SLC51A (solute carrier family 51 member A) - Rat Genome Database

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Gene: SLC51A (solute carrier family 51 member A) Homo sapiens
Analyze
Symbol: SLC51A
Name: solute carrier family 51 member A (Ensembl:solute carrier family 51 subunit alpha)
RGD ID: 1604974
HGNC Page HGNC:29955
Description: Predicted to enable protein heterodimerization activity and protein homodimerization activity. Involved in bile acid secretion. Located in basolateral plasma membrane. Implicated in progressive familial intrahepatic cholestasis.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: MGC39807; organic solute transporter alpha; organic solute transporter subunit alpha; organic solute transporter, alpha subunit; OST-alpha; OSTA; OSTalpha; PFIC6; SLC51A1; solute carrier family 51 alpha subunit; solute carrier family 51 subunit alpha; solute carrier family 51, alpha subunit
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
GRCh383196,216,534 - 196,233,427 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3196,211,487 - 196,243,178 (+)EnsemblGRCh38hg38GRCh38
GRCh373195,943,405 - 195,960,298 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363197,427,780 - 197,444,698 (+)NCBINCBI36Build 36hg18NCBI36
Celera3194,523,852 - 194,541,937 (+)NCBICelera
Cytogenetic Map3q29NCBI
HuRef3193,243,225 - 193,260,016 (+)NCBIHuRef
CHM1_13195,914,213 - 195,931,131 (+)NCBICHM1_1
T2T-CHM13v2.03198,936,009 - 198,952,903 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP,ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
3-chloropropane-1,2-diol  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP)
alfacalcidol  (ISO)
all-trans-retinoic acid  (EXP,ISO)
amoxicillin  (EXP)
atazanavir sulfate  (EXP)
Augmentin  (EXP)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
beta-hexachlorocyclohexane  (ISO)
bisphenol A  (EXP,ISO)
bosentan  (EXP)
bromobenzene  (ISO)
budesonide  (EXP,ISO)
buta-1,3-diene  (ISO)
calcitriol  (EXP)
captan  (ISO)
chenodeoxycholic acid  (EXP,ISO)
cholic acid  (EXP,ISO)
cisplatin  (EXP)
clavulanic acid  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
DDE  (ISO)
decabromodiphenyl ether  (ISO)
deoxycholic acid  (EXP,ISO)
deoxynivalenol  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
dioxygen  (EXP)
diquat  (ISO)
diuron  (ISO)
epoxiconazole  (ISO)
fenvalerate  (ISO)
fidaxomicin  (EXP)
fipronil  (ISO)
flutamide  (ISO)
folpet  (ISO)
fulvestrant  (EXP)
furan  (ISO)
gentamycin  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
GW 4064  (EXP,ISO)
hydrogen peroxide  (EXP)
imipenem hydrate  (ISO)
leflunomide  (EXP)
lithocholic acid  (EXP,ISO)
loperamide  (ISO)
methapyrilene  (EXP)
methimazole  (ISO)
methotrexate  (EXP)
N-Nitrosopyrrolidine  (EXP)
nickel atom  (EXP)
O-methyleugenol  (EXP)
obeticholic acid  (EXP,ISO)
oleanolic acid  (ISO)
paracetamol  (EXP,ISO)
perfluorobutanesulfonic acid  (EXP)
perfluorohexanesulfonic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
phenethyl caffeate  (ISO)
phenobarbital  (EXP,ISO)
procymidone  (ISO)
propiconazole  (EXP)
prothioconazole  (ISO)
Prothioconazole-desthio  (ISO)
pyrazinecarboxamide  (ISO)
quercetin  (EXP)
quinolin-8-ol  (EXP)
resveratrol  (EXP)
rifampicin  (EXP)
ritonavir  (EXP)
sodium arsenite  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
tamoxifen  (ISO)
taurochenodeoxycholic acid  (EXP)
taurocholic acid  (EXP)
tebuconazole  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triclosan  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
urethane  (EXP)
ursodeoxycholic acid  (EXP,ISO)
valproic acid  (EXP)
vancomycin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
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:12477932   PMID:12719432   PMID:15563450   PMID:16251721   PMID:16269519   PMID:16317684   PMID:16423920   PMID:16713569   PMID:17332473   PMID:18469300   PMID:18847488   PMID:20538072  
PMID:21691099   PMID:21873635   PMID:22404213   PMID:22535958   PMID:24703425   PMID:24816252   PMID:28005267   PMID:28514442   PMID:32296183   PMID:32814053   PMID:33031748   PMID:33961781  


Genomics

Comparative Map Data
SLC51A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383196,216,534 - 196,233,427 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3196,211,487 - 196,243,178 (+)EnsemblGRCh38hg38GRCh38
GRCh373195,943,405 - 195,960,298 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 363197,427,780 - 197,444,698 (+)NCBINCBI36Build 36hg18NCBI36
Celera3194,523,852 - 194,541,937 (+)NCBICelera
Cytogenetic Map3q29NCBI
HuRef3193,243,225 - 193,260,016 (+)NCBIHuRef
CHM1_13195,914,213 - 195,931,131 (+)NCBICHM1_1
T2T-CHM13v2.03198,936,009 - 198,952,903 (+)NCBIT2T-CHM13v2.0
Slc51a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391632,294,396 - 32,306,697 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1632,293,322 - 32,306,697 (-)EnsemblGRCm39 Ensembl
GRCm381632,475,578 - 32,487,879 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1632,474,504 - 32,487,879 (-)EnsemblGRCm38mm10GRCm38
MGSCv371632,475,664 - 32,487,965 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361632,395,325 - 32,407,626 (-)NCBIMGSCv36mm8
Celera1632,959,481 - 32,971,619 (-)NCBICelera
Cytogenetic Map16B3NCBI
cM Map1622.7NCBI
Slc51a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81181,804,141 - 81,818,539 (+)NCBIGRCr8
mRatBN7.21168,299,086 - 68,313,485 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1168,299,086 - 68,313,485 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1177,136,126 - 77,150,524 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01169,800,636 - 69,815,078 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01168,825,248 - 68,839,646 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01171,533,078 - 71,547,476 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1171,533,078 - 71,547,476 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01174,617,803 - 74,632,201 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41170,115,430 - 70,129,828 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11170,173,221 - 70,187,418 (+)NCBI
Celera1167,731,785 - 67,746,102 (+)NCBICelera
Cytogenetic Map11q22NCBI
Slc51a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542012,453,554 - 12,463,150 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542012,452,562 - 12,463,369 (+)NCBIChiLan1.0ChiLan1.0
SLC51A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22194,078,855 - 194,097,955 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13194,083,598 - 194,102,672 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03193,554,592 - 193,573,984 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13203,504,092 - 203,521,354 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3203,504,092 - 203,521,354 (+)Ensemblpanpan1.1panPan2
SLC51A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13329,336,000 - 29,361,782 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3329,336,552 - 29,361,738 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3329,359,044 - 29,386,089 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03329,568,832 - 29,595,224 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3329,577,626 - 29,595,172 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13329,355,369 - 29,382,432 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03329,409,253 - 29,436,254 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03330,032,590 - 30,059,010 (+)NCBIUU_Cfam_GSD_1.0
Slc51a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602125,000,914 - 125,019,174 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936784866,350 - 884,355 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936784864,019 - 887,755 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC51A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13133,851,776 - 133,869,753 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113133,851,775 - 133,869,753 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213143,289,639 - 143,307,618 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC51A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11590,953,601 - 90,970,958 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1590,949,639 - 90,970,240 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604164,791,102 - 64,810,753 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc51a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473061,404,807 - 61,416,384 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473061,405,480 - 61,416,602 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC51A
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 3q29(chr3:195457650-196263123) copy number loss Autism [RCV000626534] Chr3:195457650..196263123 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:196013486-197590232)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050877]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050877]|See cases [RCV000050877] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196013486-197590232)x1 copy number loss See cases [RCV000050878] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance|conflicting data from submitters
GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1 copy number loss See cases [RCV000051608] Chr3:185485849..198110178 [GRCh38]
Chr3:185203637..197837049 [GRCh37]
Chr3:186686331..199321446 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197503306)x3 copy number gain See cases [RCV000051013] Chr3:196013486..197503306 [GRCh38]
Chr3:195740357..197230177 [GRCh37]
Chr3:197224754..198714574 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196077857-197165715)x1 copy number loss See cases [RCV000051202] Chr3:196077857..197165715 [GRCh38]
Chr3:195804728..196892586 [GRCh37]
Chr3:197289125..198376983 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3 copy number gain See cases [RCV000051725] Chr3:147521892..198096565 [GRCh38]
Chr3:147239679..197823436 [GRCh37]
Chr3:148722369..199307833 [NCBI36]
Chr3:3q24-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3 copy number gain See cases [RCV000051726] Chr3:157293378..198134727 [GRCh38]
Chr3:157011167..197861598 [GRCh37]
Chr3:158493861..199345995 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:178411707-198110319)x3 copy number gain See cases [RCV000051736] Chr3:178411707..198110319 [GRCh38]
Chr3:178129495..197837190 [GRCh37]
Chr3:179612189..199321587 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3 copy number gain See cases [RCV000051738] Chr3:185920880..198110319 [GRCh38]
Chr3:185638668..197837190 [GRCh37]
Chr3:187121362..199321587 [NCBI36]
Chr3:3q27.2-29		 pathogenic
GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3 copy number gain See cases [RCV000051739] Chr3:189265371..198110178 [GRCh38]
Chr3:188983160..197837049 [GRCh37]
Chr3:190465854..199321446 [NCBI36]
Chr3:3q28-29		 pathogenic
GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3 copy number gain See cases [RCV000051740] Chr3:190667663..198110178 [GRCh38]
Chr3:190385452..197837049 [GRCh37]
Chr3:191868146..199321446 [NCBI36]
Chr3:3q28-29		 pathogenic
GRCh38/hg38 3q29(chr3:193917490-198110319)x3 copy number gain See cases [RCV000051741] Chr3:193917490..198110319 [GRCh38]
Chr3:193635279..197837190 [GRCh37]
Chr3:195117973..199321587 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:194424496-198168758)x3 copy number gain See cases [RCV000051742] Chr3:194424496..198168758 [GRCh38]
Chr3:194145225..197895629 [GRCh37]
Chr3:195626514..199380026 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q22.3-29(chr3:137126982-198110178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051723]|See cases [RCV000051723] Chr3:137126982..198110178 [GRCh38]
Chr3:136845824..197837049 [GRCh37]
Chr3:138328514..199321446 [NCBI36]
Chr3:3q22.3-29		 pathogenic
GRCh38/hg38 3q29(chr3:196035777-197658540)x1 copy number loss See cases [RCV000053114] Chr3:196035777..197658540 [GRCh38]
Chr3:195762648..197385411 [GRCh37]
Chr3:197247045..198869808 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196035777-197625573)x1 copy number loss See cases [RCV000053115] Chr3:196035777..197625573 [GRCh38]
Chr3:195762648..197352444 [GRCh37]
Chr3:197247045..198836841 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196077857-197693741)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053125]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053125]|See cases [RCV000053125] Chr3:196077857..197693741 [GRCh38]
Chr3:195804728..197420612 [GRCh37]
Chr3:197289125..198905009 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:195896948-198110178)x3 copy number gain See cases [RCV000053541] Chr3:195896948..198110178 [GRCh38]
Chr3:195623819..197837049 [GRCh37]
Chr3:197108216..199321446 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195917073-196336765)x3 copy number gain See cases [RCV000053542] Chr3:195917073..196336765 [GRCh38]
Chr3:195643944..196063636 [GRCh37]
Chr3:197128341..197548033 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195711798-197976152)x3 copy number gain See cases [RCV000053540] Chr3:195711798..197976152 [GRCh38]
Chr3:195438669..197703023 [GRCh37]
Chr3:196924340..199187420 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195755702-197583580)x3 copy number gain See cases [RCV000053853] Chr3:195755702..197583580 [GRCh38]
Chr3:195482573..197310451 [GRCh37]
Chr3:196968244..198794848 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195965316-197625573)x3 copy number gain See cases [RCV000053854] Chr3:195965316..197625573 [GRCh38]
Chr3:195692187..197352444 [GRCh37]
Chr3:197176584..198836841 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195972720-197658495)x3 copy number gain See cases [RCV000053855] Chr3:195972720..197658495 [GRCh38]
Chr3:195699591..197385366 [GRCh37]
Chr3:197183988..198869763 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:195997494-197662231)x3 copy number gain See cases [RCV000053856] Chr3:195997494..197662231 [GRCh38]
Chr3:195724365..197389102 [GRCh37]
Chr3:197208762..198873499 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196035777-197606438)x3 copy number gain See cases [RCV000053857] Chr3:196035777..197606438 [GRCh38]
Chr3:195762648..197333309 [GRCh37]
Chr3:197247045..198817706 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196035777-197662231)x3 copy number gain See cases [RCV000053858] Chr3:196035777..197662231 [GRCh38]
Chr3:195762648..197389102 [GRCh37]
Chr3:197247045..198873499 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:196013486-197590232)x3 copy number gain See cases [RCV000050877] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q29(chr3:194338534-197693741)x1 copy number loss See cases [RCV000136517] Chr3:194338534..197693741 [GRCh38]
Chr3:194059263..197420612 [GRCh37]
Chr3:195540958..198905009 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3 copy number gain See cases [RCV000137106] Chr3:168167568..198110178 [GRCh38]
Chr3:167885356..197837049 [GRCh37]
Chr3:169368050..199321446 [NCBI36]
Chr3:3q26.2-29		 pathogenic
GRCh38/hg38 3q29(chr3:195711798-198110178)x3 copy number gain See cases [RCV000137110] Chr3:195711798..198110178 [GRCh38]
Chr3:195438669..197837049 [GRCh37]
Chr3:196924340..199321446 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:195974291-197597912)x1 copy number loss See cases [RCV000137696] Chr3:195974291..197597912 [GRCh38]
Chr3:195701162..197324783 [GRCh37]
Chr3:197185559..198809180 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3 copy number gain See cases [RCV000138009] Chr3:176439911..198118383 [GRCh38]
Chr3:176157699..197845254 [GRCh37]
Chr3:177640393..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic|likely benign
GRCh38/hg38 3q29(chr3:192752937-198118383)x3 copy number gain See cases [RCV000137827] Chr3:192752937..198118383 [GRCh38]
Chr3:192470726..197845254 [GRCh37]
Chr3:193953420..199329651 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3 copy number gain See cases [RCV000138662] Chr3:176168525..198118383 [GRCh38]
Chr3:175886313..197845254 [GRCh37]
Chr3:177369007..199329651 [NCBI36]
Chr3:3q26.32-29		 pathogenic
GRCh38/hg38 3q29(chr3:195955711-197597912)x1 copy number loss See cases [RCV000138878] Chr3:195955711..197597912 [GRCh38]
Chr3:195682582..197324783 [GRCh37]
Chr3:197166979..198809180 [NCBI36]
Chr3:3q29		 pathogenic|uncertain significance
GRCh38/hg38 3q29(chr3:194296197-198110198)x3 copy number gain See cases [RCV000138492] Chr3:194296197..198110198 [GRCh38]
Chr3:194013986..197837069 [GRCh37]
Chr3:195496680..199321466 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196013531-197590232)x1 copy number loss See cases [RCV000138573] Chr3:196013531..197590232 [GRCh38]
Chr3:195740402..197317103 [GRCh37]
Chr3:197224799..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3 copy number gain See cases [RCV000139435] Chr3:152100512..198118383 [GRCh38]
Chr3:151818301..197845254 [GRCh37]
Chr3:153300991..199329651 [NCBI36]
Chr3:3q25.1-29		 pathogenic
GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3 copy number gain See cases [RCV000140849] Chr3:156321878..198113452 [GRCh38]
Chr3:156039667..197840323 [GRCh37]
Chr3:157522361..199324720 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197612399)x1 copy number loss See cases [RCV000141008] Chr3:196013486..197612399 [GRCh38]
Chr3:195740357..197339270 [GRCh37]
Chr3:197224754..198823667 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:195998419-197629463)x3 copy number gain See cases [RCV000141750] Chr3:195998419..197629463 [GRCh38]
Chr3:195725290..197356334 [GRCh37]
Chr3:197209687..198840731 [NCBI36]
Chr3:3q29		 conflicting data from submitters
GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3 copy number gain See cases [RCV000142310] Chr3:156118441..198125115 [GRCh38]
Chr3:155836230..197851986 [GRCh37]
Chr3:157318924..199336383 [NCBI36]
Chr3:3q25.31-29		 pathogenic
GRCh38/hg38 3q29(chr3:195976744-197629463)x1 copy number loss See cases [RCV000142155] Chr3:195976744..197629463 [GRCh38]
Chr3:195703615..197356334 [GRCh37]
Chr3:197188012..198840731 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197597912)x1 copy number loss See cases [RCV000143053] Chr3:196013486..197597912 [GRCh38]
Chr3:195740357..197324783 [GRCh37]
Chr3:197224754..198809180 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3 copy number gain See cases [RCV000143694] Chr3:166137209..198125115 [GRCh38]
Chr3:165854997..197851986 [GRCh37]
Chr3:167337691..199336383 [NCBI36]
Chr3:3q26.1-29		 pathogenic
GRCh38/hg38 3q29(chr3:195963356-197629463)x3 copy number gain See cases [RCV000143489] Chr3:195963356..197629463 [GRCh38]
Chr3:195690227..197356334 [GRCh37]
Chr3:197174624..198840731 [NCBI36]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:193704605-198125115)x3 copy number gain See cases [RCV000143501] Chr3:193704605..198125115 [GRCh38]
Chr3:193422394..197851986 [GRCh37]
Chr3:194905088..199336383 [NCBI36]
Chr3:3q29		 pathogenic
GRCh38/hg38 3q29(chr3:196013486-197590232)x1 copy number loss See cases [RCV000148130] Chr3:196013486..197590232 [GRCh38]
Chr3:195740357..197317103 [GRCh37]
Chr3:197224754..198801500 [NCBI36]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195690241-197299811)x1 copy number loss See cases [RCV000240193] Chr3:195690241..197299811 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195756054-197344665)x1 copy number loss Chromosome 3q29 microdeletion syndrome [RCV000258006] Chr3:195756054..197344665 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195780280-197299752)x1 copy number loss See cases [RCV000449089] Chr3:195780280..197299752 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195739427-197356334)x3 copy number gain See cases [RCV000449371] Chr3:195739427..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3 copy number gain See cases [RCV000447464] Chr3:158980631..197766890 [GRCh37]
Chr3:3q25.32-29		 pathogenic
GRCh37/hg19 3q29(chr3:195690227-197356334)x1 copy number loss See cases [RCV000446216] Chr3:195690227..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q26.33-29(chr3:181911498-197851986)x4 copy number gain See cases [RCV000446732] Chr3:181911498..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q29(chr3:195780280-196264407)x3 copy number gain See cases [RCV000445896] Chr3:195780280..196264407 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3 copy number gain See cases [RCV000448608] Chr3:152356847..197851986 [GRCh37]
Chr3:3q25.2-29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197344176)x1 copy number loss See cases [RCV000449002] Chr3:195725290..197344176 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195456034-197851986)x3 copy number gain See cases [RCV000448647] Chr3:195456034..197851986 [GRCh37]
Chr3:3q29		 pathogenic
NC_000003.12:g.(?_196011149)_(197606127_?)del deletion Schizophrenia [RCV000416880] Chr3:196011149..197606127 [GRCh38]
Chr3:195738020..197332998 [GRCh37]
Chr3:197222417..198817395 [NCBI36]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197356334)x1 copy number loss See cases [RCV000447960] Chr3:195725290..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195677309-197356334)x3 copy number gain See cases [RCV000512079] Chr3:195677309..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195690227-197356334)x1 copy number loss See cases [RCV000511943] Chr3:195690227..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197344176)x1 copy number loss See cases [RCV000510774] Chr3:195725290..197344176 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q29(chr3:195456034-197356334)x3 copy number gain See cases [RCV000512582] Chr3:195456034..197356334 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3 copy number gain not provided [RCV000682339] Chr3:184003967..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3 copy number gain not provided [RCV000682336] Chr3:182539234..197851986 [GRCh37]
Chr3:3q26.33-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3 copy number gain not provided [RCV000682344] Chr3:187913567..197851986 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3 copy number gain not provided [RCV000682346] Chr3:191593619..197851986 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:195703615-197348575)x1 copy number loss not provided [RCV000682353] Chr3:195703615..197348575 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195703615-197356334)x3 copy number gain not provided [RCV000682354] Chr3:195703615..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197015654)x1 copy number loss not provided [RCV000682355] Chr3:195725290..197015654 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197339848)x3 copy number gain not provided [RCV000682356] Chr3:195725290..197339848 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725290-197356334)x3 copy number gain not provided [RCV000682357] Chr3:195725290..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3 copy number gain not provided [RCV000682341] Chr3:186374365..197851986 [GRCh37]
Chr3:3q27.3-29		 pathogenic
GRCh37/hg19 3q29(chr3:195891339-196137752)x1 copy number loss not provided [RCV000682358] Chr3:195891339..196137752 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
Single allele duplication Autism [RCV000754277] Chr3:195939900..197632041 [GRCh38]
Chr3:3q29		 likely pathogenic
NC_000003.12:g.(?_195990063)_(197617301_?)del deletion Schizophrenia [RCV000754278] Chr3:195990063..197617301 [GRCh38]
Chr3:3q29		 pathogenic
NC_000003.12:g.(?_196154147)_(197376501_?)del deletion Schizophrenia [RCV000754279] Chr3:196154147..197376501 [GRCh38]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:173281266-197838262)x3 copy number gain not provided [RCV000742968] Chr3:173281266..197838262 [GRCh37]
Chr3:3q26.31-29		 pathogenic
GRCh37/hg19 3q27.3-29(chr3:186374671-197838262)x3 copy number gain not provided [RCV000743037] Chr3:186374671..197838262 [GRCh37]
Chr3:3q27.3-29		 pathogenic
GRCh37/hg19 3q28-29(chr3:189101446-197838262)x1 copy number loss not provided [RCV000743049] Chr3:189101446..197838262 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:195677895-197346971)x3 copy number gain not provided [RCV000743106] Chr3:195677895..197346971 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195725402-197386693)x1 copy number loss not provided [RCV000743108] Chr3:195725402..197386693 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195738406-197346566)x3 copy number gain not provided [RCV000743109] Chr3:195738406..197346566 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195778594-196278366)x3 copy number gain not provided [RCV000743113] Chr3:195778594..196278366 [GRCh37]
Chr3:3q29		 benign
GRCh37/hg19 3q29(chr3:195949640-195950541)x0 copy number loss not provided [RCV000743114] Chr3:195949640..195950541 [GRCh37]
Chr3:3q29		 benign
NC_000003.12:g.(?_196229915)_(196291374_?)dup duplication not provided [RCV001031224] Chr3:195956786..196018245 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3 copy number gain See cases [RCV000790566] Chr3:188386566..197838262 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:195700698-197386180)x3 copy number gain not provided [RCV000846898] Chr3:195700698..197386180 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195701149-197348561)x3 copy number gain not provided [RCV000846762] Chr3:195701149..197348561 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195573221-196124278)x3 copy number gain not provided [RCV000847985] Chr3:195573221..196124278 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195279196-196022437)x3 copy number gain not provided [RCV000846857] Chr3:195279196..196022437 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152672.6(SLC51A):c.556C>T (p.Gln186Ter) single nucleotide variant Cholestasis, progressive familial intrahepatic, 6 [RCV001563712] Chr3:196228843 [GRCh38]
Chr3:195955714 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1 copy number loss 3q28q29 deletion syndrome [RCV001786535] Chr3:189608636..197532175 [GRCh37]
Chr3:3q28-29		 pathogenic
NM_152672.6(SLC51A):c.90C>T (p.Ser30=) single nucleotide variant not provided [RCV000964952] Chr3:196217893 [GRCh38]
Chr3:195944764 [GRCh37]
Chr3:3q29		 benign
GRCh37/hg19 3q29(chr3:195848341-196426606)x3 copy number gain not provided [RCV001005502] Chr3:195848341..196426606 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195796048-196145269)x3 copy number gain not provided [RCV001005501] Chr3:195796048..196145269 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195652973-197346971)x1 copy number loss See cases [RCV001007436] Chr3:195652973..197346971 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195068028-197851986)x3 copy number gain not provided [RCV001259831] Chr3:195068028..197851986 [GRCh37]
Chr3:3q29		 pathogenic
NC_000003.11:g.(?_195925166)_(196083717_?)dup duplication not provided [RCV001315261] Chr3:195925166..196083717 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195419168-197387258) copy number gain Atypical behavior [RCV001291957] Chr3:195419168..197387258 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195747856-197387258) copy number gain Motor delay [RCV001291947] Chr3:195747856..197387258 [GRCh37]
Chr3:3q29		 pathogenic
NC_000003.11:g.(?_195754030)_(196438852_?)dup duplication not provided [RCV001314246] Chr3:195754030..196438852 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:194498718-196196789)x1 copy number loss not provided [RCV001270643] Chr3:194498718..196196789 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195693872-197376871)x3 copy number gain See cases [RCV001526486] Chr3:195693872..197376871 [GRCh37]
Chr3:3q29		 risk factor
Single allele deletion Chromosome 3q29 microdeletion syndrome [RCV002247703] Chr3:195833012..197340883 [GRCh38]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1 copy number loss not provided [RCV001795848] Chr3:191866466..197842171 [GRCh37]
Chr3:3q28-29		 pathogenic
GRCh37/hg19 3q29(chr3:194790394-197961930)x3 copy number gain Chromosome 3q29 microdeletion syndrome [RCV001801188] Chr3:194790394..197961930 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195914129-196804639)x1 copy number loss not provided [RCV001827937] Chr3:195914129..196804639 [GRCh37]
Chr3:3q29		 pathogenic
NM_152672.6(SLC51A):c.437G>A (p.Arg146Lys) single nucleotide variant Cholestasis, progressive familial intrahepatic, 6 [RCV003148136] Chr3:196228189 [GRCh38]
Chr3:195955060 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195703615-197386180) copy number loss Chromosome 3q29 microdeletion syndrome [RCV002280743] Chr3:195703615..197386180 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3 copy number gain Isolated anorectal malformation [RCV002286610] Chr3:171558472..197871052 [GRCh37]
Chr3:3q26.31-29		 likely pathogenic
GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3 copy number gain See cases [RCV002286344] Chr3:183498520..197851986 [GRCh37]
Chr3:3q27.1-29		 pathogenic
GRCh37/hg19 3q29(chr3:195690228-197356334)x1 copy number loss not provided [RCV002474511] Chr3:195690228..197356334 [GRCh37]
Chr3:3q29		 pathogenic
GRCh37/hg19 3q29(chr3:195790857-196543483)x1 copy number loss not provided [RCV002475616] Chr3:195790857..196543483 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh37/hg19 3q29(chr3:195725291-195968808)x3 copy number gain not provided [RCV002475764] Chr3:195725291..195968808 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152672.6(SLC51A):c.217G>A (p.Val73Ile) single nucleotide variant Inborn genetic diseases [RCV002981787] Chr3:196227048 [GRCh38]
Chr3:195953919 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152672.6(SLC51A):c.269G>C (p.Trp90Ser) single nucleotide variant Inborn genetic diseases [RCV002694475] Chr3:196227100 [GRCh38]
Chr3:195953971 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152672.6(SLC51A):c.15G>C (p.Arg5Ser) single nucleotide variant Inborn genetic diseases [RCV002844880] Chr3:196216727 [GRCh38]
Chr3:195943598 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152672.6(SLC51A):c.506G>A (p.Arg169Gln) single nucleotide variant Inborn genetic diseases [RCV003001065] Chr3:196228258 [GRCh38]
Chr3:195955129 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152672.6(SLC51A):c.586C>G (p.Leu196Val) single nucleotide variant Inborn genetic diseases [RCV002964184] Chr3:196228873 [GRCh38]
Chr3:195955744 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152672.6(SLC51A):c.671T>G (p.Phe224Cys) single nucleotide variant Inborn genetic diseases [RCV002677783] Chr3:196229952 [GRCh38]
Chr3:195956823 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152672.6(SLC51A):c.151C>A (p.Leu51Ile) single nucleotide variant Inborn genetic diseases [RCV002724304] Chr3:196226982 [GRCh38]
Chr3:195953853 [GRCh37]
Chr3:3q29		 likely benign
NC_000003.11:g.(?_195591052)_(197682644_?)dup duplication not provided [RCV003154915] Chr3:195591052..197682644 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152672.6(SLC51A):c.8C>G (p.Pro3Arg) single nucleotide variant Inborn genetic diseases [RCV003197102] Chr3:196216720 [GRCh38]
Chr3:195943591 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152672.6(SLC51A):c.1012C>G (p.Leu338Val) single nucleotide variant Inborn genetic diseases [RCV003189019] Chr3:196233188 [GRCh38]
Chr3:195960059 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152672.6(SLC51A):c.257G>C (p.Arg86Pro) single nucleotide variant Inborn genetic diseases [RCV003189528] Chr3:196227088 [GRCh38]
Chr3:195953959 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152672.6(SLC51A):c.348A>T (p.Glu116Asp) single nucleotide variant Inborn genetic diseases [RCV003215177] Chr3:196227723 [GRCh38]
Chr3:195954594 [GRCh37]
Chr3:3q29		 uncertain significance
GRCh38/hg38 3q29(chr3:195950438-197629463) copy number loss See cases [RCV003223585] Chr3:195950438..197629463 [GRCh38]
Chr3:3q29		 pathogenic
NM_152672.6(SLC51A):c.373G>A (p.Val125Met) single nucleotide variant Inborn genetic diseases [RCV003378334] Chr3:196228125 [GRCh38]
Chr3:195954996 [GRCh37]
Chr3:3q29		 uncertain significance
Single allele duplication not provided [RCV003448680] Chr3:140154329..197847235 [GRCh37]
Chr3:3q23-29		 pathogenic
NM_152672.6(SLC51A):c.420G>T (p.Gly140=) single nucleotide variant SLC51A-related condition [RCV003408595] Chr3:196228172 [GRCh38]
Chr3:195955043 [GRCh37]
Chr3:3q29		 uncertain significance
Single allele duplication not provided [RCV003448704] Chr3:176412210..197847235 [GRCh37]
Chr3:3q26.32-29		 pathogenic
NM_152672.6(SLC51A):c.562G>A (p.Ala188Thr) single nucleotide variant SLC51A-related condition [RCV003392846] Chr3:196228849 [GRCh38]
Chr3:195955720 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152672.6(SLC51A):c.757G>C (p.Gly253Arg) single nucleotide variant SLC51A-related condition [RCV003941640] Chr3:196230038 [GRCh38]
Chr3:195956909 [GRCh37]
Chr3:3q29		 likely benign
GRCh37/hg19 3q29(chr3:195792450-196145838)x3 copy number gain not specified [RCV003986412] Chr3:195792450..196145838 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152672.6(SLC51A):c.-1G>A single nucleotide variant SLC51A-related condition [RCV003949577] Chr3:196216712 [GRCh38]
Chr3:195943583 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.308G>C (p.Cys103Ser) single nucleotide variant SLC51A-related condition [RCV003949745] Chr3:196227683 [GRCh38]
Chr3:195954554 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.124C>T (p.Leu42Phe) single nucleotide variant SLC51A-related condition [RCV003896423] Chr3:196217927 [GRCh38]
Chr3:195944798 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152672.6(SLC51A):c.633+8G>A single nucleotide variant SLC51A-related condition [RCV003917135] Chr3:196228928 [GRCh38]
Chr3:195955799 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.675T>C (p.Leu225=) single nucleotide variant SLC51A-related condition [RCV003982429] Chr3:196229956 [GRCh38]
Chr3:195956827 [GRCh37]
Chr3:3q29		 benign
NM_152672.6(SLC51A):c.138G>T (p.Leu46=) single nucleotide variant SLC51A-related condition [RCV003956704] Chr3:196226969 [GRCh38]
Chr3:195953840 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.363-9C>T single nucleotide variant SLC51A-related condition [RCV003921694] Chr3:196228106 [GRCh38]
Chr3:195954977 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.134-4C>T single nucleotide variant SLC51A-related condition [RCV003958952] Chr3:196226961 [GRCh38]
Chr3:195953832 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.-6G>A single nucleotide variant SLC51A-related condition [RCV003969148] Chr3:196216707 [GRCh38]
Chr3:195943578 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.134-8T>C single nucleotide variant SLC51A-related condition [RCV003966915] Chr3:196226957 [GRCh38]
Chr3:195953828 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.722G>A (p.Arg241His) single nucleotide variant SLC51A-related condition [RCV003921511] Chr3:196230003 [GRCh38]
Chr3:195956874 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.781-5C>T single nucleotide variant SLC51A-related condition [RCV003967165] Chr3:196232414 [GRCh38]
Chr3:195959285 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.814A>G (p.Ile272Val) single nucleotide variant SLC51A-related condition [RCV003931587] Chr3:196232452 [GRCh38]
Chr3:195959323 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.78C>T (p.Tyr26=) single nucleotide variant SLC51A-related condition [RCV003899212] Chr3:196217881 [GRCh38]
Chr3:195944752 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.634-8G>T single nucleotide variant SLC51A-related condition [RCV003899349] Chr3:196229907 [GRCh38]
Chr3:195956778 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.7C>T (p.Pro3Ser) single nucleotide variant SLC51A-related condition [RCV003907110] Chr3:196216719 [GRCh38]
Chr3:195943590 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.9G>A (p.Pro3=) single nucleotide variant SLC51A-related condition [RCV003966851] Chr3:196216721 [GRCh38]
Chr3:195943592 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.135C>T (p.Ala45=) single nucleotide variant SLC51A-related condition [RCV003929534] Chr3:196226966 [GRCh38]
Chr3:195953837 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.904C>T (p.Leu302Phe) single nucleotide variant SLC51A-related condition [RCV003922287] Chr3:196233080 [GRCh38]
Chr3:195959951 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.655C>T (p.Leu219=) single nucleotide variant SLC51A-related condition [RCV003959159] Chr3:196229936 [GRCh38]
Chr3:195956807 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.372C>T (p.Ala124=) single nucleotide variant SLC51A-related condition [RCV003952162] Chr3:196228124 [GRCh38]
Chr3:195954995 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.604G>A (p.Val202Ile) single nucleotide variant SLC51A-related condition [RCV003979853] Chr3:196228891 [GRCh38]
Chr3:195955762 [GRCh37]
Chr3:3q29		 benign
NM_152672.6(SLC51A):c.887-10T>C single nucleotide variant SLC51A-related condition [RCV003984644] Chr3:196233053 [GRCh38]
Chr3:195959924 [GRCh37]
Chr3:3q29		 benign
NM_152672.6(SLC51A):c.741G>A (p.Leu247=) single nucleotide variant SLC51A-related condition [RCV003959519] Chr3:196230022 [GRCh38]
Chr3:195956893 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.522-10C>T single nucleotide variant SLC51A-related condition [RCV003959019] Chr3:196228799 [GRCh38]
Chr3:195955670 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.609C>T (p.Pro203=) single nucleotide variant SLC51A-related condition [RCV003959813] Chr3:196228896 [GRCh38]
Chr3:195955767 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.522-7C>T single nucleotide variant SLC51A-related condition [RCV003982583] Chr3:196228802 [GRCh38]
Chr3:195955673 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.839G>A (p.Gly280Glu) single nucleotide variant SLC51A-related condition [RCV003969622] Chr3:196232477 [GRCh38]
Chr3:195959348 [GRCh37]
Chr3:3q29		 uncertain significance
NM_152672.6(SLC51A):c.134-12CTC[4] microsatellite SLC51A-related condition [RCV003893772] Chr3:196226952..196226953 [GRCh38]
Chr3:195953823..195953824 [GRCh37]
Chr3:3q29		 likely benign
NM_152672.6(SLC51A):c.603C>T (p.Leu201=) single nucleotide variant SLC51A-related condition [RCV003894154] Chr3:196228890 [GRCh38]
Chr3:195955761 [GRCh37]
Chr3:3q29		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2691
Count of miRNA genes:1004
Interacting mature miRNAs:1202
Transcripts:ENST00000296327, ENST00000415111, ENST00000416660, ENST00000428985, ENST00000442203, ENST00000471430, ENST00000472653, ENST00000475271, ENST00000475672, ENST00000476129, ENST00000479732, ENST00000484407, ENST00000492794, ENST00000496737
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.

Markers in Region
SGC33919  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373195,960,141 - 195,960,268UniSTSGRCh37
Build 363197,444,538 - 197,444,665RGDNCBI36
Celera3194,541,777 - 194,541,904RGD
Cytogenetic Map3q29UniSTS
HuRef3193,259,856 - 193,259,983UniSTS
GeneMap99-GB4 RH Map3726.38UniSTS
Whitehead-RH Map3881.3UniSTS
NCBI RH Map31992.4UniSTS
SHGC-77670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh373195,960,053 - 195,960,196UniSTSGRCh37
Build 363197,444,450 - 197,444,593RGDNCBI36
Celera3194,541,689 - 194,541,832RGD
Cytogenetic Map3q29UniSTS
HuRef3193,259,768 - 193,259,911UniSTS
TNG Radiation Hybrid Map3107863.0UniSTS
GeneMap99-GB4 RH Map3726.38UniSTS
NCBI RH Map31987.6UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 230 178 377 322 285 322 6 133 10
Low 2152 2672 1325 291 1515 129 4307 2038 3108 381 1277 1519 169 1204 2767 1
Below cutoff 46 134 16 7 125 11 43 144 590 22 32 49 2 1 21 3

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000296327   ⟹   ENSP00000296327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,216,534 - 196,233,427 (+)Ensembl
RefSeq Acc Id: ENST00000415111   ⟹   ENSP00000409560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,230,005 - 196,243,178 (+)Ensembl
RefSeq Acc Id: ENST00000416660   ⟹   ENSP00000405414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,211,487 - 196,217,870 (+)Ensembl
RefSeq Acc Id: ENST00000428985   ⟹   ENSP00000413951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,217,892 - 196,228,885 (+)Ensembl
RefSeq Acc Id: ENST00000442203   ⟹   ENSP00000391172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,216,534 - 196,227,031 (+)Ensembl
RefSeq Acc Id: ENST00000471430
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,228,621 - 196,230,063 (+)Ensembl
RefSeq Acc Id: ENST00000472653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,216,535 - 196,227,565 (+)Ensembl
RefSeq Acc Id: ENST00000475271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,228,079 - 196,233,380 (+)Ensembl
RefSeq Acc Id: ENST00000475672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,227,524 - 196,232,994 (+)Ensembl
RefSeq Acc Id: ENST00000476129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,226,516 - 196,227,483 (+)Ensembl
RefSeq Acc Id: ENST00000479732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,233,450 - 196,237,653 (+)Ensembl
RefSeq Acc Id: ENST00000484407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,227,941 - 196,233,430 (+)Ensembl
RefSeq Acc Id: ENST00000492794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,232,404 - 196,233,423 (+)Ensembl
RefSeq Acc Id: ENST00000496737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3196,233,147 - 196,240,880 (+)Ensembl
RefSeq Acc Id: NM_152672   ⟹   NP_689885
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,216,534 - 196,233,427 (+)NCBI
GRCh373195,943,383 - 195,960,301 (+)RGD
Build 363197,427,780 - 197,444,698 (+)NCBI Archive
Celera3194,523,852 - 194,541,937 (+)RGD
HuRef3193,243,225 - 193,260,016 (+)RGD
CHM1_13195,914,213 - 195,931,131 (+)NCBI
T2T-CHM13v2.03198,936,009 - 198,952,903 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047447662   ⟹   XP_047303618
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383196,225,729 - 196,233,427 (+)NCBI
RefSeq Acc Id: XM_054345629   ⟹   XP_054201604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.03198,945,204 - 198,952,903 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_689885   ⟸   NM_152672
- UniProtKB: Q6ZMC7 (UniProtKB/Swiss-Prot),   Q86UW1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000413951   ⟸   ENST00000428985
RefSeq Acc Id: ENSP00000296327   ⟸   ENST00000296327
RefSeq Acc Id: ENSP00000409560   ⟸   ENST00000415111
RefSeq Acc Id: ENSP00000405414   ⟸   ENST00000416660
RefSeq Acc Id: ENSP00000391172   ⟸   ENST00000442203
RefSeq Acc Id: XP_047303618   ⟸   XM_047447662
- Peptide Label: isoform X1
- UniProtKB: I6L9A1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054201604   ⟸   XM_054345629
- Peptide Label: isoform X1
- UniProtKB: I6L9A1 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86UW1-F1-model_v2 AlphaFold Q86UW1 1-340 view protein structure

Promoters
RGD ID:6866680
Promoter ID:EPDNEW_H6504
Type:initiation region
Name:SLC51A_1
Description:solute carrier family 51 alpha subunit
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
GRCh383196,216,534 - 196,216,594EPDNEW
RGD ID:6801384
Promoter ID:HG_KWN:47461
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000341265
Position:
Human AssemblyChrPosition (strand)Source
Build 363197,443,441 - 197,443,941 (+)MPROMDB
RGD ID:6801379
Promoter ID:HG_KWN:47462
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000341263,   OTTHUMT00000341266
Position:
Human AssemblyChrPosition (strand)Source
Build 363197,443,861 - 197,444,361 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29955 AgrOrtholog
COSMIC SLC51A COSMIC
Ensembl Genes ENSG00000163959 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000296327 ENTREZGENE
  ENST00000296327.10 UniProtKB/Swiss-Prot
  ENST00000415111.1 UniProtKB/TrEMBL
  ENST00000416660.1 UniProtKB/TrEMBL
  ENST00000428985.1 UniProtKB/TrEMBL
  ENST00000442203.1 UniProtKB/TrEMBL
GTEx ENSG00000163959 GTEx
HGNC ID HGNC:29955 ENTREZGENE
Human Proteome Map SLC51A Human Proteome Map
InterPro Ostalpha/TMEM184C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:200931 UniProtKB/Swiss-Prot
NCBI Gene 200931 ENTREZGENE
OMIM 612084 OMIM
PANTHER ORGANIC SOLUTE TRANSPORTER SUBUNIT ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ORGANIC SOLUTE TRANSPORTER-RELATED UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
Pfam Solute_trans_a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA166048991 PharmGKB
SMART Solute_trans_a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt C9J2I5_HUMAN UniProtKB/TrEMBL
  F8WBV2_HUMAN UniProtKB/TrEMBL
  H7C351_HUMAN UniProtKB/TrEMBL
  H7C3V2_HUMAN UniProtKB/TrEMBL
  I6L9A1 ENTREZGENE, UniProtKB/TrEMBL
  OSTA_HUMAN UniProtKB/Swiss-Prot
  Q6ZMC7 ENTREZGENE
  Q86UW1 ENTREZGENE
UniProt Secondary Q6ZMC7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-09-18 SLC51A  solute carrier family 51 member A  SLC51A  solute carrier family 51 subunit alpha  Symbol and/or name change 19259463 PROVISIONAL
2019-12-03 SLC51A  solute carrier family 51 subunit alpha  SLC51A  solute carrier family 51 alpha subunit  Symbol and/or name change 5135510 APPROVED
2015-12-15 SLC51A  solute carrier family 51 alpha subunit    solute carrier family 51, alpha subunit  Symbol and/or name change 5135510 APPROVED
2012-08-14 SLC51A  solute carrier family 51, alpha subunit  OSTalpha  organic solute transporter alpha  Symbol and/or name change 5135510 APPROVED