BLOC1S3 (biogenesis of lysosomal organelles complex 1 subunit 3) - Rat Genome Database

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Gene: BLOC1S3 (biogenesis of lysosomal organelles complex 1 subunit 3) Homo sapiens
Analyze
Symbol: BLOC1S3
Name: biogenesis of lysosomal organelles complex 1 subunit 3
RGD ID: 1321173
HGNC Page HGNC:20914
Description: Predicted to enable protein transmembrane transporter activity. Involved in several processes, including endosome to melanosome transport; melanosome transport; and platelet activation. Located in transport vesicle. Part of BLOC-1 complex. Implicated in Hermansky-Pudlak syndrome 8.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: biogenesis of lysosomal organelles complex-1, subunit 3; biogenesis of lysosome-related organelles complex 1 subunit 3; biogenesis of lysosome-related organelles complex-1, subunit 3; BLOC-1 subunit 3; BLOS3; FLJ26641; FLJ26676; HPS8; reduced pigmentation, mouse, homolog of; RP
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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
GRCh381945,178,784 - 45,217,083 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1945,178,784 - 45,216,933 (+)EnsemblGRCh38hg38GRCh38
GRCh371945,682,042 - 45,685,058 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361950,373,891 - 50,375,003 (+)NCBINCBI36Build 36hg18NCBI36
Build 341950,374,394 - 50,375,003NCBI
Celera1942,486,265 - 42,489,320 (+)NCBICelera
Cytogenetic Map19q13.32NCBI
HuRef1942,112,149 - 42,115,204 (+)NCBIHuRef
CHM1_11945,685,293 - 45,688,348 (+)NCBICHM1_1
T2T-CHM13v2.01948,003,901 - 48,043,728 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
axon cytoplasm  (IEA)
BLOC-1 complex  (IBA,IDA,IEA,IPI)
cytoplasm  (IEA)
cytosol  (IEA,TAS)
transport vesicle  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:11031247   PMID:11252894   PMID:12191018   PMID:12477932   PMID:12576321   PMID:12923531   PMID:15102850   PMID:16385460   PMID:17081983   PMID:17182842   PMID:19197348   PMID:20301464  
PMID:20460622   PMID:21873635   PMID:22203680   PMID:22709368   PMID:26186194   PMID:26673895   PMID:27173435   PMID:28514442   PMID:29117863   PMID:30387913   PMID:32572027   PMID:32687635  
PMID:33961781   PMID:34369648   PMID:35944360   PMID:37120454  


Genomics

Comparative Map Data
BLOC1S3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381945,178,784 - 45,217,083 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1945,178,784 - 45,216,933 (+)EnsemblGRCh38hg38GRCh38
GRCh371945,682,042 - 45,685,058 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361950,373,891 - 50,375,003 (+)NCBINCBI36Build 36hg18NCBI36
Build 341950,374,394 - 50,375,003NCBI
Celera1942,486,265 - 42,489,320 (+)NCBICelera
Cytogenetic Map19q13.32NCBI
HuRef1942,112,149 - 42,115,204 (+)NCBIHuRef
CHM1_11945,685,293 - 45,688,348 (+)NCBICHM1_1
T2T-CHM13v2.01948,003,901 - 48,043,728 (+)NCBIT2T-CHM13v2.0
Bloc1s3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39719,239,708 - 19,242,295 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl719,238,411 - 19,242,292 (-)EnsemblGRCm39 Ensembl
GRCm38719,505,783 - 19,508,380 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl719,504,486 - 19,508,367 (-)EnsemblGRCm38mm10GRCm38
MGSCv37720,091,153 - 20,093,680 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36718,664,326 - 18,666,853 (-)NCBIMGSCv36mm8
Celera716,911,731 - 16,914,258 (-)NCBICelera
Cytogenetic Map7A3NCBI
cM Map79.92NCBI
Bloc1s3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8188,283,864 - 88,286,244 (-)NCBIGRCr8
mRatBN7.2179,155,873 - 79,158,247 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl179,155,693 - 79,158,505 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx184,544,282 - 84,546,657 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0193,102,358 - 93,104,733 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0186,299,386 - 86,301,761 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0180,414,766 - 80,417,385 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl180,415,686 - 80,416,273 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0181,680,787 - 81,683,351 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4178,859,459 - 78,861,218 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera173,615,424 - 73,618,043 (-)NCBICelera
Cytogenetic Map1q21NCBI
Bloc1s3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555552,184,490 - 2,185,138 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555552,183,752 - 2,186,154 (+)NCBIChiLan1.0ChiLan1.0
BLOC1S3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22051,312,338 - 51,340,776 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11953,184,333 - 53,212,207 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01942,100,227 - 42,128,636 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
BLOC1S3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11110,325,351 - 110,328,226 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1110,326,843 - 110,327,442 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1109,807,262 - 109,810,176 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01110,855,669 - 110,858,583 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1110,857,161 - 110,857,760 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11110,531,263 - 110,534,175 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01110,165,890 - 110,168,810 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01111,035,068 - 111,037,994 (-)NCBIUU_Cfam_GSD_1.0
Bloc1s3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934917,354,791 - 17,357,023 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367061,684,824 - 1,706,544 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367061,702,154 - 1,704,366 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BLOC1S3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl651,590,497 - 51,591,222 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1651,590,497 - 51,591,222 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
BLOC1S3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1638,623,639 - 38,642,217 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl638,639,659 - 38,640,261 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607318,225,491 - 18,258,815 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in BLOC1S3
215 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_212550.5(BLOC1S3):c.448del (p.Gln150fs) deletion Hermansky-Pudlak syndrome 8 [RCV000001554] Chr19:45179742 [GRCh38]
Chr19:45683000 [GRCh37]
Chr19:19q13.32		 pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3 copy number gain See cases [RCV000136578] Chr19:44971420..48257402 [GRCh38]
Chr19:45474677..48760659 [GRCh37]
Chr19:50166517..53452471 [NCBI36]
Chr19:19q13.32-13.33		 pathogenic
NM_212550.5(BLOC1S3):c.366C>T (p.His122=) single nucleotide variant not provided [RCV001515240]|not specified [RCV000150192] Chr19:45179662 [GRCh38]
Chr19:45682920 [GRCh37]
Chr19:19q13.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_212550.5(BLOC1S3):c.270G>A (p.Ala90=) single nucleotide variant Hermansky-Pudlak syndrome 8 [RCV001554235]|not provided [RCV001519342]|not specified [RCV000150190] Chr19:45179566 [GRCh38]
Chr19:45682824 [GRCh37]
Chr19:19q13.32		 benign|likely benign
NM_212550.5(BLOC1S3):c.92C>T (p.Ala31Val) single nucleotide variant BLOC1S3-related condition [RCV003407580]|Inborn genetic diseases [RCV003298166]|not provided [RCV001850128]|not specified [RCV000155464] Chr19:45179388 [GRCh38]
Chr19:45682646 [GRCh37]
Chr19:19q13.32		 likely benign|uncertain significance
NM_212550.5(BLOC1S3):c.322C>G (p.Leu108Val) single nucleotide variant not provided [RCV001514103]|not specified [RCV000156747] Chr19:45179618 [GRCh38]
Chr19:45682876 [GRCh37]
Chr19:19q13.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_212550.5(BLOC1S3):c.609G>A (p.Ter203=) single nucleotide variant not provided [RCV000958019]|not specified [RCV000176017] Chr19:45179905 [GRCh38]
Chr19:45683163 [GRCh37]
Chr19:19q13.32		 benign
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1 copy number loss See cases [RCV000240182] Chr19:43013365..47241534 [GRCh37]
Chr19:19q13.2-13.32		 pathogenic
NM_212550.5(BLOC1S3):c.478G>T (p.Val160Leu) single nucleotide variant BLOC1S3-related condition [RCV003930183]|not provided [RCV000430386]|not specified [RCV000314918] Chr19:45179774 [GRCh38]
Chr19:45683032 [GRCh37]
Chr19:19q13.32		 likely benign|uncertain significance
GRCh37/hg19 19q13.32(chr19:45284576-45978239)x3 copy number gain See cases [RCV000239782] Chr19:45284576..45978239 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.144C>A (p.Arg48=) single nucleotide variant not provided [RCV001518193]|not specified [RCV000217225] Chr19:45179440 [GRCh38]
Chr19:45682698 [GRCh37]
Chr19:19q13.32		 benign|likely benign
NM_212550.5(BLOC1S3):c.339G>A (p.Leu113=) single nucleotide variant not provided [RCV000950490]|not specified [RCV000222251] Chr19:45179635 [GRCh38]
Chr19:45682893 [GRCh37]
Chr19:19q13.32		 benign|uncertain significance
NM_212550.5(BLOC1S3):c.131C>A (p.Ser44Ter) single nucleotide variant Hermansky-Pudlak syndrome 8 [RCV000496227] Chr19:45179427 [GRCh38]
Chr19:45682685 [GRCh37]
Chr19:19q13.32		 pathogenic
NM_212550.4(BLOC1S3):c.*1086G>A single nucleotide variant Hermansky-Pudlak syndrome [RCV000303450] Chr19:45180991 [GRCh38]
Chr19:45684249 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.4(BLOC1S3):c.*331T>A single nucleotide variant Hermansky-Pudlak syndrome [RCV000291137] Chr19:45180236 [GRCh38]
Chr19:45683494 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.*155_*156insAA insertion Hermansky-Pudlak syndrome [RCV000292164] Chr19:45180060..45180061 [GRCh38]
Chr19:45683318..45683319 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.4(BLOC1S3):c.*1746C>G single nucleotide variant Hermansky-Pudlak syndrome [RCV000276404] Chr19:45181651 [GRCh38]
Chr19:45684909 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.4(BLOC1S3):c.*1471C>T single nucleotide variant Hermansky-Pudlak syndrome [RCV000297455] Chr19:45181376 [GRCh38]
Chr19:45684634 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.4(BLOC1S3):c.*1286T>C single nucleotide variant Hermansky-Pudlak syndrome [RCV000263388] Chr19:45181191 [GRCh38]
Chr19:45684449 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.4(BLOC1S3):c.6G>T (p.Ala2=) single nucleotide variant Hermansky-Pudlak syndrome [RCV000366247] Chr19:45179302 [GRCh38]
Chr19:45682560 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.4(BLOC1S3):c.*1700G>A single nucleotide variant Hermansky-Pudlak syndrome [RCV000354764] Chr19:45181605 [GRCh38]
Chr19:45684863 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.4(BLOC1S3):c.*389G>A single nucleotide variant Hermansky-Pudlak syndrome [RCV000343758] Chr19:45180294 [GRCh38]
Chr19:45683552 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.-7C>G single nucleotide variant not specified [RCV000500495] Chr19:45179290 [GRCh38]
Chr19:45682548 [GRCh37]
Chr19:19q13.32		 benign|uncertain significance
NM_212550.4(BLOC1S3):c.*1869G>A single nucleotide variant Hermansky-Pudlak syndrome [RCV000330056] Chr19:45181774 [GRCh38]
Chr19:45685032 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.*285T>A single nucleotide variant not provided [RCV001689322] Chr19:45180190 [GRCh38]
Chr19:45683448 [GRCh37]
Chr19:19q13.32		 benign|likely benign
NM_212550.4(BLOC1S3):c.*31T>C single nucleotide variant Hermansky-Pudlak syndrome [RCV000332974] Chr19:45179936 [GRCh38]
Chr19:45683194 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.4(BLOC1S3):c.*1253C>T single nucleotide variant Hermansky-Pudlak syndrome [RCV000355935] Chr19:45181158 [GRCh38]
Chr19:45684416 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.4(BLOC1S3):c.*426C>G single nucleotide variant Hermansky-Pudlak syndrome [RCV000404860] Chr19:45180331 [GRCh38]
Chr19:45683589 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.4(BLOC1S3):c.-73A>C single nucleotide variant Hermansky-Pudlak syndrome [RCV000334490] Chr19:45178768 [GRCh38]
Chr19:45682026 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.17G>A (p.Arg6His) single nucleotide variant not provided [RCV001870617] Chr19:45179313 [GRCh38]
Chr19:45682571 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.4(BLOC1S3):c.*946C>T single nucleotide variant Hermansky-Pudlak syndrome [RCV000405786] Chr19:45180851 [GRCh38]
Chr19:45684109 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.4(BLOC1S3):c.-71G>A single nucleotide variant Hermansky-Pudlak syndrome [RCV000392769] Chr19:45178770 [GRCh38]
Chr19:45682028 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.4(BLOC1S3):c.-57A>T single nucleotide variant Hermansky-Pudlak syndrome [RCV000296513] Chr19:45178784 [GRCh38]
Chr19:45682042 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.205C>T (p.Pro69Ser) single nucleotide variant Inborn genetic diseases [RCV003202140] Chr19:45179501 [GRCh38]
Chr19:45682759 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.507G>A (p.Ala169=) single nucleotide variant not provided [RCV003071940] Chr19:45179803 [GRCh38]
Chr19:45683061 [GRCh37]
Chr19:19q13.32		 benign|uncertain significance
NM_212550.4(BLOC1S3):c.*553A>T single nucleotide variant Hermansky-Pudlak syndrome [RCV000343254] Chr19:45180458 [GRCh38]
Chr19:45683716 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.4(BLOC1S3):c.-10+4C>G single nucleotide variant Hermansky-Pudlak syndrome [RCV000404398] Chr19:45178835 [GRCh38]
Chr19:45682093 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.4(BLOC1S3):c.-42C>T single nucleotide variant Hermansky-Pudlak syndrome [RCV000349042] Chr19:45178799 [GRCh38]
Chr19:45682057 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.234G>A (p.Arg78=) single nucleotide variant not provided [RCV003661609] Chr19:45179530 [GRCh38]
Chr19:45682788 [GRCh37]
Chr19:19q13.32		 likely benign|uncertain significance
NM_212550.4(BLOC1S3):c.*465A>T single nucleotide variant Hermansky-Pudlak syndrome [RCV000304795] Chr19:45180370 [GRCh38]
Chr19:45683628 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.4(BLOC1S3):c.*157A>G single nucleotide variant Hermansky-Pudlak syndrome [RCV000349525] Chr19:45180062 [GRCh38]
Chr19:45683320 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.4(BLOC1S3):c.*69G>A single nucleotide variant Hermansky-Pudlak syndrome [RCV000388875] Chr19:45179974 [GRCh38]
Chr19:45683232 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.4(BLOC1S3):c.*1905T>C single nucleotide variant Hermansky-Pudlak syndrome [RCV000395591] Chr19:45181810 [GRCh38]
Chr19:45685068 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.4(BLOC1S3):c.311C>G (p.Pro104Arg) single nucleotide variant Hermansky-Pudlak syndrome [RCV000359741] Chr19:45179607 [GRCh38]
Chr19:45682865 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.491G>A (p.Arg164His) single nucleotide variant BLOC1S3-related condition [RCV003979885]|not provided [RCV000898345]|not specified [RCV000502035] Chr19:45179787 [GRCh38]
Chr19:45683045 [GRCh37]
Chr19:19q13.32		 benign|likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_212550.5(BLOC1S3):c.13G>A (p.Gly5Ser) single nucleotide variant BLOC1S3-related condition [RCV003970525]|not provided [RCV000925320] Chr19:45179309 [GRCh38]
Chr19:45682567 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.444_467del (p.Gln150_Ala157del) deletion Hermansky-Pudlak syndrome 8 [RCV001089653] Chr19:45179730..45179753 [GRCh38]
Chr19:45682988..45683011 [GRCh37]
Chr19:19q13.32		 pathogenic
NM_001382422.1(EXOC3L2):c.2403G>C (p.Gln801His) single nucleotide variant Inborn genetic diseases [RCV003243879] Chr19:45213075 [GRCh38]
Chr19:45716333 [GRCh37]
Chr19:19q13.32		 uncertain significance
GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3 copy number gain not provided [RCV001007051] Chr19:45531056..48174177 [GRCh37]
Chr19:19q13.32-13.33		 uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42		 pathogenic
NM_212550.5(BLOC1S3):c.433_456dup (p.Arg145_Ala152dup) duplication Hermansky-Pudlak syndrome [RCV000851786] Chr19:45179728..45179729 [GRCh38]
Chr19:45682986..45682987 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2215T>C (p.Ser739Pro) single nucleotide variant not provided [RCV002967486] Chr19:45213263 [GRCh38]
Chr19:45716521 [GRCh37]
Chr19:19q13.32		 benign|likely benign
NM_212550.5(BLOC1S3):c.338_341del (p.Leu113fs) deletion Hermansky-Pudlak syndrome 8 [RCV001257460] Chr19:45179631..45179634 [GRCh38]
Chr19:45682889..45682892 [GRCh37]
Chr19:19q13.32		 pathogenic
NM_212550.5(BLOC1S3):c.385_403del (p.Ser129fs) deletion Hermansky-Pudlak syndrome 8 [RCV001257461] Chr19:45179673..45179691 [GRCh38]
Chr19:45682931..45682949 [GRCh37]
Chr19:19q13.32		 pathogenic
NM_212550.5(BLOC1S3):c.505G>T (p.Ala169Ser) single nucleotide variant Hermansky-Pudlak syndrome 8 [RCV001336199]|not provided [RCV002546766]|not specified [RCV001820031] Chr19:45179801 [GRCh38]
Chr19:45683059 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.589G>C (p.Asp197His) single nucleotide variant not provided [RCV001319892] Chr19:45179885 [GRCh38]
Chr19:45683143 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.101C>A (p.Ser34Ter) single nucleotide variant Hermansky-Pudlak syndrome 8 [RCV001292650] Chr19:45179397 [GRCh38]
Chr19:45682655 [GRCh37]
Chr19:19q13.32		 pathogenic
NM_212550.5(BLOC1S3):c.198GCCGGA[2] (p.66EP[3]) microsatellite not provided [RCV001314920] Chr19:45179490..45179495 [GRCh38]
Chr19:45682748..45682753 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.490C>T (p.Arg164Cys) single nucleotide variant BLOC1S3-related condition [RCV003965934]|not provided [RCV001468442] Chr19:45179786 [GRCh38]
Chr19:45683044 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.415G>T (p.Val139Leu) single nucleotide variant BLOC1S3-related condition [RCV003956354]|not provided [RCV001760886] Chr19:45179711 [GRCh38]
Chr19:45682969 [GRCh37]
Chr19:19q13.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_212550.5(BLOC1S3):c.600G>A (p.Pro200=) single nucleotide variant not provided [RCV002074296]|not specified [RCV001819167] Chr19:45179896 [GRCh38]
Chr19:45683154 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.204_205delinsTT (p.Glu68_Pro69delinsAspSer) indel not provided [RCV002024118] Chr19:45179500..45179501 [GRCh38]
Chr19:45682758..45682759 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.335G>T (p.Arg112Leu) single nucleotide variant Hermansky-Pudlak syndrome 8 [RCV002482626]|Inborn genetic diseases [RCV002552301]|not provided [RCV001914943] Chr19:45179631 [GRCh38]
Chr19:45682889 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.593C>T (p.Pro198Leu) single nucleotide variant not provided [RCV002007084] Chr19:45179889 [GRCh38]
Chr19:45683147 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.56C>T (p.Pro19Leu) single nucleotide variant not provided [RCV002003090] Chr19:45179352 [GRCh38]
Chr19:45682610 [GRCh37]
Chr19:19q13.32		 uncertain significance
GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841) copy number gain not specified [RCV002052686] Chr19:45074342..46133841 [GRCh37]
Chr19:19q13.31-13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.565G>T (p.Val189Leu) single nucleotide variant not provided [RCV001946117] Chr19:45179861 [GRCh38]
Chr19:45683119 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.499C>T (p.Leu167Phe) single nucleotide variant not provided [RCV001888967] Chr19:45179795 [GRCh38]
Chr19:45683053 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.198GCCGGA[4] (p.66EP[5]) microsatellite not provided [RCV001926467] Chr19:45179489..45179490 [GRCh38]
Chr19:45682747..45682748 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.450_473del (p.Gln150_Ala157del) deletion not provided [RCV001892678] Chr19:45179741..45179764 [GRCh38]
Chr19:45682999..45683022 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.449A>G (p.Gln150Arg) single nucleotide variant Hermansky-Pudlak syndrome 8 [RCV002491993]|Inborn genetic diseases [RCV002561434]|not provided [RCV001944178] Chr19:45179745 [GRCh38]
Chr19:45683003 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.133G>A (p.Gly45Ser) single nucleotide variant Inborn genetic diseases [RCV002555613]|not provided [RCV001924988] Chr19:45179429 [GRCh38]
Chr19:45682687 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.325C>G (p.Leu109Val) single nucleotide variant not provided [RCV002038253] Chr19:45179621 [GRCh38]
Chr19:45682879 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.599C>T (p.Pro200Leu) single nucleotide variant not provided [RCV001943640] Chr19:45179895 [GRCh38]
Chr19:45683153 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.440C>T (p.Ala147Val) single nucleotide variant not provided [RCV001957198] Chr19:45179736 [GRCh38]
Chr19:45682994 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.401G>C (p.Arg134Pro) single nucleotide variant not provided [RCV001974716] Chr19:45179697 [GRCh38]
Chr19:45682955 [GRCh37]
Chr19:19q13.32		 uncertain significance
NC_000019.9:g.(?_45682555)_(45683163_?)dup duplication not provided [RCV001925686] Chr19:45682555..45683163 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.86G>C (p.Arg29Pro) single nucleotide variant not provided [RCV002014556] Chr19:45179382 [GRCh38]
Chr19:45682640 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.127C>T (p.Pro43Ser) single nucleotide variant not provided [RCV002047147] Chr19:45179423 [GRCh38]
Chr19:45682681 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.563G>T (p.Gly188Val) single nucleotide variant Inborn genetic diseases [RCV002563367]|not provided [RCV001957977] Chr19:45179859 [GRCh38]
Chr19:45683117 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.557T>A (p.Ile186Asn) single nucleotide variant not provided [RCV001988901] Chr19:45179853 [GRCh38]
Chr19:45683111 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.52G>A (p.Val18Met) single nucleotide variant not provided [RCV001897041] Chr19:45179348 [GRCh38]
Chr19:45682606 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.103_104inv (p.Glu35Ser) inversion not provided [RCV001921008] Chr19:45179399..45179400 [GRCh38]
Chr19:45682657..45682658 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.482G>T (p.Arg161Leu) single nucleotide variant not provided [RCV001876914] Chr19:45179778 [GRCh38]
Chr19:45683036 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.181G>A (p.Ala61Thr) single nucleotide variant not provided [RCV001981617] Chr19:45179477 [GRCh38]
Chr19:45682735 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.70G>A (p.Glu24Lys) single nucleotide variant not provided [RCV001884428] Chr19:45179366 [GRCh38]
Chr19:45682624 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.259C>T (p.Arg87Trp) single nucleotide variant not provided [RCV001980615] Chr19:45179555 [GRCh38]
Chr19:45682813 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.365A>G (p.His122Arg) single nucleotide variant not provided [RCV001932235] Chr19:45179661 [GRCh38]
Chr19:45682919 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.387C>A (p.Ser129Arg) single nucleotide variant Inborn genetic diseases [RCV003161187]|not provided [RCV002016224] Chr19:45179683 [GRCh38]
Chr19:45682941 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.403G>C (p.Ala135Pro) single nucleotide variant not provided [RCV002012639] Chr19:45179699 [GRCh38]
Chr19:45682957 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.529G>A (p.Val177Met) single nucleotide variant not provided [RCV001918649] Chr19:45179825 [GRCh38]
Chr19:45683083 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.295G>A (p.Ala99Thr) single nucleotide variant not provided [RCV001990363] Chr19:45179591 [GRCh38]
Chr19:45682849 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.310C>T (p.Pro104Ser) single nucleotide variant not provided [RCV001881941] Chr19:45179606 [GRCh38]
Chr19:45682864 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.513C>T (p.Ala171=) single nucleotide variant not provided [RCV002205614] Chr19:45179809 [GRCh38]
Chr19:45683067 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.2269C>G (p.Pro757Ala) single nucleotide variant not provided [RCV001957351] Chr19:45213209 [GRCh38]
Chr19:45716467 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.180C>T (p.Ala60=) single nucleotide variant not provided [RCV002186330] Chr19:45179476 [GRCh38]
Chr19:45682734 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.2347A>G (p.Ser783Gly) single nucleotide variant not provided [RCV002206143] Chr19:45213131 [GRCh38]
Chr19:45716389 [GRCh37]
Chr19:19q13.32		 benign
NM_212550.5(BLOC1S3):c.471C>G (p.Ala157=) single nucleotide variant not provided [RCV002187111] Chr19:45179767 [GRCh38]
Chr19:45683025 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.31C>T (p.Leu11=) single nucleotide variant not provided [RCV002187040] Chr19:45179327 [GRCh38]
Chr19:45682585 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.424C>T (p.Leu142=) single nucleotide variant not provided [RCV002146071] Chr19:45179720 [GRCh38]
Chr19:45682978 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.324C>T (p.Leu108=) single nucleotide variant not provided [RCV002106990] Chr19:45179620 [GRCh38]
Chr19:45682878 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.2176C>T (p.Arg726Cys) single nucleotide variant not provided [RCV001906621] Chr19:45213302 [GRCh38]
Chr19:45716560 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.93G>T (p.Ala31=) single nucleotide variant not provided [RCV002206338] Chr19:45179389 [GRCh38]
Chr19:45682647 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.2390G>A (p.Arg797Gln) single nucleotide variant not provided [RCV002045485] Chr19:45213088 [GRCh38]
Chr19:45716346 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2379G>A (p.Pro793=) single nucleotide variant not provided [RCV001171806] Chr19:45213099 [GRCh38]
Chr19:45716357 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.321G>T (p.Ser107=) single nucleotide variant not provided [RCV002130848] Chr19:45179617 [GRCh38]
Chr19:45682875 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.1999-11C>G single nucleotide variant not provided [RCV002097605] Chr19:45216205 [GRCh38]
Chr19:45719463 [GRCh37]
Chr19:19q13.32		 benign
NM_212550.5(BLOC1S3):c.468G>A (p.Ala156=) single nucleotide variant not provided [RCV002135033] Chr19:45179764 [GRCh38]
Chr19:45683022 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.2372G>A (p.Arg791Gln) single nucleotide variant not provided [RCV002185966] Chr19:45213106 [GRCh38]
Chr19:45716364 [GRCh37]
Chr19:19q13.32		 benign
NM_212550.5(BLOC1S3):c.201G>C (p.Pro67=) single nucleotide variant not provided [RCV002195675] Chr19:45179497 [GRCh38]
Chr19:45682755 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.2025C>T (p.Ala675=) single nucleotide variant not provided [RCV002132270] Chr19:45216168 [GRCh38]
Chr19:45719426 [GRCh37]
Chr19:19q13.32		 benign
NM_212550.5(BLOC1S3):c.567G>T (p.Val189=) single nucleotide variant not provided [RCV002198077] Chr19:45179863 [GRCh38]
Chr19:45683121 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.279C>T (p.Ala93=) single nucleotide variant not provided [RCV002181667] Chr19:45179575 [GRCh38]
Chr19:45682833 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.411C>T (p.Arg137=) single nucleotide variant not provided [RCV002099359] Chr19:45179707 [GRCh38]
Chr19:45682965 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.279C>G (p.Ala93=) single nucleotide variant not provided [RCV002142796] Chr19:45179575 [GRCh38]
Chr19:45682833 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.86G>T (p.Arg29Leu) single nucleotide variant Hermansky-Pudlak syndrome 8 [RCV002280980] Chr19:45179382 [GRCh38]
Chr19:45682640 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.437T>A (p.Leu146Gln) single nucleotide variant not specified [RCV002266205] Chr19:45179733 [GRCh38]
Chr19:45682991 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2261C>T (p.Ala754Val) single nucleotide variant Inborn genetic diseases [RCV002754726] Chr19:45213217 [GRCh38]
Chr19:45716475 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2001G>C (p.Glu667Asp) single nucleotide variant not provided [RCV002815678] Chr19:45216192 [GRCh38]
Chr19:45719450 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2265C>A (p.Asp755Glu) single nucleotide variant EXOC3L2-related condition [RCV003916639]|not provided [RCV002947537] Chr19:45213213 [GRCh38]
Chr19:45716471 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.148C>T (p.Arg50Cys) single nucleotide variant not provided [RCV002571823] Chr19:45179444 [GRCh38]
Chr19:45682702 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.89C>G (p.Ser30Cys) single nucleotide variant not provided [RCV002663155] Chr19:45179385 [GRCh38]
Chr19:45682643 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.606C>T (p.Ala202=) single nucleotide variant not provided [RCV003017809] Chr19:45179902 [GRCh38]
Chr19:45683160 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.239T>A (p.Leu80Gln) single nucleotide variant not provided [RCV003020160] Chr19:45179535 [GRCh38]
Chr19:45682793 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.512C>T (p.Ala171Val) single nucleotide variant not provided [RCV003020731] Chr19:45179808 [GRCh38]
Chr19:45683066 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.335G>A (p.Arg112Gln) single nucleotide variant Inborn genetic diseases [RCV002619347]|not provided [RCV002619348] Chr19:45179631 [GRCh38]
Chr19:45682889 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2328C>A (p.Leu776=) single nucleotide variant not provided [RCV003021505] Chr19:45213150 [GRCh38]
Chr19:45716408 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.227C>A (p.Ala76Glu) single nucleotide variant not provided [RCV002979491] Chr19:45179523 [GRCh38]
Chr19:45682781 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2068C>G (p.Pro690Ala) single nucleotide variant Inborn genetic diseases [RCV003000882] Chr19:45216125 [GRCh38]
Chr19:45719383 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.551C>T (p.Pro184Leu) single nucleotide variant not provided [RCV002620990] Chr19:45179847 [GRCh38]
Chr19:45683105 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.395A>G (p.Tyr132Cys) single nucleotide variant not provided [RCV002597280] Chr19:45179691 [GRCh38]
Chr19:45682949 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.332T>G (p.Leu111Arg) single nucleotide variant not provided [RCV002667747] Chr19:45179628 [GRCh38]
Chr19:45682886 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.317G>C (p.Arg106Pro) single nucleotide variant not provided [RCV002894763] Chr19:45179613 [GRCh38]
Chr19:45682871 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2371C>T (p.Arg791Trp) single nucleotide variant Inborn genetic diseases [RCV002789151] Chr19:45213107 [GRCh38]
Chr19:45716365 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2101C>T (p.Arg701Cys) single nucleotide variant Inborn genetic diseases [RCV002891990] Chr19:45216092 [GRCh38]
Chr19:45719350 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.275A>C (p.Glu92Ala) single nucleotide variant Inborn genetic diseases [RCV002789589] Chr19:45179571 [GRCh38]
Chr19:45682829 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.91G>T (p.Ala31Ser) single nucleotide variant Inborn genetic diseases [RCV002827221] Chr19:45179387 [GRCh38]
Chr19:45682645 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.5C>T (p.Ala2Val) single nucleotide variant Inborn genetic diseases [RCV002916053] Chr19:45179301 [GRCh38]
Chr19:45682559 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.556A>T (p.Ile186Phe) single nucleotide variant not provided [RCV002919014] Chr19:45179852 [GRCh38]
Chr19:45683110 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.353C>T (p.Ala118Val) single nucleotide variant not provided [RCV003041814] Chr19:45179649 [GRCh38]
Chr19:45682907 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.392T>C (p.Val131Ala) single nucleotide variant not provided [RCV002626665] Chr19:45179688 [GRCh38]
Chr19:45682946 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2194G>A (p.Val732Met) single nucleotide variant Inborn genetic diseases [RCV002805209] Chr19:45213284 [GRCh38]
Chr19:45716542 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.48G>A (p.Thr16=) single nucleotide variant not provided [RCV002626379] Chr19:45179344 [GRCh38]
Chr19:45682602 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.2102G>A (p.Arg701His) single nucleotide variant Inborn genetic diseases [RCV002803901] Chr19:45216091 [GRCh38]
Chr19:45719349 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.315G>A (p.Ala105=) single nucleotide variant not provided [RCV002967004] Chr19:45179611 [GRCh38]
Chr19:45682869 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.565G>C (p.Val189Leu) single nucleotide variant not provided [RCV003028296] Chr19:45179861 [GRCh38]
Chr19:45683119 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.86G>A (p.Arg29His) single nucleotide variant not provided [RCV002720664] Chr19:45179382 [GRCh38]
Chr19:45682640 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.87C>A (p.Arg29=) single nucleotide variant not provided [RCV002676512] Chr19:45179383 [GRCh38]
Chr19:45682641 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.428C>T (p.Ala143Val) single nucleotide variant not provided [RCV003088484] Chr19:45179724 [GRCh38]
Chr19:45682982 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.105G>A (p.Glu35=) single nucleotide variant not provided [RCV003028442] Chr19:45179401 [GRCh38]
Chr19:45682659 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.97TCG[1] (p.Ser34del) microsatellite not provided [RCV002577356] Chr19:45179393..45179395 [GRCh38]
Chr19:45682651..45682653 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.124G>T (p.Gly42Cys) single nucleotide variant not provided [RCV002647460]|not specified [RCV003388157] Chr19:45179420 [GRCh38]
Chr19:45682678 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.100T>G (p.Ser34Ala) single nucleotide variant Inborn genetic diseases [RCV002989306] Chr19:45179396 [GRCh38]
Chr19:45682654 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_001382422.1(EXOC3L2):c.2396G>A (p.Arg799Gln) single nucleotide variant Inborn genetic diseases [RCV002989353] Chr19:45213082 [GRCh38]
Chr19:45716340 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.42G>A (p.Pro14=) single nucleotide variant not provided [RCV002895185] Chr19:45179338 [GRCh38]
Chr19:45682596 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.100_101inv (p.Ser34Glu) inversion not provided [RCV002942978] Chr19:45179396..45179397 [GRCh38]
Chr19:45682654..45682655 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.160C>T (p.Leu54=) single nucleotide variant not provided [RCV002584249] Chr19:45179456 [GRCh38]
Chr19:45682714 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.98C>T (p.Ser33Leu) single nucleotide variant not provided [RCV002654018] Chr19:45179394 [GRCh38]
Chr19:45682652 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.320C>T (p.Ser107Leu) single nucleotide variant Inborn genetic diseases [RCV002723967] Chr19:45179616 [GRCh38]
Chr19:45682874 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.306C>A (p.Pro102=) single nucleotide variant not provided [RCV002586938] Chr19:45179602 [GRCh38]
Chr19:45682860 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.198GCCGGA[1] (p.66EP[2]) microsatellite not provided [RCV002587989] Chr19:45179490..45179501 [GRCh38]
Chr19:45682748..45682759 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.308C>T (p.Ala103Val) single nucleotide variant not provided [RCV003071942] Chr19:45179604 [GRCh38]
Chr19:45682862 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.178G>A (p.Ala60Thr) single nucleotide variant not provided [RCV002586444] Chr19:45179474 [GRCh38]
Chr19:45682732 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.96C>T (p.Ser32=) single nucleotide variant not provided [RCV003032255] Chr19:45179392 [GRCh38]
Chr19:45682650 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.6G>A (p.Ala2=) single nucleotide variant not provided [RCV002611939] Chr19:45179302 [GRCh38]
Chr19:45682560 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.204G>T (p.Glu68Asp) single nucleotide variant Inborn genetic diseases [RCV003180618] Chr19:45179500 [GRCh38]
Chr19:45682758 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.2131G>A (p.Val711Met) single nucleotide variant Inborn genetic diseases [RCV003386314] Chr19:45213347 [GRCh38]
Chr19:45716605 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.378C>A (p.Ala126=) single nucleotide variant not provided [RCV003571507] Chr19:45179674 [GRCh38]
Chr19:45682932 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.2366G>A (p.Arg789Gln) single nucleotide variant not provided [RCV003425257] Chr19:45213112 [GRCh38]
Chr19:45716370 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.452C>T (p.Ala151Val) single nucleotide variant not provided [RCV003830502] Chr19:45179748 [GRCh38]
Chr19:45683006 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.2388G>A (p.Ala796=) single nucleotide variant not provided [RCV003545668] Chr19:45213090 [GRCh38]
Chr19:45716348 [GRCh37]
Chr19:19q13.32		 benign
NM_212550.5(BLOC1S3):c.72G>A (p.Glu24=) single nucleotide variant not provided [RCV003687049] Chr19:45179368 [GRCh38]
Chr19:45682626 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.480G>A (p.Val160=) single nucleotide variant not provided [RCV003827917] Chr19:45179776 [GRCh38]
Chr19:45683034 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.240G>A (p.Leu80=) single nucleotide variant not provided [RCV003882028] Chr19:45179536 [GRCh38]
Chr19:45682794 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.228G>A (p.Ala76=) single nucleotide variant not provided [RCV003663253] Chr19:45179524 [GRCh38]
Chr19:45682782 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.177A>G (p.Glu59=) single nucleotide variant not provided [RCV003826938] Chr19:45179473 [GRCh38]
Chr19:45682731 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.288G>A (p.Thr96=) single nucleotide variant not provided [RCV003828269] Chr19:45179584 [GRCh38]
Chr19:45682842 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.306C>T (p.Pro102=) single nucleotide variant not provided [RCV003714431] Chr19:45179602 [GRCh38]
Chr19:45682860 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.396C>T (p.Tyr132=) single nucleotide variant not provided [RCV003547548] Chr19:45179692 [GRCh38]
Chr19:45682950 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.66G>A (p.Ala22=) single nucleotide variant not provided [RCV003547605] Chr19:45179362 [GRCh38]
Chr19:45682620 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.325C>T (p.Leu109=) single nucleotide variant not provided [RCV003663278] Chr19:45179621 [GRCh38]
Chr19:45682879 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.543C>T (p.Arg181=) single nucleotide variant not provided [RCV003702707] Chr19:45179839 [GRCh38]
Chr19:45683097 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.213G>A (p.Pro71=) single nucleotide variant not provided [RCV003670027] Chr19:45179509 [GRCh38]
Chr19:45682767 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.195G>A (p.Ser65=) single nucleotide variant not provided [RCV003665588] Chr19:45179491 [GRCh38]
Chr19:45682749 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.291G>A (p.Glu97=) single nucleotide variant not provided [RCV003663708] Chr19:45179587 [GRCh38]
Chr19:45682845 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.258G>A (p.Gln86=) single nucleotide variant not provided [RCV003664655] Chr19:45179554 [GRCh38]
Chr19:45682812 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.120C>T (p.Tyr40=) single nucleotide variant not provided [RCV003856668] Chr19:45179416 [GRCh38]
Chr19:45682674 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.285C>T (p.Gly95=) single nucleotide variant not provided [RCV003673559] Chr19:45179581 [GRCh38]
Chr19:45682839 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.198G>A (p.Glu66=) single nucleotide variant not provided [RCV003725343] Chr19:45179494 [GRCh38]
Chr19:45682752 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.225C>T (p.Ala75=) single nucleotide variant BLOC1S3-related condition [RCV003909182]|not provided [RCV003834546] Chr19:45179521 [GRCh38]
Chr19:45682779 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.231G>A (p.Pro77=) single nucleotide variant not provided [RCV003855913] Chr19:45179527 [GRCh38]
Chr19:45682785 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.471C>T (p.Ala157=) single nucleotide variant not provided [RCV003670050] Chr19:45179767 [GRCh38]
Chr19:45683025 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.255G>A (p.Val85=) single nucleotide variant not provided [RCV003840217] Chr19:45179551 [GRCh38]
Chr19:45682809 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.135C>A (p.Gly45=) single nucleotide variant not provided [RCV003666729] Chr19:45179431 [GRCh38]
Chr19:45682689 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.321G>C (p.Ser107=) single nucleotide variant not provided [RCV003668163] Chr19:45179617 [GRCh38]
Chr19:45682875 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.576C>T (p.Thr192=) single nucleotide variant not provided [RCV003837077] Chr19:45179872 [GRCh38]
Chr19:45683130 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.459G>A (p.Gly153=) single nucleotide variant not provided [RCV003717109] Chr19:45179755 [GRCh38]
Chr19:45683013 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.240G>T (p.Leu80=) single nucleotide variant not provided [RCV003557836] Chr19:45179536 [GRCh38]
Chr19:45682794 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.63G>A (p.Glu21=) single nucleotide variant not provided [RCV003666365] Chr19:45179359 [GRCh38]
Chr19:45682617 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.363C>T (p.Asp121=) single nucleotide variant not provided [RCV003697620] Chr19:45179659 [GRCh38]
Chr19:45682917 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.525C>T (p.Asp175=) single nucleotide variant not provided [RCV003565739] Chr19:45179821 [GRCh38]
Chr19:45683079 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.174G>A (p.Gly58=) single nucleotide variant not provided [RCV003683001] Chr19:45179470 [GRCh38]
Chr19:45682728 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.1999-20G>A single nucleotide variant not provided [RCV003842397] Chr19:45216214 [GRCh38]
Chr19:45719472 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.144C>T (p.Arg48=) single nucleotide variant not provided [RCV003681356] Chr19:45179440 [GRCh38]
Chr19:45682698 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.123G>A (p.Leu41=) single nucleotide variant not provided [RCV003704767] Chr19:45179419 [GRCh38]
Chr19:45682677 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.135C>T (p.Gly45=) single nucleotide variant not provided [RCV003705263] Chr19:45179431 [GRCh38]
Chr19:45682689 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.513C>G (p.Ala171=) single nucleotide variant not provided [RCV003711565] Chr19:45179809 [GRCh38]
Chr19:45683067 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.267G>A (p.Ser89=) single nucleotide variant not provided [RCV003552528] Chr19:45179563 [GRCh38]
Chr19:45682821 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.468G>C (p.Ala156=) single nucleotide variant not provided [RCV003847762] Chr19:45179764 [GRCh38]
Chr19:45683022 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.354G>A (p.Ala118=) single nucleotide variant not provided [RCV003735855] Chr19:45179650 [GRCh38]
Chr19:45682908 [GRCh37]
Chr19:19q13.32		 likely benign
NM_001382422.1(EXOC3L2):c.2365C>T (p.Arg789Trp) single nucleotide variant not provided [RCV003728723] Chr19:45213113 [GRCh38]
Chr19:45716371 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.492C>T (p.Arg164=) single nucleotide variant not provided [RCV003737968] Chr19:45179788 [GRCh38]
Chr19:45683046 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.486G>C (p.Leu162=) single nucleotide variant not provided [RCV003864851] Chr19:45179782 [GRCh38]
Chr19:45683040 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.115C>T (p.Leu39=) single nucleotide variant not provided [RCV003867579] Chr19:45179411 [GRCh38]
Chr19:45682669 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.190G>T (p.Asp64Tyr) single nucleotide variant not provided [RCV003862357] Chr19:45179486 [GRCh38]
Chr19:45682744 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.573G>A (p.Gly191=) single nucleotide variant not provided [RCV003679657] Chr19:45179869 [GRCh38]
Chr19:45683127 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.300G>T (p.Pro100=) single nucleotide variant not provided [RCV003711618] Chr19:45179596 [GRCh38]
Chr19:45682854 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.36G>A (p.Arg12=) single nucleotide variant not provided [RCV003862335] Chr19:45179332 [GRCh38]
Chr19:45682590 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.201G>A (p.Pro67=) single nucleotide variant not provided [RCV003843619] Chr19:45179497 [GRCh38]
Chr19:45682755 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.99G>C (p.Ser33=) single nucleotide variant not provided [RCV003562830] Chr19:45179395 [GRCh38]
Chr19:45682653 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.237C>T (p.Asp79=) single nucleotide variant BLOC1S3-related condition [RCV003896683] Chr19:45179533 [GRCh38]
Chr19:45682791 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.-1C>T single nucleotide variant BLOC1S3-related condition [RCV003902196] Chr19:45179296 [GRCh38]
Chr19:45682554 [GRCh37]
Chr19:19q13.32		 likely benign
NM_212550.5(BLOC1S3):c.95C>A (p.Ser32Tyr) single nucleotide variant BLOC1S3-related condition [RCV003964329] Chr19:45179391 [GRCh38]
Chr19:45682649 [GRCh37]
Chr19:19q13.32		 uncertain significance
NM_212550.5(BLOC1S3):c.238C>T (p.Leu80=) single nucleotide variant BLOC1S3-related condition [RCV003951610] Chr19:45179534 [GRCh38]
Chr19:45682792 [GRCh37]
Chr19:19q13.32		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1938
Count of miRNA genes:844
Interacting mature miRNAs:961
Transcripts:ENST00000433642, ENST00000587722, ENST00000588362, ENST00000592910
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH48388  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371945,684,864 - 45,685,004UniSTSGRCh37
Build 361950,376,704 - 50,376,844RGDNCBI36
Celera1942,489,126 - 42,489,266RGD
Cytogenetic Map19q13.32UniSTS
HuRef1942,115,010 - 42,115,150UniSTS
GeneMap99-GB4 RH Map19250.85UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 814 1239 531 134 1436 111 2819 370 1055 219 1088 952 36 1 581 1640 3 2
Low 1624 1752 1195 490 515 354 1538 1827 2679 200 372 661 138 623 1148 3
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_033044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_212550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007066810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007066811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007066812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007066813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA436323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY531266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC151151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC151152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU616355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC422050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN996082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000433642   ⟹   ENSP00000393840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1945,178,784 - 45,181,800 (+)Ensembl
RefSeq Acc Id: ENST00000587722   ⟹   ENSP00000468281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1945,179,223 - 45,179,954 (+)Ensembl
RefSeq Acc Id: ENST00000588362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1945,179,914 - 45,181,569 (+)Ensembl
RefSeq Acc Id: ENST00000591569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1945,187,388 - 45,216,933 (+)Ensembl
RefSeq Acc Id: ENST00000592910   ⟹   ENSP00000466798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1945,179,669 - 45,181,466 (+)Ensembl
RefSeq Acc Id: ENST00000593083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1945,179,822 - 45,202,444 (+)Ensembl
RefSeq Acc Id: NM_212550   ⟹   NP_997715
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,178,784 - 45,181,800 (+)NCBI
GRCh371945,682,003 - 45,685,058 (+)RGD
Build 361950,373,891 - 50,375,003 (+)NCBI Archive
Celera1942,486,265 - 42,489,320 (+)RGD
HuRef1942,112,149 - 42,115,204 (+)RGD
CHM1_11945,685,293 - 45,688,349 (+)NCBI
T2T-CHM13v2.01948,003,917 - 48,006,933 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001753683
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,178,784 - 45,202,714 (+)NCBI
Sequence:
RefSeq Acc Id: XR_007066810
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,178,784 - 45,205,228 (+)NCBI
RefSeq Acc Id: XR_007066811
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,178,784 - 45,217,083 (+)NCBI
RefSeq Acc Id: XR_007066812
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,178,784 - 45,212,620 (+)NCBI
RefSeq Acc Id: XR_007066813
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381945,178,784 - 45,217,083 (+)NCBI
RefSeq Acc Id: XR_008485147
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01948,003,901 - 48,029,351 (+)NCBI
RefSeq Acc Id: XR_008485148
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01948,003,917 - 48,031,861 (+)NCBI
RefSeq Acc Id: XR_008485149
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01948,003,901 - 48,043,728 (+)NCBI
RefSeq Acc Id: XR_008485150
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01948,003,901 - 48,039,265 (+)NCBI
RefSeq Acc Id: XR_008485151
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01948,003,901 - 48,043,728 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_997715   ⟸   NM_212550
- UniProtKB: B2RXB8 (UniProtKB/Swiss-Prot),   Q6QNY0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000468281   ⟸   ENST00000587722
RefSeq Acc Id: ENSP00000393840   ⟸   ENST00000433642
RefSeq Acc Id: ENSP00000466798   ⟸   ENST00000592910

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6QNY0-F1-model_v2 AlphaFold Q6QNY0 1-202 view protein structure

Promoters
RGD ID:6795185
Promoter ID:HG_KWN:30260
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_212550,   UC010EJX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361950,373,346 - 50,373,927 (+)MPROMDB
RGD ID:6811503
Promoter ID:HG_ACW:41876
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:BLOC1S3.BAPR07,   BLOC1S3.CAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361950,374,369 - 50,374,869 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20914 AgrOrtholog
COSMIC BLOC1S3 COSMIC
Ensembl Genes ENSG00000189114 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000433642 ENTREZGENE
  ENST00000433642.3 UniProtKB/Swiss-Prot
  ENST00000587722.1 UniProtKB/Swiss-Prot
  ENST00000592910.1 UniProtKB/TrEMBL
GTEx ENSG00000189114 GTEx
HGNC ID HGNC:20914 ENTREZGENE
Human Proteome Map BLOC1S3 Human Proteome Map
InterPro BLOC-1_complex_su-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:388552 UniProtKB/Swiss-Prot
NCBI Gene 388552 ENTREZGENE
OMIM 609762 OMIM
PANTHER BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1 SUBUNIT 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR31974 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BLOC1S3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134884924 PharmGKB
PIRSF BLOC-1_complex_subunit_3 UniProtKB/Swiss-Prot
UniProt B2RXB8 ENTREZGENE
  BL1S3_HUMAN UniProtKB/Swiss-Prot
  K7EN58_HUMAN UniProtKB/TrEMBL
  Q6QNY0 ENTREZGENE
UniProt Secondary B2RXB8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 BLOC1S3  biogenesis of lysosomal organelles complex 1 subunit 3  BLOC1S3  biogenesis of lysosomal organelles complex-1, subunit 3  Symbol and/or name change 5135510 APPROVED