SLC25A24 (solute carrier family 25 member 24) - Rat Genome Database

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Gene: SLC25A24 (solute carrier family 25 member 24) Homo sapiens
Analyze
Symbol: SLC25A24
Name: solute carrier family 25 member 24
RGD ID: 1607032
HGNC Page HGNC:20662
Description: Enables ADP:phosphate antiporter activity; ATP:phosphate antiporter activity; and calcium ion binding activity. Involved in cellular response to calcium ion; cellular response to oxidative stress; and mitochondrial ATP transmembrane transport. Located in membrane and mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: APC1; ATP-Mg/P(i) co-transporter 1; calcium-binding mitochondrial carrier protein SCaMC-1; calcium-binding transporter; DKFZp586G0123; mitochondrial adenyl nucleotide antiporter SLC25A24; mitochondrial ATP-Mg/Pi carrier protein 1; mitochondrial ATP-Mg/Pi transporter; mitochondrial Ca(2+)-dependent solute carrier protein 1; SCAMC-1; SCAMC1; short calcium-binding mitochondrial carrier 1; short calcium-binding mitochondrial carrier protein 1; small calcium-binding mitochondrial carrier protein 1; solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 24
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: SLC25A24P1   SLC25A24P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381108,134,043 - 108,200,343 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1108,134,043 - 108,200,849 (-)EnsemblGRCh38hg38GRCh38
GRCh371108,676,665 - 108,742,965 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361108,478,968 - 108,544,497 (-)NCBINCBI36Build 36hg18NCBI36
Celera1106,852,157 - 106,917,679 (-)NCBICelera
Cytogenetic Map1p13.3NCBI
HuRef1106,622,931 - 106,688,475 (-)NCBIHuRef
CHM1_11108,792,122 - 108,857,831 (-)NCBICHM1_1
T2T-CHM13v2.01108,171,581 - 108,233,988 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (ISO)
amitrole  (ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
CGP 52608  (EXP)
choline  (ISO)
cisplatin  (EXP,ISO)
clozapine  (EXP)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
endosulfan  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
furfural  (EXP)
gentamycin  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
hydrogen peroxide  (EXP)
ivermectin  (EXP)
L-methionine  (ISO)
methoxychlor  (ISO)
N-nitrosodimethylamine  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorooctanoic acid  (EXP)
pioglitazone  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
SB 431542  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium chloride  (EXP)
sodium dodecyl sulfate  (EXP)
sulfadimethoxine  (ISO)
sulfasalazine  (ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
theophylline  (EXP)
thioacetamide  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
Triptolide  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IDA,IEA)
mitochondrial inner membrane  (IEA)
mitochondrion  (HTP,IDA,IEA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal dermatoglyphics  (IAGP)
Abnormal eyelid morphology  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal hair morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal metacarpal morphology  (IAGP)
Abnormal nail morphology  (IAGP)
Abnormal skull morphology  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of vision  (IAGP)
Absent distal phalanges  (IAGP)
Absent nipple  (IAGP)
Anonychia  (IAGP)
Anteriorly placed anus  (IAGP)
Aortic aneurysm  (IAGP)
Aplasia/Hypoplasia of the nasal bone  (IAGP)
Aplastic/hypoplastic lacrimal glands  (IAGP)
Astigmatism  (IAGP)
Atrial septal defect  (IAGP)
Autism  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Brachycephaly  (IAGP)
Brittle hair  (IAGP)
Broad forehead  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Coarse hair  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital craniofacial dysostosis  (IAGP)
Congenital onset  (IAGP)
Convex nasal ridge  (IAGP)
Coronal craniosynostosis  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cutis laxa  (IAGP)
Death in infancy  (IAGP)
Decreased skull ossification  (IAGP)
Deep palmar crease  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Dermal translucency  (IAGP)
Downslanted palpebral fissures  (IAGP)
Epicanthus  (IAGP)
Everted lower lip vermilion  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hirsutism  (IAGP)
Generalized hypotonia  (IAGP)
Gray matter heterotopia  (IAGP)
High, narrow palate  (IAGP)
Hydrocephalus  (IAGP)
Hypermetropia  (IAGP)
Hypertelorism  (IAGP)
Hypertrichosis  (IAGP)
Hypoplasia of the abdominal wall musculature  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypoplastic labia majora  (IAGP)
Hypoplastic nipples  (IAGP)
Intellectual disability, mild  (IAGP)
Intrauterine growth retardation  (IAGP)
Left ventricular hypertrophy  (IAGP)
Lipoatrophy  (IAGP)
Long eyelashes in irregular rows  (IAGP)
Long philtrum  (IAGP)
Low anterior hairline  (IAGP)
Low posterior hairline  (IAGP)
Low-set ears  (IAGP)
Mandibular prognathia  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Midface retrusion  (IAGP)
Muscle weakness  (IAGP)
Narrow mouth  (IAGP)
Neonatal death  (IAGP)
Nystagmus  (IAGP)
Oligodontia  (IAGP)
Oligohydramnios  (IAGP)
Patent ductus arteriosus  (IAGP)
Periventricular heterotopia  (IAGP)
Platyspondyly  (IAGP)
Pneumothorax  (IAGP)
Posteriorly rotated ears  (IAGP)
Premature skin wrinkling  (IAGP)
Prematurely aged appearance  (IAGP)
Prominent superficial veins  (IAGP)
Proptosis  (IAGP)
Protruding tongue  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary hypoplasia  (IAGP)
Recurrent aspiration pneumonia  (IAGP)
Reduced subcutaneous adipose tissue  (IAGP)
Redundant skin  (IAGP)
Respiratory insufficiency  (IAGP)
Retrognathia  (IAGP)
Sclerocornea  (IAGP)
Scoliosis  (IAGP)
Shagreen patch  (IAGP)
Short distal phalanx of finger  (IAGP)
Short nose  (IAGP)
Short palpebral fissure  (IAGP)
Short stature  (IAGP)
Small for gestational age  (IAGP)
Small nail  (IAGP)
Small scrotum  (IAGP)
Smooth philtrum  (IAGP)
Sparse hair  (IAGP)
Sparse scalp hair  (IAGP)
Strabismus  (IAGP)
Syndactyly  (IAGP)
Synophrys  (IAGP)
Thick eyebrow  (IAGP)
Thin upper lip vermilion  (IAGP)
Tooth agenesis  (IAGP)
Triangular face  (IAGP)
Tricuspid regurgitation  (IAGP)
Turricephaly  (IAGP)
Umbilical hernia  (IAGP)
Underdeveloped supraorbital ridges  (IAGP)
Upper eyelid coloboma  (IAGP)
Wide anterior fontanel  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11230166   PMID:11827452   PMID:12477932   PMID:15054102   PMID:15123600   PMID:18029348   PMID:20379614   PMID:20877624   PMID:21873635   PMID:22015608   PMID:22268729   PMID:22939629  
PMID:23266187   PMID:24244333   PMID:24332718   PMID:25017104   PMID:25599384   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26618866   PMID:26972000   PMID:27342126   PMID:27499296  
PMID:28514442   PMID:28712724   PMID:29100093   PMID:29100094   PMID:29331416   PMID:29507755   PMID:29509190   PMID:29509794   PMID:30021884   PMID:30575818   PMID:30948266   PMID:31091453  
PMID:31527615   PMID:31536960   PMID:31617661   PMID:31686588   PMID:31985874   PMID:31995728   PMID:32041737   PMID:32203420   PMID:32457219   PMID:32513696   PMID:32877691   PMID:33087821  
PMID:33567341   PMID:33961781   PMID:34079125   PMID:34349018   PMID:34561420   PMID:34709727   PMID:34800366   PMID:35241150   PMID:35253629   PMID:35439318   PMID:35509820   PMID:35545034  
PMID:35679445   PMID:35906200   PMID:36168628   PMID:36225252   PMID:36526897   PMID:36590901   PMID:36724073   PMID:36880596   PMID:37071682   PMID:37223481   PMID:37616343   PMID:37827155  
PMID:38697112   PMID:38980211  


Genomics

Comparative Map Data
SLC25A24
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381108,134,043 - 108,200,343 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1108,134,043 - 108,200,849 (-)EnsemblGRCh38hg38GRCh38
GRCh371108,676,665 - 108,742,965 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361108,478,968 - 108,544,497 (-)NCBINCBI36Build 36hg18NCBI36
Celera1106,852,157 - 106,917,679 (-)NCBICelera
Cytogenetic Map1p13.3NCBI
HuRef1106,622,931 - 106,688,475 (-)NCBIHuRef
CHM1_11108,792,122 - 108,857,831 (-)NCBICHM1_1
T2T-CHM13v2.01108,171,581 - 108,233,988 (-)NCBIT2T-CHM13v2.0
Slc25a24
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393109,030,465 - 109,075,725 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3109,030,465 - 109,075,773 (+)EnsemblGRCm39 Ensembl
GRCm383109,123,149 - 109,168,409 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3109,123,149 - 109,168,457 (+)EnsemblGRCm38mm10GRCm38
MGSCv373108,926,067 - 108,971,327 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363109,251,205 - 109,296,465 (+)NCBIMGSCv36mm8
Celera3111,461,243 - 111,503,231 (+)NCBICelera
Cytogenetic Map3F3NCBI
cM Map348.13NCBI
Slc25a24
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82199,449,425 - 199,487,287 (+)NCBIGRCr8
mRatBN7.22196,761,076 - 196,799,236 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2196,761,274 - 196,799,231 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2204,410,850 - 204,449,462 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02202,293,245 - 202,331,158 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02197,110,318 - 197,148,230 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02211,930,371 - 211,967,511 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2211,930,326 - 211,967,505 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02231,401,404 - 231,438,472 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42204,721,524 - 204,760,766 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12204,633,416 - 204,721,846 (+)NCBI
Celera2189,410,120 - 189,446,854 (+)NCBICelera
Cytogenetic Map2q41NCBI
Slc25a24
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543511,895,405 - 11,933,153 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543511,895,475 - 11,933,153 (-)NCBIChiLan1.0ChiLan1.0
LOC100990756
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21118,942,780 - 119,009,026 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11118,106,687 - 118,172,373 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01110,672,168 - 110,736,204 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11109,786,563 - 109,850,397 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1109,786,563 - 109,850,397 (-)Ensemblpanpan1.1panPan2
SLC25A24
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1643,424,079 - 43,476,861 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha646,210,128 - 46,258,231 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0643,702,936 - 43,751,242 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl643,629,062 - 43,751,221 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1643,437,348 - 43,485,546 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0643,407,742 - 43,455,905 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0643,837,016 - 43,885,217 (+)NCBIUU_Cfam_GSD_1.0
Slc25a24
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405058117,354,096 - 117,404,929 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936731173,337 - 224,239 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936731173,366 - 224,156 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC25A24
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4111,579,663 - 111,634,266 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14111,580,186 - 111,632,390 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24122,094,478 - 122,127,835 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Slc25a24
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247724,278,655 - 4,324,510 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247724,280,055 - 4,324,403 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC25A24
124 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1 copy number loss See cases [RCV000053879] Chr1:101618097..111703028 [GRCh38]
Chr1:102083653..112245650 [GRCh37]
Chr1:101856241..112047173 [NCBI36]
Chr1:1p21.2-13.2		 pathogenic
GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1 copy number loss See cases [RCV000053881] Chr1:106074587..110144290 [GRCh38]
Chr1:106617209..110686912 [GRCh37]
Chr1:106418732..110488435 [NCBI36]
Chr1:1p21.1-13.3		 pathogenic
GRCh38/hg38 1p21.3-13.3(chr1:97410602-110670510)x1 copy number loss See cases [RCV000053877] Chr1:97410602..110670510 [GRCh38]
Chr1:97876158..111213132 [GRCh37]
Chr1:97648746..111014655 [NCBI36]
Chr1:1p21.3-13.3		 pathogenic
GRCh38/hg38 1p13.3(chr1:107395369-108383738)x3 copy number gain See cases [RCV000134068] Chr1:107395369..108383738 [GRCh38]
Chr1:107937991..108926360 [GRCh37]
Chr1:107739514..108727883 [NCBI36]
Chr1:1p13.3		 uncertain significance
GRCh38/hg38 1p21.3-13.3(chr1:97272349-108893138)x1 copy number loss See cases [RCV000135333] Chr1:97272349..108893138 [GRCh38]
Chr1:97737905..109435760 [GRCh37]
Chr1:97510493..109237283 [NCBI36]
Chr1:1p21.3-13.3		 pathogenic
GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3 copy number gain See cases [RCV000142953] Chr1:104325484..119977655 [GRCh38]
Chr1:104868106..120471049 [GRCh37]
Chr1:104669629..120321801 [NCBI36]
Chr1:1p21.1-12		 pathogenic
GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1 copy number loss See cases [RCV000142760] Chr1:105468292..112190626 [GRCh38]
Chr1:106010914..112733248 [GRCh37]
Chr1:105812437..112534771 [NCBI36]
Chr1:1p21.1-13.2		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_013386.5(SLC25A24):c.650G>A (p.Arg217His) single nucleotide variant Fontaine progeroid syndrome [RCV000508607]|not provided [RCV001249454] Chr1:108157481 [GRCh38]
Chr1:108700103 [GRCh37]
Chr1:1p13.3		 pathogenic|not provided
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_013386.5(SLC25A24):c.649C>T (p.Arg217Cys) single nucleotide variant Fontaine progeroid syndrome [RCV000508644]|not provided [RCV004721346] Chr1:108157482 [GRCh38]
Chr1:108700104 [GRCh37]
Chr1:1p13.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p13.3(chr1:108630839-108861489)x0 copy number loss See cases [RCV000510897] Chr1:108630839..108861489 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.199G>A (p.Gly67Arg) single nucleotide variant Inborn genetic diseases [RCV003295646] Chr1:108185939 [GRCh38]
Chr1:108728561 [GRCh37]
Chr1:1p13.3		 uncertain significance
GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3 copy number gain See cases [RCV000512354] Chr1:93837992..121343783 [GRCh37]
Chr1:1p22.1-11.2		 pathogenic
GRCh37/hg19 1p13.3(chr1:108532714-108900830)x3 copy number gain not provided [RCV000684612] Chr1:108532714..108900830 [GRCh37]
Chr1:1p13.3		 likely benign
GRCh37/hg19 1p13.3(chr1:108317254-108817167)x3 copy number gain not provided [RCV000684611] Chr1:108317254..108817167 [GRCh37]
Chr1:1p13.3		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NC_000001.11:g.(?_103175204)_(111410059_?)del deletion Autism [RCV000754122] Chr1:103175204..111410059 [GRCh38]
Chr1:1p21.1-13.2		 likely pathogenic
GRCh37/hg19 1p22.1-13.3(chr1:94054724-111671707)x3 copy number gain not provided [RCV000749068] Chr1:94054724..111671707 [GRCh37]
Chr1:1p22.1-13.3		 pathogenic
GRCh37/hg19 1p13.3(chr1:108696760-108737112)x1 copy number loss not provided [RCV000749128] Chr1:108696760..108737112 [GRCh37]
Chr1:1p13.3		 benign
GRCh37/hg19 1p13.3(chr1:108697084-108737112)x1 copy number loss not provided [RCV000749129] Chr1:108697084..108737112 [GRCh37]
Chr1:1p13.3		 benign
GRCh37/hg19 1p13.3(chr1:108699096-108737112)x1 copy number loss not provided [RCV000749130] Chr1:108699096..108737112 [GRCh37]
Chr1:1p13.3		 benign
GRCh37/hg19 1p13.3(chr1:108713557-108737112)x1 copy number loss not provided [RCV000749131] Chr1:108713557..108737112 [GRCh37]
Chr1:1p13.3		 benign
GRCh37/hg19 1p13.3(chr1:108726389-108736549)x0 copy number loss not provided [RCV000749132] Chr1:108726389..108736549 [GRCh37]
Chr1:1p13.3		 benign
GRCh37/hg19 1p13.3(chr1:108726389-108737112)x0 copy number loss not provided [RCV000749133] Chr1:108726389..108737112 [GRCh37]
Chr1:1p13.3		 benign
GRCh37/hg19 1p13.3(chr1:108728484-108737112)x1 copy number loss not provided [RCV000749134] Chr1:108728484..108737112 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.-194T>G single nucleotide variant not provided [RCV001707409] Chr1:108200332 [GRCh38]
Chr1:108742954 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.*124T>C single nucleotide variant not provided [RCV001640969] Chr1:108136529 [GRCh38]
Chr1:108679151 [GRCh37]
Chr1:1p13.3		 benign
NC_000001.11:g.108200556C>G single nucleotide variant not provided [RCV001643427] Chr1:108200556 [GRCh38]
Chr1:108743178 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.925A>G (p.Met309Val) single nucleotide variant not provided [RCV000884383] Chr1:108148284 [GRCh38]
Chr1:108690906 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.198T>A (p.Thr66=) single nucleotide variant not provided [RCV000968976] Chr1:108185940 [GRCh38]
Chr1:108728562 [GRCh37]
Chr1:1p13.3		 benign
Single allele deletion 1p13.3 deletion syndrome [RCV000786772] Chr1:107779092..111199205 [GRCh37]
Chr1:1p13.3		 likely pathogenic
NM_013386.5(SLC25A24):c.260A>G (p.His87Arg) single nucleotide variant not provided [RCV000994058] Chr1:108185878 [GRCh38]
Chr1:108728500 [GRCh37]
Chr1:1p13.3		 uncertain significance
NC_000001.10:g.(?_108679275)_(111674176_?)del deletion Hereditary spastic paraplegia 63 [RCV003105726] Chr1:108679275..111674176 [GRCh37]
Chr1:1p13.3		 pathogenic
NM_013386.5(SLC25A24):c.1390G>T (p.Val464Phe) single nucleotide variant Inborn genetic diseases [RCV003292074] Chr1:108136697 [GRCh38]
Chr1:108679319 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.184-6417C>G single nucleotide variant not provided [RCV001671238] Chr1:108192371 [GRCh38]
Chr1:108734993 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.1249+198C>A single nucleotide variant not provided [RCV001658513] Chr1:108138860 [GRCh38]
Chr1:108681482 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.511-74C>G single nucleotide variant not provided [RCV001682222] Chr1:108157694 [GRCh38]
Chr1:108700316 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.184-6807G>A single nucleotide variant not provided [RCV001652710] Chr1:108192761 [GRCh38]
Chr1:108735383 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.670-88G>C single nucleotide variant not provided [RCV001710797] Chr1:108155223 [GRCh38]
Chr1:108697845 [GRCh37]
Chr1:1p13.3		 benign
NC_000001.11:g.108200437G>C single nucleotide variant not provided [RCV001595245] Chr1:108200437 [GRCh38]
Chr1:108743059 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.758G>C (p.Gly253Ala) single nucleotide variant Bilateral tonic-clonic seizure [RCV000853499] Chr1:108155047 [GRCh38]
Chr1:108697669 [GRCh37]
Chr1:1p13.3		 likely pathogenic
NM_013386.5(SLC25A24):c.1273C>A (p.Leu425Met) single nucleotide variant Bilateral tonic-clonic seizure [RCV000853500] Chr1:108136814 [GRCh38]
Chr1:108679436 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1104dup (p.Lys369fs) duplication not provided [RCV000931331] Chr1:108139202..108139203 [GRCh38]
Chr1:108681824..108681825 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.4(SLC25A24):c.931delG deletion not provided [RCV000912874] Chr1:108143710 [GRCh38]
Chr1:108686332 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.830A>C (p.Lys277Thr) single nucleotide variant not provided [RCV004819184] Chr1:108148379 [GRCh38]
Chr1:108691001 [GRCh37]		 uncertain significance
NC_000001.11:g.108200420C>A single nucleotide variant not provided [RCV001676904] Chr1:108200420 [GRCh38]
Chr1:108743042 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.310+103A>G single nucleotide variant not provided [RCV001688361] Chr1:108185725 [GRCh38]
Chr1:108728347 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.184-6812A>T single nucleotide variant not provided [RCV001618742] Chr1:108192766 [GRCh38]
Chr1:108735388 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.311-116C>T single nucleotide variant not provided [RCV001595490] Chr1:108182144 [GRCh38]
Chr1:108724766 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.184-6735T>C single nucleotide variant not provided [RCV001654113] Chr1:108192689 [GRCh38]
Chr1:108735311 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.184-6636A>G single nucleotide variant SLC25A24-related disorder [RCV003975918]|not provided [RCV001678426]|not specified [RCV001732225] Chr1:108192590 [GRCh38]
Chr1:108735212 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.-165CCTGCGC[2] microsatellite not provided [RCV001616622] Chr1:108200283..108200289 [GRCh38]
Chr1:108742905..108742911 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.1099-192T>C single nucleotide variant not provided [RCV001696359] Chr1:108139400 [GRCh38]
Chr1:108682022 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.-192C>A single nucleotide variant not provided [RCV001666775] Chr1:108200330 [GRCh38]
Chr1:108742952 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.480G>A (p.Glu160=) single nucleotide variant not provided [RCV001663264] Chr1:108161212 [GRCh38]
Chr1:108703834 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.829A>G (p.Lys277Glu) single nucleotide variant Inborn genetic diseases [RCV004683600] Chr1:108148380 [GRCh38]
Chr1:108691002 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.812_822+1del deletion Fontaine progeroid syndrome [RCV001334717] Chr1:108154982..108154993 [GRCh38]
Chr1:108697604..108697615 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1250-3T>C single nucleotide variant not provided [RCV001312086] Chr1:108136840 [GRCh38]
Chr1:108679462 [GRCh37]
Chr1:1p13.3		 likely benign
GRCh37/hg19 1p21.2-12(chr1:102021465-119737478) copy number loss Seizure [RCV001352640] Chr1:102021465..119737478 [GRCh37]
Chr1:1p21.2-12		 pathogenic
NM_013386.5(SLC25A24):c.276A>G (p.Lys92=) single nucleotide variant Fontaine progeroid syndrome [RCV001807420]|not provided [RCV001538345] Chr1:108185862 [GRCh38]
Chr1:108728484 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.742C>T (p.Arg248Cys) single nucleotide variant Inborn genetic diseases [RCV002568184]|not provided [RCV001531004] Chr1:108155063 [GRCh38]
Chr1:108697685 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.184-6999A>G single nucleotide variant not provided [RCV001650463] Chr1:108192953 [GRCh38]
Chr1:108735575 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.311-43C>T single nucleotide variant not provided [RCV001648806] Chr1:108182071 [GRCh38]
Chr1:108724693 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.1249+80A>G single nucleotide variant not provided [RCV001687878] Chr1:108138978 [GRCh38]
Chr1:108681600 [GRCh37]
Chr1:1p13.3		 benign
NC_000001.11:g.108200518C>G single nucleotide variant not provided [RCV001667541] Chr1:108200518 [GRCh38]
Chr1:108743140 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.398+45T>C single nucleotide variant Fontaine progeroid syndrome [RCV001807472]|not provided [RCV001654172] Chr1:108181896 [GRCh38]
Chr1:108724518 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.670-143T>C single nucleotide variant not provided [RCV001674322] Chr1:108155278 [GRCh38]
Chr1:108697900 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.1099-114C>T single nucleotide variant not provided [RCV001716272] Chr1:108139322 [GRCh38]
Chr1:108681944 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.1250-73G>A single nucleotide variant not provided [RCV001708762] Chr1:108136910 [GRCh38]
Chr1:108679532 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.129G>A (p.Glu43=) single nucleotide variant not provided [RCV001688156] Chr1:108200010 [GRCh38]
Chr1:108742632 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.-132A>C single nucleotide variant not provided [RCV001537039] Chr1:108200270 [GRCh38]
Chr1:108742892 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.1103T>C (p.Leu368Ser) single nucleotide variant not provided [RCV001754985] Chr1:108139204 [GRCh38]
Chr1:108681826 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.424G>A (p.Val142Met) single nucleotide variant Fontaine progeroid syndrome [RCV002244176] Chr1:108161268 [GRCh38]
Chr1:108703890 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.869A>G (p.Glu290Gly) single nucleotide variant not provided [RCV001766938] Chr1:108148340 [GRCh38]
Chr1:108690962 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.848dup (p.Gln284fs) duplication not provided [RCV001767820] Chr1:108148360..108148361 [GRCh38]
Chr1:108690982..108690983 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1385A>G (p.Tyr462Cys) single nucleotide variant not provided [RCV001774364] Chr1:108136702 [GRCh38]
Chr1:108679324 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1286G>A (p.Gly429Asp) single nucleotide variant not provided [RCV001988430] Chr1:108136801 [GRCh38]
Chr1:108679423 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.918A>G (p.Ile306Met) single nucleotide variant not provided [RCV001969515] Chr1:108148291 [GRCh38]
Chr1:108690913 [GRCh37]
Chr1:1p13.3		 benign|uncertain significance
GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931) copy number loss not specified [RCV002053503] Chr1:95046805..114714931 [GRCh37]
Chr1:1p21.3-13.2		 pathogenic
GRCh37/hg19 1p13.3(chr1:108346477-110177123)x1 copy number loss not provided [RCV001827629] Chr1:108346477..110177123 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1250-1G>A single nucleotide variant not provided [RCV002016763] Chr1:108136838 [GRCh38]
Chr1:108679460 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.613G>A (p.Gly205Ser) single nucleotide variant not provided [RCV001881559] Chr1:108157518 [GRCh38]
Chr1:108700140 [GRCh37]
Chr1:1p13.3		 likely benign|uncertain significance
NM_013386.5(SLC25A24):c.842AAG[1] (p.Glu282del) microsatellite not provided [RCV002208682] Chr1:108148362..108148364 [GRCh38]
Chr1:108690984..108690986 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.174C>T (p.Asp58=) single nucleotide variant not provided [RCV002172319] Chr1:108199965 [GRCh38]
Chr1:108742587 [GRCh37]
Chr1:1p13.3		 likely benign
NC_000001.10:g.(?_108724543)_(108742760_?)del deletion not provided [RCV003116658] Chr1:108724543..108742760 [GRCh37]
Chr1:1p13.3		 uncertain significance
NC_000001.10:g.(?_108679275)_(109493059_?)del deletion not provided [RCV003122418] Chr1:108679275..109493059 [GRCh37]
Chr1:1p13.3		 uncertain significance
GRCh37/hg19 1p13.3(chr1:108084038-108946133)x3 copy number gain not provided [RCV002474756] Chr1:108084038..108946133 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.311-19C>T single nucleotide variant not provided [RCV002771190] Chr1:108182047 [GRCh38]
Chr1:108724669 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.398+11C>T single nucleotide variant not provided [RCV002775829] Chr1:108181930 [GRCh38]
Chr1:108724552 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.813A>G (p.Ala271=) single nucleotide variant not provided [RCV002686095] Chr1:108154992 [GRCh38]
Chr1:108697614 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.1229G>A (p.Arg410Lys) single nucleotide variant not provided [RCV002881603] Chr1:108139078 [GRCh38]
Chr1:108681700 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.613G>C (p.Gly205Arg) single nucleotide variant Inborn genetic diseases [RCV002779447] Chr1:108157518 [GRCh38]
Chr1:108700140 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1337G>A (p.Gly446Asp) single nucleotide variant Inborn genetic diseases [RCV002863964] Chr1:108136750 [GRCh38]
Chr1:108679372 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.101A>G (p.Asn34Ser) single nucleotide variant Inborn genetic diseases [RCV002689627] Chr1:108200038 [GRCh38]
Chr1:108742660 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.46C>T (p.Gln16Ter) single nucleotide variant not provided [RCV003054673] Chr1:108200093 [GRCh38]
Chr1:108742715 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.574G>A (p.Gly192Arg) single nucleotide variant not provided [RCV002786075] Chr1:108157557 [GRCh38]
Chr1:108700179 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1211A>T (p.Tyr404Phe) single nucleotide variant not provided [RCV002785881] Chr1:108139096 [GRCh38]
Chr1:108681718 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.65C>A (p.Thr22Lys) single nucleotide variant Inborn genetic diseases [RCV002703882] Chr1:108200074 [GRCh38]
Chr1:108742696 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.625C>T (p.Arg209Ter) single nucleotide variant not provided [RCV002619675] Chr1:108157506 [GRCh38]
Chr1:108700128 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.823-18del deletion not provided [RCV002570899] Chr1:108148404 [GRCh38]
Chr1:108691026 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.28C>T (p.Leu10=) single nucleotide variant not provided [RCV002596840] Chr1:108200111 [GRCh38]
Chr1:108742733 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.887C>G (p.Ser296Cys) single nucleotide variant Inborn genetic diseases [RCV002826269] Chr1:108148322 [GRCh38]
Chr1:108690944 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.931-9dup duplication not provided [RCV002958849] Chr1:108143718..108143719 [GRCh38]
Chr1:108686340..108686341 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.657A>G (p.Lys219=) single nucleotide variant not provided [RCV002596724] Chr1:108157474 [GRCh38]
Chr1:108700096 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.1022G>A (p.Gly341Glu) single nucleotide variant not provided [RCV003086081] Chr1:108143619 [GRCh38]
Chr1:108686241 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1134A>C (p.Lys378Asn) single nucleotide variant Inborn genetic diseases [RCV002961636]|not provided [RCV003778009] Chr1:108139173 [GRCh38]
Chr1:108681795 [GRCh37]
Chr1:1p13.3		 likely benign|uncertain significance
NM_013386.5(SLC25A24):c.357T>C (p.Gly119=) single nucleotide variant not provided [RCV002715987] Chr1:108181982 [GRCh38]
Chr1:108724604 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.1294C>T (p.Arg432Ter) single nucleotide variant not provided [RCV002629225] Chr1:108136793 [GRCh38]
Chr1:108679415 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.311-20C>T single nucleotide variant not provided [RCV002650747] Chr1:108182048 [GRCh38]
Chr1:108724670 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.183+7C>T single nucleotide variant SLC25A24-related disorder [RCV003916492]|not provided [RCV002581045] Chr1:108199949 [GRCh38]
Chr1:108742571 [GRCh37]
Chr1:1p13.3		 benign|likely benign
NM_013386.5(SLC25A24):c.889A>G (p.Met297Val) single nucleotide variant Inborn genetic diseases [RCV002940950] Chr1:108148320 [GRCh38]
Chr1:108690942 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1124A>C (p.Asn375Thr) single nucleotide variant Inborn genetic diseases [RCV002855549] Chr1:108139183 [GRCh38]
Chr1:108681805 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1072G>A (p.Ala358Thr) single nucleotide variant not provided [RCV002588771] Chr1:108143569 [GRCh38]
Chr1:108686191 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1250-10dup duplication not provided [RCV002943118] Chr1:108136846..108136847 [GRCh38]
Chr1:108679468..108679469 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.399-18A>G single nucleotide variant not provided [RCV002721721] Chr1:108161311 [GRCh38]
Chr1:108703933 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.1298G>A (p.Arg433Gln) single nucleotide variant Inborn genetic diseases [RCV003189705] Chr1:108136789 [GRCh38]
Chr1:108679411 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1A>C (p.Met1Leu) single nucleotide variant Fontaine progeroid syndrome [RCV003136746] Chr1:108200138 [GRCh38]
Chr1:108742760 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1346C>T (p.Pro449Leu) single nucleotide variant Fontaine progeroid syndrome [RCV003337914] Chr1:108136741 [GRCh38]
Chr1:108679363 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.234A>C (p.Glu78Asp) single nucleotide variant Inborn genetic diseases [RCV003349557] Chr1:108185904 [GRCh38]
Chr1:108728526 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.429C>A (p.Asp143Glu) single nucleotide variant Inborn genetic diseases [RCV003375961] Chr1:108161263 [GRCh38]
Chr1:108703885 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.42C>T (p.Ala14=) single nucleotide variant not provided [RCV003880265] Chr1:108200097 [GRCh38]
Chr1:108742719 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.258C>T (p.Asp86=) single nucleotide variant not provided [RCV003571223] Chr1:108185880 [GRCh38]
Chr1:108728502 [GRCh37]
Chr1:1p13.3		 likely benign
GRCh37/hg19 1p13.3(chr1:108713557-108766343)x1 copy number loss not provided [RCV003483260] Chr1:108713557..108766343 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1360G>A (p.Val454Met) single nucleotide variant SLC25A24-related disorder [RCV003397348] Chr1:108136727 [GRCh38]
Chr1:108679349 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1076G>T (p.Gly359Val) single nucleotide variant not provided [RCV003406637] Chr1:108143565 [GRCh38]
Chr1:108686187 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.484A>G (p.Ile162Val) single nucleotide variant not provided [RCV003441665] Chr1:108161208 [GRCh38]
Chr1:108703830 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.822+1G>A single nucleotide variant not provided [RCV003830441] Chr1:108154982 [GRCh38]
Chr1:108697604 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.462T>G (p.Asn154Lys) single nucleotide variant not provided [RCV003739780] Chr1:108161230 [GRCh38]
Chr1:108703852 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1235G>A (p.Arg412His) single nucleotide variant not provided [RCV003881248] Chr1:108139072 [GRCh38]
Chr1:108681694 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1238_1247del (p.Met413fs) deletion not provided [RCV003661991] Chr1:108139060..108139069 [GRCh38]
Chr1:108681682..108681691 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.903_904dup (p.Ala302fs) duplication not provided [RCV003828293] Chr1:108148304..108148305 [GRCh38]
Chr1:108690926..108690927 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.715C>T (p.Arg239Ter) single nucleotide variant not specified [RCV003490839] Chr1:108155090 [GRCh38]
Chr1:108697712 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1389G>T (p.Val463=) single nucleotide variant not provided [RCV003545866] Chr1:108136698 [GRCh38]
Chr1:108679320 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.183+17G>T single nucleotide variant not provided [RCV003879744] Chr1:108199939 [GRCh38]
Chr1:108742561 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.1024G>C (p.Ala342Pro) single nucleotide variant not provided [RCV003850327] Chr1:108143617 [GRCh38]
Chr1:108686239 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.490C>T (p.Arg164Cys) single nucleotide variant not provided [RCV003724614] Chr1:108161202 [GRCh38]
Chr1:108703824 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.832T>C (p.Leu278=) single nucleotide variant not provided [RCV003840290] Chr1:108148377 [GRCh38]
Chr1:108690999 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.1316G>T (p.Gly439Val) single nucleotide variant Inborn genetic diseases [RCV004366890]|not provided [RCV003839486] Chr1:108136771 [GRCh38]
Chr1:108679393 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.823-10G>T single nucleotide variant SLC25A24-related disorder [RCV003929233]|not provided [RCV003548802] Chr1:108148396 [GRCh38]
Chr1:108691018 [GRCh37]
Chr1:1p13.3		 benign|likely benign
NM_013386.5(SLC25A24):c.373C>A (p.Gln125Lys) single nucleotide variant not provided [RCV003726038] Chr1:108181966 [GRCh38]
Chr1:108724588 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.290G>C (p.Ser97Thr) single nucleotide variant not provided [RCV003700034] Chr1:108185848 [GRCh38]
Chr1:108728470 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.310+4T>C single nucleotide variant not provided [RCV003552103] Chr1:108185824 [GRCh38]
Chr1:108728446 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.1433G>T (p.Ter478Leu) single nucleotide variant not provided [RCV003993378] Chr1:108136654 [GRCh38]
Chr1:108679276 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.202G>C (p.Asp68His) single nucleotide variant Fontaine progeroid syndrome [RCV003989977] Chr1:108185936 [GRCh38]
Chr1:108728558 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.184-6576A>T single nucleotide variant SLC25A24-related disorder [RCV003964592] Chr1:108192530 [GRCh38]
Chr1:108735152 [GRCh37]
Chr1:1p13.3		 benign
NM_013386.5(SLC25A24):c.766A>G (p.Thr256Ala) single nucleotide variant SLC25A24-related disorder [RCV003951378] Chr1:108155039 [GRCh38]
Chr1:108697661 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.60G>A (p.Gln20=) single nucleotide variant SLC25A24-related disorder [RCV003904043] Chr1:108200079 [GRCh38]
Chr1:108742701 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.669+6C>G single nucleotide variant SLC25A24-related disorder [RCV003941689] Chr1:108157456 [GRCh38]
Chr1:108700078 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.216T>C (p.Asp72=) single nucleotide variant SLC25A24-related disorder [RCV003934502] Chr1:108185922 [GRCh38]
Chr1:108728544 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.75G>A (p.Glu25=) single nucleotide variant SLC25A24-related disorder [RCV003981640] Chr1:108200064 [GRCh38]
Chr1:108742686 [GRCh37]
Chr1:1p13.3		 likely benign
NM_013386.5(SLC25A24):c.436G>A (p.Glu146Lys) single nucleotide variant Inborn genetic diseases [RCV004456461] Chr1:108161256 [GRCh38]
Chr1:108703878 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.707G>A (p.Gly236Asp) single nucleotide variant Inborn genetic diseases [RCV004456465] Chr1:108155098 [GRCh38]
Chr1:108697720 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.140G>T (p.Gly47Val) single nucleotide variant Inborn genetic diseases [RCV004456458] Chr1:108199999 [GRCh38]
Chr1:108742621 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.61C>T (p.Pro21Ser) single nucleotide variant Inborn genetic diseases [RCV004456462] Chr1:108200078 [GRCh38]
Chr1:108742700 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.701T>C (p.Ile234Thr) single nucleotide variant Inborn genetic diseases [RCV004456464] Chr1:108155104 [GRCh38]
Chr1:108697726 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1040A>G (p.Tyr347Cys) single nucleotide variant Inborn genetic diseases [RCV004456456] Chr1:108143601 [GRCh38]
Chr1:108686223 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.696G>A (p.Met232Ile) single nucleotide variant Inborn genetic diseases [RCV004456463] Chr1:108155109 [GRCh38]
Chr1:108697731 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.846A>C (p.Glu282Asp) single nucleotide variant Inborn genetic diseases [RCV004456468] Chr1:108148363 [GRCh38]
Chr1:108690985 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1254G>T (p.Met418Ile) single nucleotide variant Inborn genetic diseases [RCV004456457] Chr1:108136833 [GRCh38]
Chr1:108679455 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.17G>C (p.Arg6Pro) single nucleotide variant Inborn genetic diseases [RCV004456459] Chr1:108200122 [GRCh38]
Chr1:108742744 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.830A>G (p.Lys277Arg) single nucleotide variant Inborn genetic diseases [RCV004456467] Chr1:108148379 [GRCh38]
Chr1:108691001 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.866T>C (p.Phe289Ser) single nucleotide variant Inborn genetic diseases [RCV004456469] Chr1:108148343 [GRCh38]
Chr1:108690965 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1139C>G (p.Ser380Cys) single nucleotide variant Inborn genetic diseases [RCV004672313] Chr1:108139168 [GRCh38]
Chr1:108681790 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1343C>T (p.Thr448Ile) single nucleotide variant Inborn genetic diseases [RCV004672314] Chr1:108136744 [GRCh38]
Chr1:108679366 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.931G>T (p.Val311Phe) single nucleotide variant Fontaine progeroid syndrome [RCV004595093] Chr1:108143710 [GRCh38]
Chr1:108686332 [GRCh37]
Chr1:1p13.3		 uncertain significance
NM_013386.5(SLC25A24):c.1250C>T (p.Ala417Val) single nucleotide variant SLC25A24-related disorder [RCV004730379] Chr1:108136837 [GRCh38]
Chr1:108679459 [GRCh37]
Chr1:1p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2916
Count of miRNA genes:951
Interacting mature miRNAs:1134
Transcripts:ENST00000264128, ENST00000370041, ENST00000565488, ENST00000569674
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407094631GWAS743607_Hneutrophil count QTL GWAS743607 (human)1e-23neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)1108199501108199502Human
597294268GWAS1390342_Hcardiac troponin T measurement QTL GWAS1390342 (human)0.000008cardiac troponin T measurementblood troponin T level (CMO:0001284)1108137440108137441Human
1300021BP45_HBlood pressure QTL 45 (human)1.770.00218Blood pressuresystolic1103389009129389009Human
597096286GWAS1192360_Hleukocyte count QTL GWAS1192360 (human)5e-15leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)1108199501108199502Human
597303830GWAS1399904_Hneutrophil count QTL GWAS1399904 (human)2e-15neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)1108194964108194965Human
597251511GWAS1347585_Hbacteroides seropositivity QTL GWAS1347585 (human)3e-08bacteroides seropositivity1108137718108137719Human
597079608GWAS1175682_Hmyeloid white cell count QTL GWAS1175682 (human)6e-19myeloid white cell countwhite blood cell count (CMO:0000027)1108199501108199502Human
407078704GWAS727680_Hmyeloid white cell count QTL GWAS727680 (human)4e-10myeloid white cell countwhite blood cell count (CMO:0000027)1108196158108196159Human
597104706GWAS1200780_Hneutrophil count QTL GWAS1200780 (human)7e-18neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)1108199501108199502Human
597302255GWAS1398329_Hacute graft vs. host disease, donor genotype effect measurement QTL GWAS1398329 (human)0.0000004acute graft vs. host disease, donor genotype effect measurement1108200282108200283Human
597046976GWAS1143050_Hleukocyte count QTL GWAS1143050 (human)1e-11leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)1108199501108199502Human
597083788GWAS1179862_Hmyeloid white cell count QTL GWAS1179862 (human)6e-21myeloid white cell countwhite blood cell count (CMO:0000027)1108194964108194965Human
597081805GWAS1177879_Hneutrophil count QTL GWAS1177879 (human)2e-24neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)1108199501108199502Human
597314151GWAS1410225_Hleukocyte count QTL GWAS1410225 (human)8e-13leukocyte quantity (VT:0000217)white blood cell count (CMO:0000027)1108194964108194965Human
597353732GWAS1449806_Hbody height QTL GWAS1449806 (human)0.000006body height (VT:0001253)body height (CMO:0000106)1108138196108138197Human

Markers in Region
SHGC-75246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371108,677,505 - 108,677,688UniSTSGRCh37
Build 361108,479,028 - 108,479,211RGDNCBI36
Celera1106,852,217 - 106,852,400RGD
Cytogenetic Map1p13.3UniSTS
HuRef1106,623,092 - 106,623,275UniSTS
GeneMap99-GB4 RH Map1334.11UniSTS
AL009685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371108,740,978 - 108,741,122UniSTSGRCh37
Build 361108,542,501 - 108,542,645RGDNCBI36
Celera1106,915,683 - 106,915,827RGD
Cytogenetic Map1p13.3UniSTS
HuRef1106,686,477 - 106,686,621UniSTS
RH26333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371108,677,561 - 108,677,743UniSTSGRCh37
Build 361108,479,084 - 108,479,266RGDNCBI36
Celera1106,852,273 - 106,852,455RGD
Cytogenetic Map1p13.3UniSTS
HuRef1106,623,148 - 106,623,330UniSTS
G48197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371108,714,794 - 108,715,013UniSTSGRCh37
Build 361108,516,317 - 108,516,536RGDNCBI36
Celera1106,889,519 - 106,889,738RGD
Cytogenetic Map1p13.3UniSTS
HuRef1106,660,410 - 106,660,629UniSTS
RH103471  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371108,710,814 - 108,710,895UniSTSGRCh37
Build 361108,512,337 - 108,512,418RGDNCBI36
Celera1106,885,539 - 106,885,620RGD
Cytogenetic Map1p13.3UniSTS
HuRef1106,656,430 - 106,656,511UniSTS
GeneMap99-GB4 RH Map1334.73UniSTS
D1S3169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371108,691,520 - 108,691,669UniSTSGRCh37
Build 361108,493,043 - 108,493,192RGDNCBI36
Celera1106,866,233 - 106,866,382RGD
Cytogenetic Map1p13.3UniSTS
HuRef1106,637,108 - 106,637,257UniSTS
SLC25A24_9617  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371108,677,425 - 108,678,337UniSTSGRCh37
Build 361108,478,948 - 108,479,860RGDNCBI36
Celera1106,852,137 - 106,853,049RGD
HuRef1106,623,012 - 106,623,924UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2249 4972 1726 2351 6 624 1932 465 2269 7291 6457 53 3733 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_213651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC275454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF123303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ619961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ619987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL390036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW069035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE243559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ685792 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC309482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC340944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC416591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000264128   ⟹   ENSP00000264128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,134,820 - 108,200,279 (-)Ensembl
Ensembl Acc Id: ENST00000370041   ⟹   ENSP00000359058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,134,823 - 108,192,818 (-)Ensembl
Ensembl Acc Id: ENST00000565488   ⟹   ENSP00000457733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,134,043 - 108,200,343 (-)Ensembl
Ensembl Acc Id: ENST00000569674   ⟹   ENSP00000454393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,198,493 - 108,200,849 (-)Ensembl
Ensembl Acc Id: ENST00000648874   ⟹   ENSP00000497117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1108,134,869 - 108,200,319 (-)Ensembl
RefSeq Acc Id: NM_013386   ⟹   NP_037518
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,134,043 - 108,200,343 (-)NCBI
GRCh371108,677,344 - 108,742,980 (-)NCBI
Build 361108,478,968 - 108,544,497 (-)NCBI Archive
Celera1106,852,157 - 106,917,679 (-)RGD
HuRef1106,622,931 - 106,688,475 (-)NCBI
CHM1_11108,792,122 - 108,857,831 (-)NCBI
T2T-CHM13v2.01108,171,581 - 108,233,988 (-)NCBI
Sequence:
RefSeq Acc Id: NM_213651   ⟹   NP_998816
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,134,043 - 108,192,835 (-)NCBI
GRCh371108,677,344 - 108,742,980 (-)NCBI
Build 361108,478,968 - 108,536,886 (-)NCBI Archive
Celera1106,852,157 - 106,917,679 (-)RGD
HuRef1106,622,931 - 106,688,475 (-)NCBI
CHM1_11108,792,122 - 108,850,282 (-)NCBI
T2T-CHM13v2.01108,171,581 - 108,223,494 (-)NCBI
Sequence:
RefSeq Acc Id: NP_037518   ⟸   NM_013386
- Peptide Label: isoform 1
- UniProtKB: Q705K4 (UniProtKB/Swiss-Prot),   Q6PJJ9 (UniProtKB/Swiss-Prot),   Q5T485 (UniProtKB/Swiss-Prot),   Q5T331 (UniProtKB/Swiss-Prot),   B7ZAI9 (UniProtKB/Swiss-Prot),   Q9P129 (UniProtKB/Swiss-Prot),   Q6NUK1 (UniProtKB/Swiss-Prot),   B4E290 (UniProtKB/TrEMBL),   B7ZB41 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_998816   ⟸   NM_213651
- Peptide Label: isoform 2
- UniProtKB: B4E290 (UniProtKB/TrEMBL),   B7ZB41 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000454393   ⟸   ENST00000569674
Ensembl Acc Id: ENSP00000497117   ⟸   ENST00000648874
Ensembl Acc Id: ENSP00000359058   ⟸   ENST00000370041
Ensembl Acc Id: ENSP00000457733   ⟸   ENST00000565488
Ensembl Acc Id: ENSP00000264128   ⟸   ENST00000264128
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6NUK1-F1-model_v2 AlphaFold Q6NUK1 1-477 view protein structure

Promoters
RGD ID:6856432
Promoter ID:EPDNEW_H1381
Type:initiation region
Name:SLC25A24_3
Description:solute carrier family 25 member 24
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1382  EPDNEW_H1383  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,192,799 - 108,192,859EPDNEW
RGD ID:6856434
Promoter ID:EPDNEW_H1382
Type:initiation region
Name:SLC25A24_2
Description:solute carrier family 25 member 24
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1381  EPDNEW_H1383  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,200,174 - 108,200,234EPDNEW
RGD ID:6856436
Promoter ID:EPDNEW_H1383
Type:initiation region
Name:SLC25A24_1
Description:solute carrier family 25 member 24
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1381  EPDNEW_H1382  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381108,200,291 - 108,200,351EPDNEW
RGD ID:6786868
Promoter ID:HG_KWN:3916
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000030280
Position:
Human AssemblyChrPosition (strand)Source
Build 361108,544,376 - 108,544,876 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20662 AgrOrtholog
COSMIC SLC25A24 COSMIC
Ensembl Genes ENSG00000085491 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000284468 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000264128.13 UniProtKB/TrEMBL
  ENST00000370041 ENTREZGENE
  ENST00000370041.4 UniProtKB/Swiss-Prot
  ENST00000565488 ENTREZGENE
  ENST00000565488.6 UniProtKB/Swiss-Prot
  ENST00000569674.1 UniProtKB/TrEMBL
  ENST00000639032.1 UniProtKB/Swiss-Prot
  ENST00000639606.1 UniProtKB/TrEMBL
  ENST00000640018.1 UniProtKB/TrEMBL
  ENST00000640416.2 UniProtKB/Swiss-Prot
  ENST00000648874.1 UniProtKB/TrEMBL
  ENST00000649955.1 UniProtKB/TrEMBL
Gene3D-CATH 1.50.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000085491 GTEx
  ENSG00000284468 GTEx
HGNC ID HGNC:20662 ENTREZGENE
Human Proteome Map SLC25A24 Human Proteome Map
InterPro Ca-bind_SignalingProt UniProtKB/TrEMBL
  EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GDC-like UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  Mit_carrier UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mitochondrial_sb/sol_carrier UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mt_carrier_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29957 UniProtKB/Swiss-Prot
NCBI Gene 29957 ENTREZGENE
OMIM 608744 OMIM
PANTHER CALCIUM-BINDING MITOCHONDRIAL CARRIER PROTEIN SCAMC-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CALCIUM-BINDING PROTEIN P UniProtKB/TrEMBL
  CALCYPHOSIN UniProtKB/TrEMBL
  CALCYPHOSIN-2 UniProtKB/TrEMBL
  SOLUTE CARRIER FAMILY 25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EF-hand_6 UniProtKB/TrEMBL
  EF-hand_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mito_carr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134978257 PharmGKB
PRINTS GRAVESDC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MITOCARRIER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOLCAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103506 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IU96_HUMAN UniProtKB/TrEMBL
  B4E290 ENTREZGENE, UniProtKB/TrEMBL
  B7ZAI9 ENTREZGENE
  B7ZB41 ENTREZGENE, UniProtKB/TrEMBL
  H3BMI3_HUMAN UniProtKB/TrEMBL
  J3KN42_HUMAN UniProtKB/TrEMBL
  Q5T331 ENTREZGENE
  Q5T485 ENTREZGENE
  Q6NUK1 ENTREZGENE
  Q6PJJ9 ENTREZGENE
  Q705K4 ENTREZGENE
  Q9P129 ENTREZGENE
  SCMC1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B7ZAI9 UniProtKB/Swiss-Prot
  Q5T331 UniProtKB/Swiss-Prot
  Q5T485 UniProtKB/Swiss-Prot
  Q6PJJ9 UniProtKB/Swiss-Prot
  Q705K4 UniProtKB/Swiss-Prot
  Q9P129 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC25A24  solute carrier family 25 member 24    solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24  Symbol and/or name change 5135510 APPROVED
2012-05-29 SLC25A24  solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24  SLC25A24  solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24  Symbol and/or name change 5135510 APPROVED