UNC13A (unc-13 homolog A) - Rat Genome Database

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Gene: UNC13A (unc-13 homolog A) Homo sapiens
Analyze
Symbol: UNC13A
Name: unc-13 homolog A
RGD ID: 1345956
HGNC Page HGNC:23150
Description: Predicted to enable calmodulin binding activity; identical protein binding activity; and syntaxin-1 binding activity. Involved in positive regulation of dendrite extension. Predicted to be located in several cellular components, including Golgi-associated vesicle; excitatory synapse; and synaptic membrane. Predicted to be active in several cellular components, including axon terminus; presynaptic active zone cytoplasmic component; and synaptic vesicle membrane. Implicated in amyotrophic lateral sclerosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: KIAA1032; Munc13-1; protein unc-13 homolog A; unc-13 homolog A (C. elegans)
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
GRCh381917,601,336 - 17,688,354 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1917,601,336 - 17,688,365 (-)EnsemblGRCh38hg38GRCh38
GRCh371917,712,145 - 17,799,163 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361917,573,137 - 17,660,401 (-)NCBINCBI36Build 36hg18NCBI36
Celera1917,613,819 - 17,700,754 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1917,276,161 - 17,362,803 (-)NCBIHuRef
CHM1_11917,711,616 - 17,798,549 (-)NCBICHM1_1
T2T-CHM13v2.01917,735,579 - 17,822,489 (-)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

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Analysis of the UNC13A gene as a risk factor for sporadic amyotrophic lateral sclerosis. Daoud H, etal., Arch Neurol. 2010 Apr;67(4):516-7.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. van Es MA, etal., Nat Genet. 2009 Oct;41(10):1083-7. Epub 2009 Sep 6.
7. Mechanisms of biphasic insulin-granule exocytosis - roles of the cytoskeleton, small GTPases and SNARE proteins. Wang Z and Thurmond DC, J Cell Sci. 2009 Apr 1;122(Pt 7):893-903.
8. Characterization of Munc13-1 and insulin secretion during pancreatic development in rats. Yuan QX, etal., J Endocrinol Invest. 2008 Jul;31(7):630-5.
Additional References at PubMed
PMID:10470851   PMID:12421765   PMID:12477932   PMID:12871971   PMID:14702039   PMID:14734538   PMID:15123597   PMID:15217342   PMID:16344560   PMID:19996097   PMID:20379614   PMID:21873635  
PMID:22118904   PMID:22248876   PMID:22658674   PMID:22921269   PMID:22959728   PMID:23251661   PMID:23801330   PMID:23830992   PMID:23999003   PMID:24256812   PMID:24931836   PMID:26162714  
PMID:26389662   PMID:27584932   PMID:28192369   PMID:30368160   PMID:31201598   PMID:31586073   PMID:32627229   PMID:33818064   PMID:33961781   PMID:35197626   PMID:35197628  


Genomics

Comparative Map Data
UNC13A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381917,601,336 - 17,688,354 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1917,601,336 - 17,688,365 (-)EnsemblGRCh38hg38GRCh38
GRCh371917,712,145 - 17,799,163 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361917,573,137 - 17,660,401 (-)NCBINCBI36Build 36hg18NCBI36
Celera1917,613,819 - 17,700,754 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1917,276,161 - 17,362,803 (-)NCBIHuRef
CHM1_11917,711,616 - 17,798,549 (-)NCBICHM1_1
T2T-CHM13v2.01917,735,579 - 17,822,489 (-)NCBIT2T-CHM13v2.0
Unc13a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39872,079,356 - 72,124,418 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl872,077,061 - 72,124,401 (-)EnsemblGRCm39 Ensembl
GRCm38871,624,125 - 71,671,774 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl871,624,417 - 71,671,757 (-)EnsemblGRCm38mm10GRCm38
MGSCv37874,150,611 - 74,195,656 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36874,558,412 - 74,600,636 (-)NCBIMGSCv36mm8
Celera874,140,993 - 74,186,237 (-)NCBICelera
Cytogenetic Map8B3.3NCBI
Unc13a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21618,336,229 - 18,381,811 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1618,336,229 - 18,381,872 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1618,384,673 - 18,432,402 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01619,516,945 - 19,565,015 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01618,437,617 - 18,485,341 (-)NCBIRnor_WKY
Rnor_6.01620,056,398 - 20,103,951 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1620,056,765 - 20,097,287 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01619,917,585 - 19,964,219 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41618,827,405 - 18,872,461 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11618,827,402 - 18,872,453 (-)NCBI
Celera1618,539,912 - 18,584,310 (-)NCBICelera
Cytogenetic Map16p14NCBI
Unc13a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955524725,353 - 769,745 (+)NCBIChiLan1.0ChiLan1.0
UNC13A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11918,063,260 - 18,150,713 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1918,068,006 - 18,150,642 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01917,088,654 - 17,175,559 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
UNC13A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12045,179,275 - 45,237,544 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2045,188,750 - 45,238,115 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2045,091,418 - 45,152,586 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02045,664,551 - 45,729,225 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2045,664,566 - 45,726,706 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12044,900,707 - 44,962,114 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02045,311,011 - 45,375,605 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02045,586,777 - 45,648,193 (+)NCBIUU_Cfam_GSD_1.0
Unc13a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118203,763,514 - 203,824,246 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365963,312,788 - 3,368,916 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365963,311,358 - 3,370,833 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
UNC13A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1260,057,926 - 60,130,015 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2259,626,729 - 59,665,341 (+)NCBISscrofa10.2Sscrofa10.2susScr3
UNC13A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1616,082,703 - 16,167,165 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl616,084,168 - 16,154,812 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660743,233,011 - 3,341,879 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Unc13a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624908418,248 - 464,203 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in UNC13A
59 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9050
Count of miRNA genes:1242
Interacting mature miRNAs:1628
Transcripts:ENST00000252773, ENST00000428389, ENST00000517497, ENST00000519716, ENST00000523229, ENST00000550896, ENST00000551649, ENST00000552293, ENST00000601528
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-89041  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371917,747,116 - 17,747,450UniSTSGRCh37
Build 361917,608,116 - 17,608,450RGDNCBI36
Celera1917,649,105 - 17,649,439RGD
Cytogenetic Map19p13.11UniSTS
HuRef1917,311,159 - 17,311,493UniSTS
TNG Radiation Hybrid Map196357.0UniSTS
G20690  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371917,712,281 - 17,712,412UniSTSGRCh37
Build 361917,573,281 - 17,573,412RGDNCBI36
Celera1917,613,963 - 17,614,094RGD
Cytogenetic Map19p13.11UniSTS
HuRef1917,276,305 - 17,276,436UniSTS
A006C03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371917,712,281 - 17,712,412UniSTSGRCh37
Build 361917,573,281 - 17,573,412RGDNCBI36
Celera1917,613,963 - 17,614,094RGD
Cytogenetic Map19p13.11UniSTS
HuRef1917,276,305 - 17,276,436UniSTS
GeneMap99-GB4 RH Map1996.23UniSTS
RH15984  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19p13.11UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS


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 14 86 285 4 6 4 183 5 2247 6 18 83 9
Low 788 944 627 27 519 29 762 91 950 70 726 626 3 1 122 624 2
Below cutoff 1615 1902 681 467 1259 307 3373 2058 526 280 678 864 167 1082 2134 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000517497
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,609,975 - 17,619,042 (-)Ensembl
RefSeq Acc Id: ENST00000519716   ⟹   ENSP00000429562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,601,336 - 17,688,354 (-)Ensembl
RefSeq Acc Id: ENST00000523229
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,606,314 - 17,612,160 (-)Ensembl
RefSeq Acc Id: ENST00000550896   ⟹   ENSP00000446831
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,606,051 - 17,688,365 (-)Ensembl
RefSeq Acc Id: ENST00000551649   ⟹   ENSP00000447236
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,605,321 - 17,688,349 (-)Ensembl
RefSeq Acc Id: ENST00000552293   ⟹   ENSP00000447572
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,605,961 - 17,688,326 (-)Ensembl
RefSeq Acc Id: ENST00000601528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1917,626,288 - 17,628,337 (-)Ensembl
RefSeq Acc Id: NM_001080421   ⟹   NP_001073890
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,601,336 - 17,688,354 (-)NCBI
GRCh371917,712,137 - 17,799,123 (-)NCBI
Build 361917,573,137 - 17,660,401 (-)NCBI Archive
Celera1917,613,819 - 17,700,754 (-)RGD
HuRef1917,276,161 - 17,362,803 (-)RGD
CHM1_11917,711,616 - 17,798,549 (-)NCBI
T2T-CHM13v2.01917,735,579 - 17,822,489 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387021   ⟹   NP_001373950
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,601,336 - 17,688,354 (-)NCBI
T2T-CHM13v2.01917,735,579 - 17,822,489 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387022   ⟹   NP_001373951
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,601,336 - 17,688,354 (-)NCBI
T2T-CHM13v2.01917,735,579 - 17,822,489 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001387023   ⟹   NP_001373952
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,601,336 - 17,688,354 (-)NCBI
T2T-CHM13v2.01917,735,579 - 17,822,489 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527810   ⟹   XP_011526112
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,601,336 - 17,688,354 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011527811   ⟹   XP_011526113
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,601,336 - 17,688,354 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017026502   ⟹   XP_016881991
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381917,601,336 - 17,688,354 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001073890   ⟸   NM_001080421
- Peptide Label: isoform 1
- UniProtKB: E5RHY9 (UniProtKB/Swiss-Prot),   Q9UPW8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011526112   ⟸   XM_011527810
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011526113   ⟸   XM_011527811
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016881991   ⟸   XM_017026502
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000429562   ⟸   ENST00000519716
RefSeq Acc Id: ENSP00000446831   ⟸   ENST00000550896
RefSeq Acc Id: ENSP00000447236   ⟸   ENST00000551649
RefSeq Acc Id: ENSP00000447572   ⟸   ENST00000552293
RefSeq Acc Id: NP_001373951   ⟸   NM_001387022
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001373952   ⟸   NM_001387023
- Peptide Label: isoform 4
- UniProtKB: F8VZH8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373950   ⟸   NM_001387021
- Peptide Label: isoform 2
Protein Domains
C2   MHD1   MHD2   Phorbol-ester/DAG-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UPW8-F1-model_v2 AlphaFold Q9UPW8 1-1703 view protein structure


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11
pathogenic
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 copy number gain See cases [RCV000052912] Chr19:13974677..27839676 [GRCh38]
Chr19:14085489..28330584 [GRCh37]
Chr19:13946489..33022424 [NCBI36]
Chr19:19p13.12-q11
pathogenic
NM_001080421.2(UNC13A):c.3855C>T (p.Ile1285=) single nucleotide variant Malignant melanoma [RCV000072001] Chr19:17627574 [GRCh38]
Chr19:17738383 [GRCh37]
Chr19:17599383 [NCBI36]
Chr19:19p13.11
not provided
NM_001080421.2(UNC13A):c.3483G>A (p.Arg1161=) single nucleotide variant Malignant melanoma [RCV000072002] Chr19:17630696 [GRCh38]
Chr19:17741505 [GRCh37]
Chr19:17602505 [NCBI36]
Chr19:19p13.11
not provided
NM_001080421.2(UNC13A):c.2278G>A (p.Glu760Lys) single nucleotide variant Malignant melanoma [RCV000072003] Chr19:17645752 [GRCh38]
Chr19:17756561 [GRCh37]
Chr19:17617561 [NCBI36]
Chr19:19p13.11
not provided
NM_001080421.2(UNC13A):c.23-3423C>T single nucleotide variant Lung cancer [RCV000101065] Chr19:17679464 [GRCh38]
Chr19:17790273 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu) single nucleotide variant not provided [RCV001290299] Chr19:17642876 [GRCh38]
Chr19:17753685 [GRCh37]
Chr19:19p13.11
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 copy number gain See cases [RCV000136696] Chr19:15133594..24193591 [GRCh38]
Chr19:15244405..24376393 [GRCh37]
Chr19:15105405..24168233 [NCBI36]
Chr19:19p13.12-12
pathogenic|likely pathogenic
GRCh38/hg38 19p13.11(chr19:17308207-17705382)x1 copy number loss See cases [RCV000141610] Chr19:17308207..17705382 [GRCh38]
Chr19:17419016..17816191 [GRCh37]
Chr19:17280016..17677191 [NCBI36]
Chr19:19p13.11
uncertain significance
GRCh38/hg38 19p13.11(chr19:17246895-17730147)x1 copy number loss See cases [RCV000143571] Chr19:17246895..17730147 [GRCh38]
Chr19:17357704..17840956 [GRCh37]
Chr19:17218704..17701956 [NCBI36]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.11(chr19:17514059-17899363)x3 copy number gain See cases [RCV000240346] Chr19:17514059..17899363 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3 copy number gain not provided [RCV000752593] Chr19:16526787..24631604 [GRCh37]
Chr19:19p13.11-11
pathogenic
NM_001080421.3(UNC13A):c.304C>T (p.Gln102Ter) single nucleotide variant not provided [RCV000412639] Chr19:17669643 [GRCh38]
Chr19:17780452 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1 copy number loss not provided [RCV000487468] Chr19:15970389..17893528 [GRCh37]
Chr19:19p13.12-13.11
pathogenic
GRCh37/hg19 19p13.11(chr19:17325373-17840956)x1 copy number loss See cases [RCV000511154] Chr19:17325373..17840956 [GRCh37]
Chr19:19p13.11
uncertain significance
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(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [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
NC_000019.10:g.(?_17607118)_(17624457_?)del deletion Autism [RCV000754210] Chr19:17607118..17624457 [GRCh38]
Chr19:19p13.11
likely pathogenic
NM_001080421.3(UNC13A):c.774G>A (p.Thr258=) single nucleotide variant not provided [RCV000896155] Chr19:17656392 [GRCh38]
Chr19:17767201 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.1512C>T (p.Ser504=) single nucleotide variant not provided [RCV000936397] Chr19:17649515 [GRCh38]
Chr19:17760324 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.739G>A (p.Glu247Lys) single nucleotide variant not provided [RCV000996822] Chr19:17658090 [GRCh38]
Chr19:17768899 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_001080421.3(UNC13A):c.452T>C (p.Met151Thr) single nucleotide variant not provided [RCV000927972] Chr19:17668133 [GRCh38]
Chr19:17778942 [GRCh37]
Chr19:19p13.11
benign
NM_001080421.3(UNC13A):c.457G>T (p.Asp153Tyr) single nucleotide variant not provided [RCV000903351] Chr19:17668128 [GRCh38]
Chr19:17778937 [GRCh37]
Chr19:19p13.11
benign
NM_001080421.3(UNC13A):c.3786A>G (p.Leu1262=) single nucleotide variant not provided [RCV000882403] Chr19:17627908 [GRCh38]
Chr19:17738717 [GRCh37]
Chr19:19p13.11
benign
NM_001080421.3(UNC13A):c.660C>T (p.Asn220=) single nucleotide variant not provided [RCV000926771] Chr19:17658169 [GRCh38]
Chr19:17768978 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.767+10G>A single nucleotide variant not provided [RCV000899555] Chr19:17658052 [GRCh38]
Chr19:17768861 [GRCh37]
Chr19:19p13.11
benign
NM_001080421.3(UNC13A):c.3081+10C>T single nucleotide variant not provided [RCV000928166] Chr19:17639073 [GRCh38]
Chr19:17749882 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.4965C>T (p.Leu1655=) single nucleotide variant not provided [RCV000900981] Chr19:17606201 [GRCh38]
Chr19:17717010 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.4305G>A (p.Glu1435=) single nucleotide variant not provided [RCV000902687] Chr19:17618930 [GRCh38]
Chr19:17729739 [GRCh37]
Chr19:19p13.11
benign
NM_001080421.3(UNC13A):c.2379C>T (p.Ala793=) single nucleotide variant not provided [RCV000882404] Chr19:17642938 [GRCh38]
Chr19:17753747 [GRCh37]
Chr19:19p13.11
benign
NM_001080421.3(UNC13A):c.1188C>T (p.Pro396=) single nucleotide variant not provided [RCV000882877] Chr19:17655978 [GRCh38]
Chr19:17766787 [GRCh37]
Chr19:19p13.11
benign
NM_001080421.3(UNC13A):c.2562C>T (p.Tyr854=) single nucleotide variant not provided [RCV000943222] Chr19:17641467 [GRCh38]
Chr19:17752276 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.2(UNC13A):c.4225G>A (p.Gly1409Ser) single nucleotide variant Esophageal atresia [RCV000984770] Chr19:17621849 [GRCh38]
Chr19:17732658 [GRCh37]
Chr19:19p13.11
likely pathogenic
NM_001080421.3(UNC13A):c.570C>T (p.Pro190=) single nucleotide variant not provided [RCV000922398] Chr19:17658259 [GRCh38]
Chr19:17769068 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.1368C>T (p.Asn456=) single nucleotide variant not provided [RCV000907166] Chr19:17655298 [GRCh38]
Chr19:17766107 [GRCh37]
Chr19:19p13.11
benign
NM_001080421.3(UNC13A):c.2808C>A (p.Leu936=) single nucleotide variant not provided [RCV000897690] Chr19:17639888 [GRCh38]
Chr19:17750697 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.3552A>G (p.Leu1184=) single nucleotide variant not provided [RCV000880041] Chr19:17630262 [GRCh38]
Chr19:17741071 [GRCh37]
Chr19:19p13.11
benign
NM_001080421.3(UNC13A):c.3726C>T (p.Ser1242=) single nucleotide variant not provided [RCV000918768] Chr19:17629267 [GRCh38]
Chr19:17740076 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.1500C>T (p.Ile500=) single nucleotide variant not provided [RCV000916422] Chr19:17649527 [GRCh38]
Chr19:17760336 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.4560C>T (p.Gly1520=) single nucleotide variant not provided [RCV000914108] Chr19:17611854 [GRCh38]
Chr19:17722663 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.1653G>T (p.Thr551=) single nucleotide variant not provided [RCV000977885] Chr19:17648594 [GRCh38]
Chr19:17759403 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.1075G>A (p.Ala359Thr) single nucleotide variant not provided [RCV001714029] Chr19:17656091 [GRCh38]
Chr19:17766900 [GRCh37]
Chr19:19p13.11
benign
NM_001080421.3(UNC13A):c.4548A>G (p.Gln1516=) single nucleotide variant not provided [RCV000933098] Chr19:17617712 [GRCh38]
Chr19:17728521 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.4515C>T (p.Thr1505=) single nucleotide variant not provided [RCV000952780] Chr19:17617745 [GRCh38]
Chr19:17728554 [GRCh37]
Chr19:19p13.11
benign
NM_001080421.3(UNC13A):c.3411C>T (p.Arg1137=) single nucleotide variant not provided [RCV000907769] Chr19:17632799 [GRCh38]
Chr19:17743608 [GRCh37]
Chr19:19p13.11
benign
NM_001080421.3(UNC13A):c.4611C>T (p.Phe1537=) single nucleotide variant not provided [RCV000974649] Chr19:17611803 [GRCh38]
Chr19:17722612 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.360C>T (p.Arg120=) single nucleotide variant not provided [RCV000973954] Chr19:17669587 [GRCh38]
Chr19:17780396 [GRCh37]
Chr19:19p13.11
benign
NM_001080421.3(UNC13A):c.1155G>A (p.Glu385=) single nucleotide variant not provided [RCV000907375] Chr19:17656011 [GRCh38]
Chr19:17766820 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.294G>A (p.Thr98=) single nucleotide variant not provided [RCV000909300] Chr19:17669653 [GRCh38]
Chr19:17780462 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.3180G>A (p.Glu1060=) single nucleotide variant not provided [RCV000930155] Chr19:17636059 [GRCh38]
Chr19:17746868 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.7C>T (p.Leu3=) single nucleotide variant not provided [RCV000947929] Chr19:17688193 [GRCh38]
Chr19:17799002 [GRCh37]
Chr19:19p13.11
benign
NM_001080421.3(UNC13A):c.3291C>T (p.Tyr1097=) single nucleotide variant not provided [RCV000885538] Chr19:17633118 [GRCh38]
Chr19:17743927 [GRCh37]
Chr19:19p13.11
benign
NM_001080421.3(UNC13A):c.2025C>T (p.Ser675=) single nucleotide variant not provided [RCV000910803] Chr19:17647284 [GRCh38]
Chr19:17758093 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.2788-8C>T single nucleotide variant not provided [RCV000968759] Chr19:17639916 [GRCh38]
Chr19:17750725 [GRCh37]
Chr19:19p13.11
benign
NM_001080421.3(UNC13A):c.2067G>A (p.Gln689=) single nucleotide variant not provided [RCV000971435] Chr19:17646089 [GRCh38]
Chr19:17756898 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.394+7del deletion not provided [RCV000912870] Chr19:17669546 [GRCh38]
Chr19:17780355 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.2703C>T (p.Leu901=) single nucleotide variant not provided [RCV000889381] Chr19:17640595 [GRCh38]
Chr19:17751404 [GRCh37]
Chr19:19p13.11
benign
NM_001080421.3(UNC13A):c.2220G>A (p.Val740=) single nucleotide variant not provided [RCV000889938] Chr19:17645810 [GRCh38]
Chr19:17756619 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.3930G>A (p.Pro1310=) single nucleotide variant not provided [RCV000911292] Chr19:17626776 [GRCh38]
Chr19:17737585 [GRCh37]
Chr19:19p13.11
likely benign
NM_001080421.3(UNC13A):c.3576T>C (p.Val1192=) single nucleotide variant not provided [RCV001720405] Chr19:17630238 [GRCh38]
Chr19:17741047 [GRCh37]
Chr19:19p13.11
benign
NM_001080421.3(UNC13A):c.4273-16A>C single nucleotide variant not provided [RCV001656472] Chr19:17618978 [GRCh38]
Chr19:17729787 [GRCh37]
Chr19:19p13.11
benign
NM_001080421.3(UNC13A):c.3497G>C (p.Gly1166Ala) single nucleotide variant Intellectual disability [RCV001254988] Chr19:17630682 [GRCh38]
Chr19:17741491 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_001080421.3(UNC13A):c.4197+7C>T single nucleotide variant Amyotrophic lateral sclerosis [RCV001260223] Chr19:17624822 [GRCh38]
Chr19:17735631 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_001080421.3(UNC13A):c.832G>A (p.Glu278Lys) single nucleotide variant not provided [RCV001255106] Chr19:17656334 [GRCh38]
Chr19:17767143 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_001080421.3(UNC13A):c.2786G>A (p.Gly929Glu) single nucleotide variant Neurodevelopmental disorder [RCV001262306] Chr19:17640512 [GRCh38]
Chr19:17751321 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 copy number gain not provided [RCV001259370] Chr19:14286624..20956753 [GRCh37]
Chr19:19p13.12-12
pathogenic
GRCh37/hg19 19p13.11(chr19:17639605-17992841)x3 copy number gain not provided [RCV001259369] Chr19:17639605..17992841 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_001080421.3(UNC13A):c.2255G>A (p.Arg752His) single nucleotide variant UNC13A-related Neurodevelopmental and Movement disorder [RCV002227794] Chr19:17645775 [GRCh38]
Chr19:17756584 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_001080421.3(UNC13A):c.523+6T>C single nucleotide variant not specified [RCV002248925] Chr19:17666644 [GRCh38]
Chr19:17777453 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_001080421.3(UNC13A):c.3249C>G (p.Ser1083Arg) single nucleotide variant not provided [RCV001806876] Chr19:17633160 [GRCh38]
Chr19:17743969 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_001080421.3(UNC13A):c.1704del (p.Cys567_Tyr568insTer) deletion not provided [RCV001869901] Chr19:17648543 [GRCh38]
Chr19:17759352 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_001080421.3(UNC13A):c.1668C>A (p.Phe556Leu) single nucleotide variant Amyotrophic lateral sclerosis type 1 [RCV002290338] Chr19:17648579 [GRCh38]
Chr19:17759388 [GRCh37]
Chr19:19p13.11
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23150 AgrOrtholog
COSMIC UNC13A COSMIC
Ensembl Genes ENSG00000130477 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000429562 ENTREZGENE
  ENSP00000429562.2 UniProtKB/Swiss-Prot
  ENSP00000446831 ENTREZGENE
  ENSP00000446831.1 UniProtKB/TrEMBL
  ENSP00000447236.1 UniProtKB/TrEMBL
  ENSP00000447572 ENTREZGENE
  ENSP00000447572.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000519716 ENTREZGENE
  ENST00000519716.7 UniProtKB/Swiss-Prot
  ENST00000550896 ENTREZGENE
  ENST00000550896.1 UniProtKB/TrEMBL
  ENST00000551649.5 UniProtKB/TrEMBL
  ENST00000552293 ENTREZGENE
  ENST00000552293.5 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130477 GTEx
HGNC ID HGNC:23150 ENTREZGENE
Human Proteome Map UNC13A Human Proteome Map
InterPro C1-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  C2_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CAPS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Munc13_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Munc13_dom-2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PE/DAG-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Unc-13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Unc-13_C2B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Unc13A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23025 UniProtKB/Swiss-Prot
NCBI Gene 23025 ENTREZGENE
OMIM 609894 OMIM
PANTHER PTHR10480 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10480:SF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam C1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF1041 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00168 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134879020 PharmGKB
PRINTS C2DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE MHD1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MHD2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50004 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_DAG_PE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_DAG_PE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DUF1041 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00109 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00239 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49562 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57889 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E5RHY9 ENTREZGENE
  F8VZH8 ENTREZGENE, UniProtKB/TrEMBL
  F8W059_HUMAN UniProtKB/TrEMBL
  F8W0P6_HUMAN UniProtKB/TrEMBL
  Q9UPW8 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary E5RHY9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-28 UNC13A  unc-13 homolog A    unc-13 homolog A (C. elegans)  Symbol and/or name change 5135510 APPROVED