074 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1174G>A (p.Asp392Asn) single nucleotide variant not provided [RCV003868012] Chr9:129098562 [GRCh38]
Chr9:131860841 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1205+1G>C single nucleotide variant not provided [RCV003683444] Chr9:129098530 [GRCh38]
Chr9:131860809 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1206-7C>A single nucleotide variant not provided [RCV003557257] Chr9:129098378 [GRCh38]
Chr9:131860657 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.265C>A (p.Arg89Ser) single nucleotide variant not provided [RCV003732853] Chr9:129107840 [GRCh38]
Chr9:131870119 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.825C>T (p.Ser275=) single nucleotide variant not provided [RCV003722831] Chr9:129100670 [GRCh38]
Chr9:131862949 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.1410G>A (p.Ser470=) single nucleotide variant not provided [RCV003733315] Chr9:129098067 [GRCh38]
Chr9:131860346 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000755.5(CRAT):c.88G>A (p.Ala30Thr) single nucleotide variant not provided [RCV003857121] Chr9:129108017 [GRCh38]
Chr9:131870296 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.1792A>G (p.Thr598Ala) single nucleotide variant not provided [RCV003819658] Chr9:129095486 [GRCh38]
Chr9:131857765 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.125C>A (p.Pro42His) single nucleotide variant not provided [RCV003844028] Chr9:129107980 [GRCh38]
Chr9:131870259 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000755.5(CRAT):c.444T>G (p.Asp148Glu) single nucleotide variant not provided [RCV003675316] Chr9:129103033 [GRCh38]
Chr9:131865312 [GRCh37]
Chr9:9q34.11		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3556
Count of miRNA genes:1037
Interacting mature miRNAs:1278
Transcripts:ENST00000318080, ENST00000393384, ENST00000415948, ENST00000441796, ENST00000455396, ENST00000455830, ENST00000458362, ENST00000464290, ENST00000467343
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-145966  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,866,081 - 131,866,364UniSTSGRCh37
Build 369130,905,902 - 130,906,185RGDNCBI36
Celera9102,518,371 - 102,518,654RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,473,046 - 101,473,329UniSTS
TNG Radiation Hybrid Map949757.0UniSTS
ECD01248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,864,169 - 131,865,040UniSTSGRCh37
Build 369130,903,990 - 130,904,861RGDNCBI36
Celera9102,516,459 - 102,517,330RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,471,134 - 101,472,005UniSTS
ECD04288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,860,311 - 131,861,079UniSTSGRCh37
Build 369130,900,132 - 130,900,900RGDNCBI36
Celera9102,512,608 - 102,513,376RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,467,282 - 101,468,050UniSTS
ECD05750  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,857,204 - 131,857,931UniSTSGRCh37
Build 369130,897,025 - 130,897,752RGDNCBI36
Celera9102,509,501 - 102,510,228RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,464,174 - 101,464,901UniSTS
ECD07901  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,870,027 - 131,870,695UniSTSGRCh37
Build 369130,909,848 - 130,910,516RGDNCBI36
Celera9102,522,316 - 102,522,984RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,476,992 - 101,477,660UniSTS
ECD08076  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,868,631 - 131,869,295UniSTSGRCh37
Build 369130,908,452 - 130,909,116RGDNCBI36
Celera9102,520,920 - 102,521,584RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,475,596 - 101,476,260UniSTS
ECD08223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,870,754 - 131,871,414UniSTSGRCh37
Build 369130,910,575 - 130,911,235RGDNCBI36
Celera9102,523,043 - 102,523,703RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,477,719 - 101,478,379UniSTS
ECD08923  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,871,464 - 131,872,105UniSTSGRCh37
Build 369130,911,285 - 130,911,926RGDNCBI36
Celera9102,523,753 - 102,524,394RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34UniSTS
HuRef9101,478,429 - 101,479,070UniSTS
ECD09255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,862,544 - 131,863,177UniSTSGRCh37
Build 369130,902,365 - 130,902,998RGDNCBI36
Celera9102,514,836 - 102,515,467RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,469,511 - 101,470,142UniSTS
ECD09563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,872,876 - 131,873,501UniSTSGRCh37
Build 369130,912,697 - 130,913,322RGDNCBI36
Celera9102,525,159 - 102,525,784RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34UniSTS
HuRef9101,479,841 - 101,480,466UniSTS
ECD09808  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,874,305 - 131,874,924UniSTSGRCh37
Build 369130,914,126 - 130,914,745RGDNCBI36
Celera9102,526,588 - 102,527,207RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34UniSTS
HuRef9101,481,270 - 101,481,889UniSTS
ECD11516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,867,920 - 131,868,489UniSTSGRCh37
Build 369130,907,741 - 130,908,310RGDNCBI36
Celera9102,520,209 - 102,520,778RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,474,885 - 101,475,454UniSTS
ECD11793  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,873,660 - 131,874,221UniSTSGRCh37
Build 369130,913,481 - 130,914,042RGDNCBI36
Celera9102,525,943 - 102,526,504RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34UniSTS
HuRef9101,480,625 - 101,481,186UniSTS
ECD12556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,872,261 - 131,872,801UniSTSGRCh37
Build 369130,912,082 - 130,912,622RGDNCBI36
Celera9102,524,550 - 102,525,090RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34UniSTS
HuRef9101,479,226 - 101,479,766UniSTS
ECD13437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,865,154 - 131,865,671UniSTSGRCh37
Build 369130,904,975 - 130,905,492RGDNCBI36
Celera9102,517,444 - 102,517,961RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,472,119 - 101,472,636UniSTS
ECD14297  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,865,708 - 131,866,204UniSTSGRCh37
Build 369130,905,529 - 130,906,025RGDNCBI36
Celera9102,517,998 - 102,518,494RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,472,673 - 101,473,169UniSTS
ECD16034  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,858,079 - 131,858,534UniSTSGRCh37
Build 369130,897,900 - 130,898,355RGDNCBI36
Celera9102,510,376 - 102,510,831RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,465,049 - 101,465,504UniSTS
ECD18337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,866,490 - 131,866,853UniSTSGRCh37
Build 369130,906,311 - 130,906,674RGDNCBI36
Celera9102,518,780 - 102,519,143RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,473,455 - 101,473,818UniSTS
ECD19217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,862,032 - 131,862,361UniSTSGRCh37
Build 369130,901,853 - 130,902,182RGDNCBI36
Celera9102,514,324 - 102,514,653RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,468,999 - 101,469,328UniSTS
ECD21568  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,859,410 - 131,859,655UniSTSGRCh37
Build 369130,899,231 - 130,899,476RGDNCBI36
Celera9102,511,707 - 102,511,952RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,466,380 - 101,466,625UniSTS
REN36224  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,874,638 - 131,874,883UniSTSGRCh37
Build 369130,914,459 - 130,914,704RGDNCBI36
Celera9102,526,921 - 102,527,166RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34UniSTS
HuRef9101,481,603 - 101,481,848UniSTS
REN36225  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,874,420 - 131,874,660UniSTSGRCh37
Build 369130,914,241 - 130,914,481RGDNCBI36
Celera9102,526,703 - 102,526,943RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34UniSTS
HuRef9101,481,385 - 101,481,625UniSTS
REN36226  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,874,198 - 131,874,444UniSTSGRCh37
Build 369130,914,019 - 130,914,265RGDNCBI36
Celera9102,526,481 - 102,526,727RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34UniSTS
HuRef9101,481,163 - 101,481,409UniSTS
REN36227  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,873,989 - 131,874,221UniSTSGRCh37
Build 369130,913,810 - 130,914,042RGDNCBI36
Celera9102,526,272 - 102,526,504RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34UniSTS
HuRef9101,480,954 - 101,481,186UniSTS
REN36228  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,873,720 - 131,873,984UniSTSGRCh37
Build 369130,913,541 - 130,913,805RGDNCBI36
Celera9102,526,003 - 102,526,267RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34UniSTS
HuRef9101,480,685 - 101,480,949UniSTS
REN36229  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,873,493 - 131,873,743UniSTSGRCh37
Build 369130,913,314 - 130,913,564RGDNCBI36
Celera9102,525,776 - 102,526,026RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34UniSTS
HuRef9101,480,458 - 101,480,708UniSTS
REN36230  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,873,283 - 131,873,514UniSTSGRCh37
Build 369130,913,104 - 130,913,335RGDNCBI36
Celera9102,525,566 - 102,525,797RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34UniSTS
HuRef9101,480,248 - 101,480,479UniSTS
REN36231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,873,046 - 131,873,270UniSTSGRCh37
Build 369130,912,867 - 130,913,091RGDNCBI36
Celera9102,525,329 - 102,525,553RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34UniSTS
HuRef9101,480,011 - 101,480,235UniSTS
REN36232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,872,772 - 131,873,004UniSTSGRCh37
Build 369130,912,593 - 130,912,825RGDNCBI36
Celera9102,525,061 - 102,525,287RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34UniSTS
HuRef9101,479,737 - 101,479,969UniSTS
REN36233  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,872,570 - 131,872,796UniSTSGRCh37
Build 369130,912,391 - 130,912,617RGDNCBI36
Celera9102,524,859 - 102,525,085RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34UniSTS
HuRef9101,479,535 - 101,479,761UniSTS
REN36234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,872,333 - 131,872,560UniSTSGRCh37
Build 369130,912,154 - 130,912,381RGDNCBI36
Celera9102,524,622 - 102,524,849RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34UniSTS
HuRef9101,479,298 - 101,479,525UniSTS
REN36235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,872,079 - 131,872,329UniSTSGRCh37
Build 369130,911,900 - 130,912,150RGDNCBI36
Celera9102,524,368 - 102,524,618RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34UniSTS
HuRef9101,479,044 - 101,479,294UniSTS
REN36236  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,871,848 - 131,872,099UniSTSGRCh37
Build 369130,911,669 - 130,911,920RGDNCBI36
Celera9102,524,137 - 102,524,388RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34UniSTS
HuRef9101,478,813 - 101,479,064UniSTS
REN36237  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,871,634 - 131,871,872UniSTSGRCh37
Build 369130,911,455 - 130,911,693RGDNCBI36
Celera9102,523,923 - 102,524,161RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34UniSTS
HuRef9101,478,599 - 101,478,837UniSTS
REN36238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,871,399 - 131,871,654UniSTSGRCh37
Build 369130,911,220 - 130,911,475RGDNCBI36
Celera9102,523,688 - 102,523,943RGD
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map9q34UniSTS
HuRef9101,478,364 - 101,478,619UniSTS
REN36239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,871,191 - 131,871,417UniSTSGRCh37
Build 369130,911,012 - 130,911,238RGDNCBI36
Celera9102,523,480 - 102,523,706RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,478,156 - 101,478,382UniSTS
REN36240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,870,964 - 131,871,214UniSTSGRCh37
Build 369130,910,785 - 130,911,035RGDNCBI36
Celera9102,523,253 - 102,523,503RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,477,929 - 101,478,179UniSTS
REN36241  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,870,757 - 131,870,984UniSTSGRCh37
Build 369130,910,578 - 130,910,805RGDNCBI36
Celera9102,523,046 - 102,523,273RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,477,722 - 101,477,949UniSTS
REN36242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,870,533 - 131,870,781UniSTSGRCh37
Build 369130,910,354 - 130,910,602RGDNCBI36
Celera9102,522,822 - 102,523,070RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,477,498 - 101,477,746UniSTS
REN36243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,870,317 - 131,870,555UniSTSGRCh37
Build 369130,910,138 - 130,910,376RGDNCBI36
Celera9102,522,606 - 102,522,844RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,477,282 - 101,477,520UniSTS
REN36244  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,870,087 - 131,870,328UniSTSGRCh37
Build 369130,909,908 - 130,910,149RGDNCBI36
Celera9102,522,376 - 102,522,617RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,477,052 - 101,477,293UniSTS
REN36245  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,869,856 - 131,870,107UniSTSGRCh37
Build 369130,909,677 - 130,909,928RGDNCBI36
Celera9102,522,145 - 102,522,396RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,476,821 - 101,477,072UniSTS
REN36246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,869,640 - 131,869,864UniSTSGRCh37
Build 369130,909,461 - 130,909,685RGDNCBI36
Celera9102,521,929 - 102,522,153RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,476,605 - 101,476,829UniSTS
REN36247  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,868,847 - 131,869,104UniSTSGRCh37
Build 369130,908,668 - 130,908,925RGDNCBI36
Celera9102,521,136 - 102,521,393RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,475,812 - 101,476,069UniSTS
REN36248  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,868,602 - 131,868,855UniSTSGRCh37
Build 369130,908,423 - 130,908,676RGDNCBI36
Celera9102,520,891 - 102,521,144RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,475,567 - 101,475,820UniSTS
REN36249  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,868,354 - 131,868,614UniSTSGRCh37
Build 369130,908,175 - 130,908,435RGDNCBI36
Celera9102,520,643 - 102,520,903RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,475,319 - 101,475,579UniSTS
REN36250  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,868,110 - 131,868,374UniSTSGRCh37
Build 369130,907,931 - 130,908,195RGDNCBI36
Celera9102,520,399 - 102,520,663RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,475,075 - 101,475,339UniSTS
REN36251  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,867,892 - 131,868,130UniSTSGRCh37
Build 369130,907,713 - 130,907,951RGDNCBI36
Celera9102,520,181 - 102,520,419RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,474,857 - 101,475,095UniSTS
REN36252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,867,646 - 131,867,915UniSTSGRCh37
Build 369130,907,467 - 130,907,736RGDNCBI36
Celera9102,519,935 - 102,520,204RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,474,611 - 101,474,880UniSTS
REN36253  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,866,547 - 131,866,790UniSTSGRCh37
Build 369130,906,368 - 130,906,611RGDNCBI36
Celera9102,518,837 - 102,519,080RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,473,512 - 101,473,755UniSTS
REN36254  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,866,318 - 131,866,566UniSTSGRCh37
Build 369130,906,139 - 130,906,387RGDNCBI36
Celera9102,518,608 - 102,518,856RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,473,283 - 101,473,531UniSTS
REN36255  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,866,082 - 131,866,316UniSTSGRCh37
Build 369130,905,903 - 130,906,137RGDNCBI36
Celera9102,518,372 - 102,518,606RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,473,047 - 101,473,281UniSTS
REN36256  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,865,865 - 131,866,104UniSTSGRCh37
Build 369130,905,686 - 130,905,925RGDNCBI36
Celera9102,518,155 - 102,518,394RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,472,830 - 101,473,069UniSTS
REN36257  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,865,615 - 131,865,855UniSTSGRCh37
Build 369130,905,436 - 130,905,676RGDNCBI36
Celera9102,517,905 - 102,518,145RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,472,580 - 101,472,820UniSTS
REN36258  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,865,366 - 131,865,637UniSTSGRCh37
Build 369130,905,187 - 130,905,458RGDNCBI36
Celera9102,517,656 - 102,517,927RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,472,331 - 101,472,602UniSTS
REN36259  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,865,123 - 131,865,380UniSTSGRCh37
Build 369130,904,944 - 130,905,201RGDNCBI36
Celera9102,517,413 - 102,517,670RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,472,088 - 101,472,345UniSTS
REN36260  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,864,910 - 131,865,142UniSTSGRCh37
Build 369130,904,731 - 130,904,963RGDNCBI36
Celera9102,517,200 - 102,517,432RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,471,875 - 101,472,107UniSTS
REN36261  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,864,682 - 131,864,911UniSTSGRCh37
Build 369130,904,503 - 130,904,732RGDNCBI36
Celera9102,516,972 - 102,517,201RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,471,647 - 101,471,876UniSTS
REN36262  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,864,445 - 131,864,669UniSTSGRCh37
Build 369130,904,266 - 130,904,490RGDNCBI36
Celera9102,516,735 - 102,516,959RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,471,410 - 101,471,634UniSTS
REN36263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,864,161 - 131,864,385UniSTSGRCh37
Build 369130,903,982 - 130,904,206RGDNCBI36
Celera9102,516,451 - 102,516,675RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,471,126 - 101,471,350UniSTS
REN36264  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,863,946 - 131,864,185UniSTSGRCh37
Build 369130,903,767 - 130,904,006RGDNCBI36
Celera9102,516,236 - 102,516,475RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,470,911 - 101,471,150UniSTS
REN36265  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,863,696 - 131,863,928UniSTSGRCh37
GRCh37628,575,820 - 28,576,041UniSTSGRCh37
Build 36628,683,799 - 28,684,020RGDNCBI36
Celera630,182,215 - 30,182,436RGD
Celera9102,515,986 - 102,516,218UniSTS
Cytogenetic Map9q34.1UniSTS
HuRef9101,470,661 - 101,470,893UniSTS
HuRef628,381,839 - 28,382,060UniSTS
REN36266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,863,444 - 131,863,682UniSTSGRCh37
Build 369130,903,265 - 130,903,503RGDNCBI36
Celera9102,515,734 - 102,515,972RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,470,409 - 101,470,647UniSTS
REN36267  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,863,218 - 131,863,460UniSTSGRCh37
Build 369130,903,039 - 130,903,281RGDNCBI36
Celera9102,515,508 - 102,515,750RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,470,183 - 101,470,425UniSTS
REN36268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,863,005 - 131,863,240UniSTSGRCh37
Build 369130,902,826 - 130,903,061RGDNCBI36
Celera9102,515,295 - 102,515,530RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,469,970 - 101,470,205UniSTS
REN36269  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,862,785 - 131,863,026UniSTSGRCh37
Build 369130,902,606 - 130,902,847RGDNCBI36
Celera9102,515,075 - 102,515,316RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,469,750 - 101,469,991UniSTS
REN36270  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,862,547 - 131,862,804UniSTSGRCh37
Build 369130,902,368 - 130,902,625RGDNCBI36
Celera9102,514,839 - 102,515,094RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,469,514 - 101,469,769UniSTS
REN36271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,862,331 - 131,862,569UniSTSGRCh37
Build 369130,902,152 - 130,902,390RGDNCBI36
Celera9102,514,623 - 102,514,861RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,469,298 - 101,469,536UniSTS
REN36272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,862,071 - 131,862,320UniSTSGRCh37
Build 369130,901,892 - 130,902,141RGDNCBI36
Celera9102,514,363 - 102,514,612RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,469,038 - 101,469,287UniSTS
REN36273  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,861,844 - 131,862,072UniSTSGRCh37
Build 369130,901,665 - 130,901,893RGDNCBI36
Celera9102,514,137 - 102,514,364RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,468,811 - 101,469,039UniSTS
REN36274  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,861,051 - 131,861,322UniSTSGRCh37
Build 369130,900,872 - 130,901,143RGDNCBI36
Celera9102,513,348 - 102,513,617RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,468,022 - 101,468,291UniSTS
REN36275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,860,662 - 131,860,920UniSTSGRCh37
Build 369130,900,483 - 130,900,741RGDNCBI36
Celera9102,512,959 - 102,513,217RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,467,633 - 101,467,891UniSTS
REN36276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,860,420 - 131,860,682UniSTSGRCh37
Build 369130,900,241 - 130,900,503RGDNCBI36
Celera9102,512,717 - 102,512,979RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,467,391 - 101,467,653UniSTS
REN36277  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,860,212 - 131,860,439UniSTSGRCh37
Build 369130,900,033 - 130,900,260RGDNCBI36
Celera9102,512,509 - 102,512,736RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,467,183 - 101,467,410UniSTS
REN36278  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,860,011 - 131,860,235UniSTSGRCh37
Build 369130,899,832 - 130,900,056RGDNCBI36
Celera9102,512,308 - 102,512,532RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,466,982 - 101,467,206UniSTS
REN36279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,859,391 - 131,859,616UniSTSGRCh37
Build 369130,899,212 - 130,899,437RGDNCBI36
Celera9102,511,688 - 102,511,913RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,466,361 - 101,466,586UniSTS
REN36280  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,858,816 - 131,859,059UniSTSGRCh37
Build 369130,898,637 - 130,898,880RGDNCBI36
Celera9102,511,113 - 102,511,356RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,465,786 - 101,466,029UniSTS
REN36281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,858,616 - 131,858,840UniSTSGRCh37
Build 369130,898,437 - 130,898,661RGDNCBI36
Celera9102,510,913 - 102,511,137RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,465,586 - 101,465,810UniSTS
REN36282  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,858,414 - 131,858,638UniSTSGRCh37
Build 369130,898,235 - 130,898,459RGDNCBI36
Celera9102,510,711 - 102,510,935RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,465,384 - 101,465,608UniSTS
REN36283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,858,203 - 131,858,431UniSTSGRCh37
Build 369130,898,024 - 130,898,252RGDNCBI36
Celera9102,510,500 - 102,510,728RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,465,173 - 101,465,401UniSTS
REN36284  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,857,913 - 131,858,181UniSTSGRCh37
Build 369130,897,734 - 130,898,002RGDNCBI36
Celera9102,510,210 - 102,510,478RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,464,883 - 101,465,151UniSTS
REN36285  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,857,667 - 131,857,934UniSTSGRCh37
Build 369130,897,488 - 130,897,755RGDNCBI36
Celera9102,509,964 - 102,510,231RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,464,637 - 101,464,904UniSTS
REN36286  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,857,430 - 131,857,685UniSTSGRCh37
Build 369130,897,251 - 130,897,506RGDNCBI36
Celera9102,509,727 - 102,509,982RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,464,400 - 101,464,655UniSTS
REN36287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,857,176 - 131,857,450UniSTSGRCh37
Build 369130,896,997 - 130,897,271RGDNCBI36
Celera9102,509,473 - 102,509,747RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,464,146 - 101,464,420UniSTS
REN36288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,856,976 - 131,857,200UniSTSGRCh37
Build 369130,896,797 - 130,897,021RGDNCBI36
Celera9102,509,273 - 102,509,497RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,463,946 - 101,464,170UniSTS
REN36289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,856,758 - 131,856,999UniSTSGRCh37
Build 369130,896,579 - 130,896,820RGDNCBI36
Celera9102,509,055 - 102,509,296RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,463,728 - 101,463,969UniSTS
Bda93f06  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,857,113 - 131,857,258UniSTSGRCh37
Build 369130,896,934 - 130,897,079RGDNCBI36
Celera9102,509,410 - 102,509,555RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,464,083 - 101,464,228UniSTS
GeneMap99-GB4 RH Map9392.66UniSTS
stSG628190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,857,208 - 131,858,303UniSTSGRCh37
Build 369130,897,029 - 130,898,124RGDNCBI36
Celera9102,509,505 - 102,510,600RGD
Cytogenetic Map9q34.1UniSTS
HuRef9101,464,178 - 101,465,273UniSTS
stSG628191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,858,284 - 131,859,595UniSTSGRCh37
Build 369130,898,105 - 130,899,416RGDNCBI36
Celera9102,510,581 - 102,511,892RGD
HuRef9101,465,254 - 101,466,565UniSTS
stSG628192  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,859,607 - 131,861,055UniSTSGRCh37
Build 369130,899,428 - 130,900,876RGDNCBI36
Celera9102,511,904 - 102,513,352RGD
HuRef9101,466,577 - 101,468,026UniSTS
stSG628193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,861,036 - 131,862,353UniSTSGRCh37
Build 369130,900,857 - 130,902,174RGDNCBI36
Celera9102,513,333 - 102,514,645RGD
HuRef9101,468,007 - 101,469,320UniSTS
stSG628194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,862,339 - 131,863,404UniSTSGRCh37
Build 369130,902,160 - 130,903,225RGDNCBI36
Celera9102,514,631 - 102,515,694RGD
HuRef9101,469,306 - 101,470,369UniSTS
stSG628195  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,863,386 - 131,864,731UniSTSGRCh37
Build 369130,903,207 - 130,904,552RGDNCBI36
Celera9102,515,676 - 102,517,021RGD
HuRef9101,470,351 - 101,471,696UniSTS
stSG628196  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,864,720 - 131,865,729UniSTSGRCh37
Build 369130,904,541 - 130,905,550RGDNCBI36
Celera9102,517,010 - 102,518,019RGD
HuRef9101,471,685 - 101,472,694UniSTS
stSG628197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,865,710 - 131,866,729UniSTSGRCh37
Build 369130,905,531 - 130,906,550RGDNCBI36
Celera9102,518,000 - 102,519,019RGD
HuRef9101,472,675 - 101,473,694UniSTS
stSG628198  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,866,710 - 131,868,115UniSTSGRCh37
Build 369130,906,531 - 130,907,936RGDNCBI36
Celera9102,519,000 - 102,520,404RGD
HuRef9101,473,675 - 101,475,080UniSTS
stSG628199  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,868,098 - 131,869,214UniSTSGRCh37
Build 369130,907,919 - 130,909,035RGDNCBI36
Celera9102,520,387 - 102,521,503RGD
HuRef9101,475,063 - 101,476,179UniSTS
stSG628200  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,869,199 - 131,870,617UniSTSGRCh37
Build 369130,909,020 - 130,910,438RGDNCBI36
Celera9102,521,488 - 102,522,906RGD
HuRef9101,476,164 - 101,477,582UniSTS
stSG628201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,870,598 - 131,871,853UniSTSGRCh37
Build 369130,910,419 - 130,911,674RGDNCBI36
Celera9102,522,887 - 102,524,142RGD
HuRef9101,477,563 - 101,478,818UniSTS
CRAT_4187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379131,857,056 - 131,857,880UniSTSGRCh37
Build 369130,896,877 - 130,897,701RGDNCBI36
Celera9102,509,353 - 102,510,177RGD
HuRef9101,464,026 - 101,464,850UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 2413 2407 1685 618 970 461 4168 2119 3522 409 1398 1565 163 1204 2711 4
Low 20 577 38 4 937 3 185 74 190 10 43 41 6 77
Below cutoff 2 1 36 2 6 9 3 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_000755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001257363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK313931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL158151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL523652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG741603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG741927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI460020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI752361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM553197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ068230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB043845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB243402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF125676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY328978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X78706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X79824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X79825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X79826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000318080   ⟹   ENSP00000315013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,094,794 - 129,110,793 (-)Ensembl
RefSeq Acc Id: ENST00000393384   ⟹   ENSP00000377045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,107,334 - 129,110,711 (-)Ensembl
RefSeq Acc Id: ENST00000415948   ⟹   ENSP00000394420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,102,442 - 129,110,710 (-)Ensembl
RefSeq Acc Id: ENST00000441796   ⟹   ENSP00000404405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,104,197 - 129,110,769 (-)Ensembl
RefSeq Acc Id: ENST00000455396   ⟹   ENSP00000395458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,094,806 - 129,110,681 (-)Ensembl
RefSeq Acc Id: ENST00000455830   ⟹   ENSP00000390571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,107,814 - 129,110,672 (-)Ensembl
RefSeq Acc Id: ENST00000458362   ⟹   ENSP00000400367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,095,397 - 129,110,782 (-)Ensembl
RefSeq Acc Id: ENST00000464290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,101,907 - 129,111,189 (-)Ensembl
RefSeq Acc Id: ENST00000467343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,095,456 - 129,098,036 (-)Ensembl
RefSeq Acc Id: ENST00000679520   ⟹   ENSP00000505259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,094,806 - 129,110,710 (-)Ensembl
RefSeq Acc Id: ENST00000679716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,094,806 - 129,108,458 (-)Ensembl
RefSeq Acc Id: ENST00000680093   ⟹   ENSP00000506286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,094,806 - 129,110,751 (-)Ensembl
RefSeq Acc Id: ENST00000680117   ⟹   ENSP00000505542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,094,826 - 129,110,791 (-)Ensembl
RefSeq Acc Id: ENST00000680523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,094,142 - 129,110,791 (-)Ensembl
RefSeq Acc Id: ENST00000681040   ⟹   ENSP00000506678
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,094,811 - 129,110,782 (-)Ensembl
RefSeq Acc Id: ENST00000681118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,094,806 - 129,110,683 (-)Ensembl
RefSeq Acc Id: ENST00000681325   ⟹   ENSP00000506574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,094,806 - 129,110,791 (-)Ensembl
RefSeq Acc Id: ENST00000681622   ⟹   ENSP00000505897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,094,806 - 129,110,747 (-)Ensembl
RefSeq Acc Id: ENST00000681627   ⟹   ENSP00000506267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,094,811 - 129,110,737 (-)Ensembl
RefSeq Acc Id: ENST00000681689   ⟹   ENSP00000505435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,094,806 - 129,110,545 (-)Ensembl
RefSeq Acc Id: ENST00000681725   ⟹   ENSP00000505817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,095,838 - 129,110,791 (-)Ensembl
RefSeq Acc Id: ENST00000681911   ⟹   ENSP00000506533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9129,094,806 - 129,110,710 (-)Ensembl
RefSeq Acc Id: NM_000755   ⟹   NP_000746
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389129,094,794 - 129,110,793 (-)NCBI
GRCh379131,857,073 - 131,873,070 (-)ENTREZGENE
Build 369130,896,894 - 130,912,904 (-)NCBI Archive
HuRef9101,464,043 - 101,480,035 (-)ENTREZGENE
CHM1_19132,007,896 - 132,023,887 (-)NCBI
T2T-CHM13v2.09141,298,255 - 141,314,238 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001257363   ⟹   NP_001244292
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389129,094,794 - 129,110,793 (-)NCBI
HuRef9101,464,043 - 101,480,035 (-)NCBI
CHM1_19132,007,896 - 132,023,887 (-)NCBI
T2T-CHM13v2.09141,298,255 - 141,314,238 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001346546   ⟹   NP_001333475
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389129,094,794 - 129,110,793 (-)NCBI
T2T-CHM13v2.09141,298,255 - 141,314,238 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001346547   ⟹   NP_001333476
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389129,094,794 - 129,110,793 (-)NCBI
T2T-CHM13v2.09141,298,255 - 141,314,238 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001346548   ⟹   NP_001333477
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389129,094,794 - 129,110,793 (-)NCBI
T2T-CHM13v2.09141,298,255 - 141,314,238 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001346549   ⟹   NP_001333478
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389129,094,794 - 129,110,793 (-)NCBI
T2T-CHM13v2.09141,298,255 - 141,314,238 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004003   ⟹   NP_003994
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389129,094,794 - 129,110,793 (-)NCBI
Build 369130,896,894 - 130,911,116 (-)NCBI Archive
T2T-CHM13v2.09141,298,255 - 141,314,238 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251708   ⟹   XP_005251765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389129,094,794 - 129,110,793 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017014275   ⟹   XP_016869764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389129,094,794 - 129,108,985 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047422770   ⟹   XP_047278726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389129,094,794 - 129,110,793 (-)NCBI
RefSeq Acc Id: XM_047422771   ⟹   XP_047278727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389129,094,794 - 129,110,793 (-)NCBI
RefSeq Acc Id: XM_047422772   ⟹   XP_047278728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389129,094,794 - 129,108,985 (-)NCBI
RefSeq Acc Id: XM_054361982   ⟹   XP_054217957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09141,298,255 - 141,312,356 (-)NCBI
RefSeq Acc Id: XM_054361983   ⟹   XP_054217958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09141,298,255 - 141,314,668 (-)NCBI
RefSeq Acc Id: XM_054361984   ⟹   XP_054217959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09141,298,255 - 141,314,238 (-)NCBI
RefSeq Acc Id: XM_054361985   ⟹   XP_054217960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09141,298,255 - 141,314,238 (-)NCBI
RefSeq Acc Id: XM_054361986   ⟹   XP_054217961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09141,298,255 - 141,314,238 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000746 (Get FASTA)   NCBI Sequence Viewer  
  NP_001244292 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333475 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333476 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333477 (Get FASTA)   NCBI Sequence Viewer  
  NP_001333478 (Get FASTA)   NCBI Sequence Viewer  
  NP_003994 (Get FASTA)   NCBI Sequence Viewer  
  XP_005251765 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869764 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278726 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278727 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278728 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217957 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217958 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217959 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217960 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217961 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH00723 (Get FASTA)   NCBI Sequence Viewer  
  AAP35447 (Get FASTA)   NCBI Sequence Viewer  
  CAA55359 (Get FASTA)   NCBI Sequence Viewer  
  EAW87873 (Get FASTA)   NCBI Sequence Viewer  
  EAW87874 (Get FASTA)   NCBI Sequence Viewer  
  EAW87875 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000315013
  ENSP00000315013.2
  ENSP00000377045.3
  ENSP00000390571.2
  ENSP00000394420.2
  ENSP00000395458
  ENSP00000395458.2
  ENSP00000400367.1
  ENSP00000404405.1
  ENSP00000505259.1
  ENSP00000505435.1
  ENSP00000505542.1
  ENSP00000505817.1
  ENSP00000505897.1
  ENSP00000506267
  ENSP00000506267.1
  ENSP00000506286.1
  ENSP00000506533.1
  ENSP00000506574.1
  ENSP00000506678.1
GenBank Protein P43155 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_000746   ⟸   NM_000755
- Peptide Label: isoform 1
- UniProtKB: Q5T952 (UniProtKB/Swiss-Prot),   P43155 (UniProtKB/Swiss-Prot),   Q9BW16 (UniProtKB/Swiss-Prot),   A0A7P0TBF3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003994   ⟸   NM_004003
- Peptide Label: isoform 2
- UniProtKB: A0A7P0TBF3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001244292   ⟸   NM_001257363
- Peptide Label: isoform 2
- UniProtKB: A0A7P0TBF3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005251765   ⟸   XM_005251708
- Peptide Label: isoform X3
- UniProtKB: A0A7P0TBF3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869764   ⟸   XM_017014275
- Peptide Label: isoform X1
- UniProtKB: A0A7P0TBF3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001333478   ⟸   NM_001346549
- Peptide Label: isoform 6
- UniProtKB: H0Y4Z7 (UniProtKB/TrEMBL),   A0A7P0TBF3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001333476   ⟸   NM_001346547
- Peptide Label: isoform 4
- UniProtKB: A0A7P0TAR1 (UniProtKB/TrEMBL),   A0A7P0TBF3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001333477   ⟸   NM_001346548
- Peptide Label: isoform 5
- UniProtKB: A0A7P0TBF3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001333475   ⟸   NM_001346546
- Peptide Label: isoform 3
- UniProtKB: A0A7P0TBF3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000394420   ⟸   ENST00000415948
RefSeq Acc Id: ENSP00000395458   ⟸   ENST00000455396
RefSeq Acc Id: ENSP00000404405   ⟸   ENST00000441796
RefSeq Acc Id: ENSP00000390571   ⟸   ENST00000455830
RefSeq Acc Id: ENSP00000400367   ⟸   ENST00000458362
RefSeq Acc Id: ENSP00000377045   ⟸   ENST00000393384
RefSeq Acc Id: ENSP00000315013   ⟸   ENST00000318080
RefSeq Acc Id: ENSP00000506286   ⟸   ENST00000680093
RefSeq Acc Id: ENSP00000505259   ⟸   ENST00000679520
RefSeq Acc Id: ENSP00000506678   ⟸   ENST00000681040
RefSeq Acc Id: ENSP00000506267   ⟸   ENST00000681627
RefSeq Acc Id: ENSP00000506533   ⟸   ENST00000681911
RefSeq Acc Id: ENSP00000505435   ⟸   ENST00000681689
RefSeq Acc Id: ENSP00000505542   ⟸   ENST00000680117
RefSeq Acc Id: ENSP00000506574   ⟸   ENST00000681325
RefSeq Acc Id: ENSP00000505817   ⟸   ENST00000681725
RefSeq Acc Id: ENSP00000505897   ⟸   ENST00000681622
RefSeq Acc Id: XP_047278727   ⟸   XM_047422771
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047278726   ⟸   XM_047422770
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047278728   ⟸   XM_047422772
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054217958   ⟸   XM_054361983
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054217960   ⟸   XM_054361985
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054217961   ⟸   XM_054361986
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054217959   ⟸   XM_054361984
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054217957   ⟸   XM_054361982
- Peptide Label: isoform X1
Protein Domains
Choline/carnitine acyltransferase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P43155-F1-model_v2 AlphaFold P43155 1-626 view protein structure

Promoters
RGD ID:7216357
Promoter ID:EPDNEW_H13924
Type:initiation region
Name:CRAT_1
Description:carnitine O-acetyltransferase
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
GRCh389129,110,782 - 129,110,842EPDNEW
RGD ID:6813602
Promoter ID:HG_ACW:82599
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:CRAT.JAPR07-UNSPLICED
Position:
Human AssemblyChrPosition (strand)Source
Build 369130,902,256 - 130,902,756 (-)MPROMDB
RGD ID:6807406
Promoter ID:HG_KWN:65226
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000351352,   ENST00000393384,   OTTHUMT00000253703,   OTTHUMT00000253705,   OTTHUMT00000336523,   UC004BXH.1,   UC004BXK.2
Position:
Human AssemblyChrPosition (strand)Source
Build 369130,913,171 - 130,914,127 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2342 AgrOrtholog
COSMIC CRAT COSMIC
Ensembl Genes ENSG00000095321 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000318080 ENTREZGENE
  ENST00000318080.7 UniProtKB/Swiss-Prot
  ENST00000393384.3 UniProtKB/TrEMBL
  ENST00000415948.6 UniProtKB/TrEMBL
  ENST00000441796.1 UniProtKB/TrEMBL
  ENST00000455396 ENTREZGENE
  ENST00000455396.2 UniProtKB/TrEMBL
  ENST00000455830.2 UniProtKB/TrEMBL
  ENST00000458362.5 UniProtKB/TrEMBL
  ENST00000679520.1 UniProtKB/TrEMBL
  ENST00000680093.1 UniProtKB/TrEMBL
  ENST00000680117.1 UniProtKB/TrEMBL
  ENST00000681040.1 UniProtKB/TrEMBL
  ENST00000681325.1 UniProtKB/TrEMBL
  ENST00000681622.1 UniProtKB/TrEMBL
  ENST00000681627 ENTREZGENE
  ENST00000681627.1 UniProtKB/TrEMBL
  ENST00000681689.1 UniProtKB/TrEMBL
  ENST00000681725.1 UniProtKB/TrEMBL
  ENST00000681911.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.275.20 UniProtKB/TrEMBL
  3.30.559.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.559.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000095321 GTEx
HGNC ID HGNC:2342 ENTREZGENE
Human Proteome Map CRAT Human Proteome Map
InterPro Carn_acyl_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Carn_acyl_trans_N UniProtKB/TrEMBL
  CAT-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cho/carn_acyl_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cho/carn_acyl_trans_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1384 ENTREZGENE
OMIM 600184 OMIM
PANTHER CARNITINE O-ACETYLTRANSFERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR22589 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Carn_acyltransf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26862 PharmGKB
PROSITE ACYLTRANSF_C_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACYLTRANSF_C_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP CoA-dependent acyltransferases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7P0T9E7_HUMAN UniProtKB/TrEMBL
  A0A7P0T9R9_HUMAN UniProtKB/TrEMBL
  A0A7P0TAQ4_HUMAN UniProtKB/TrEMBL
  A0A7P0TAR1 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0TBF3 ENTREZGENE, UniProtKB/TrEMBL
  A6PVN3_HUMAN UniProtKB/TrEMBL
  B7ZBP5_HUMAN UniProtKB/TrEMBL
  CACP_HUMAN UniProtKB/Swiss-Prot
  F2Z2C5_HUMAN UniProtKB/TrEMBL
  H0Y4Z7 ENTREZGENE, UniProtKB/TrEMBL
  P43155 ENTREZGENE
  Q5T952 ENTREZGENE
  Q9BW16 ENTREZGENE
UniProt Secondary H7C0E1 UniProtKB/TrEMBL
  Q5T952 UniProtKB/Swiss-Prot
  Q9BW16 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-04-10 CRAT  carnitine O-acetyltransferase  CRAT  carnitine O-acetyltransferase  Symbol and/or name change 5135510 APPROVED
2011-07-27 CRAT  carnitine O-acetyltransferase  CRAT  carnitine acetyltransferase  Symbol and/or name change 5135510 APPROVED