SRGAP1 (SLIT-ROBO Rho GTPase activating protein 1) - Rat Genome Database

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Gene: SRGAP1 (SLIT-ROBO Rho GTPase activating protein 1) Homo sapiens
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Symbol: SRGAP1
Name: SLIT-ROBO Rho GTPase activating protein 1
RGD ID: 1348930
HGNC Page HGNC:17382
Description: Predicted to enable small GTPase binding activity. Predicted to be involved in negative regulation of cell migration. Predicted to act upstream of or within Rho protein signal transduction and cell migration. Predicted to be located in cytosol. Predicted to be active in cytoplasm. Implicated in papillary thyroid carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ARHGAP13; FLJ22166; KIAA1304; NMTC2; rho GTPase-activating protein 13; SLIT-ROBO Rho GTPase-activating protein 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381263,844,700 - 64,162,217 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1263,843,761 - 64,162,217 (+)EnsemblGRCh38hg38GRCh38
GRCh371264,238,480 - 64,555,997 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361262,524,808 - 62,823,841 (+)NCBINCBI36Build 36hg18NCBI36
Build 341262,524,807 - 62,823,827NCBI
Celera1263,903,548 - 64,206,828 (+)NCBICelera
Cytogenetic Map12q14.2NCBI
HuRef1261,290,158 - 61,593,347 (+)NCBIHuRef
CHM1_11264,206,267 - 64,509,435 (+)NCBICHM1_1
T2T-CHM13v2.01263,823,410 - 64,141,021 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA)
cytosol  (TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Recombinant Slit2 attenuates neuronal apoptosis via the Robo1-srGAP1 pathway in a rat model of neonatal HIE. Kaur H, etal., Neuropharmacology. 2019 Nov 1;158:107727. doi: 10.1016/j.neuropharm.2019.107727. Epub 2019 Jul 26.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:10718198   PMID:11672528   PMID:12477932   PMID:12736724   PMID:14702039   PMID:15161933   PMID:15489334   PMID:15761153   PMID:17081983   PMID:17500595   PMID:19322201   PMID:19531213  
PMID:19807924   PMID:20237496   PMID:20856855   PMID:21060114   PMID:21873635   PMID:23539728   PMID:24006490   PMID:25134534   PMID:25150978   PMID:26026080   PMID:26026792   PMID:26496610  
PMID:27923383   PMID:28514442   PMID:28977470   PMID:29117863   PMID:29160905   PMID:29234151   PMID:29507755   PMID:30021884   PMID:30631154   PMID:32203420   PMID:33658012   PMID:33961781  
PMID:33984363   PMID:34079125   PMID:34467244   PMID:35271311   PMID:36215168   PMID:36526897   PMID:36931259   PMID:37507137  


Genomics

Comparative Map Data
SRGAP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381263,844,700 - 64,162,217 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1263,843,761 - 64,162,217 (+)EnsemblGRCh38hg38GRCh38
GRCh371264,238,480 - 64,555,997 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361262,524,808 - 62,823,841 (+)NCBINCBI36Build 36hg18NCBI36
Build 341262,524,807 - 62,823,827NCBI
Celera1263,903,548 - 64,206,828 (+)NCBICelera
Cytogenetic Map12q14.2NCBI
HuRef1261,290,158 - 61,593,347 (+)NCBIHuRef
CHM1_11264,206,267 - 64,509,435 (+)NCBICHM1_1
T2T-CHM13v2.01263,823,410 - 64,141,021 (+)NCBIT2T-CHM13v2.0
Srgap1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3910121,616,896 - 121,883,740 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl10121,616,896 - 121,883,220 (-)EnsemblGRCm39 Ensembl
GRCm3810121,780,991 - 122,047,911 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl10121,780,991 - 122,047,315 (-)EnsemblGRCm38mm10GRCm38
MGSCv3710121,222,298 - 121,484,249 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3610121,188,302 - 121,450,375 (-)NCBIMGSCv36mm8
Celera10124,170,327 - 124,436,483 (-)NCBICelera
Cytogenetic Map10D2NCBI
cM Map1069.96NCBI
Srgap1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8759,215,007 - 59,479,600 (-)NCBIGRCr8
mRatBN7.2757,329,532 - 57,594,681 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl757,329,532 - 57,596,196 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx759,234,813 - 59,501,455 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0761,437,683 - 61,704,315 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0761,215,405 - 61,482,043 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0763,968,915 - 64,251,449 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl763,973,279 - 64,251,110 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0764,192,305 - 64,472,925 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4761,372,294 - 61,633,209 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera754,326,023 - 54,585,733 (+)NCBICelera
Cytogenetic Map7q22NCBI
Srgap1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545810,841,896 - 10,991,500 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545810,842,745 - 10,991,500 (+)NCBIChiLan1.0ChiLan1.0
SRGAP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21030,191,993 - 30,514,237 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11230,203,110 - 30,511,008 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01224,760,093 - 25,066,794 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11225,257,695 - 25,565,053 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1225,262,893 - 25,564,180 (-)Ensemblpanpan1.1panPan2
SRGAP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1106,677,409 - 6,947,495 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl106,677,403 - 6,944,677 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha106,606,734 - 6,883,229 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0106,780,375 - 7,057,381 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl106,780,141 - 7,056,166 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1106,646,578 - 6,923,413 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0106,904,465 - 7,175,147 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0107,035,897 - 7,306,554 (+)NCBIUU_Cfam_GSD_1.0
Srgap1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494551,552,795 - 51,831,889 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365452,278,290 - 2,552,552 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365452,277,449 - 2,557,330 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SRGAP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl528,300,950 - 28,605,120 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1528,300,955 - 28,605,122 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2531,727,143 - 31,847,065 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SRGAP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11159,548,703 - 59,856,493 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1159,549,225 - 59,851,302 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037185,950,136 - 186,257,801 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Srgap1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248024,165,054 - 4,472,293 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248024,164,969 - 4,472,491 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SRGAP1
102 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_020762.2(SRGAP1):c.1198G>A (p.Glu400Lys) single nucleotide variant Malignant melanoma [RCV000070155] Chr12:64078991 [GRCh38]
Chr12:64472771 [GRCh37]
Chr12:62759038 [NCBI36]
Chr12:12q14.2		 not provided
NM_020762.2(SRGAP1):c.2505C>T (p.Ser835=) single nucleotide variant Malignant melanoma [RCV000070156] Chr12:64127689 [GRCh38]
Chr12:64521469 [GRCh37]
Chr12:62807736 [NCBI36]
Chr12:12q14.2		 not provided
NM_020762.2(SRGAP1):c.489+7088T>C single nucleotide variant Lung cancer [RCV000111198] Chr12:64024100 [GRCh38]
Chr12:64417880 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.2(SRGAP1):c.1409-1784T>A single nucleotide variant Lung cancer [RCV000111199] Chr12:64085215 [GRCh38]
Chr12:64478995 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.447A>C (p.Gln149His) single nucleotide variant Thyroid cancer, nonmedullary, 2 [RCV000190471] Chr12:64016970 [GRCh38]
Chr12:64410750 [GRCh37]
Chr12:12q14.2		 pathogenic
NM_020762.4(SRGAP1):c.823G>A (p.Ala275Thr) single nucleotide variant Thyroid cancer, nonmedullary, 2 [RCV000190472] Chr12:64062938 [GRCh38]
Chr12:64456718 [GRCh37]
Chr12:12q14.2		 pathogenic
NM_020762.4(SRGAP1):c.1849C>T (p.Arg617Cys) single nucleotide variant SRGAP1-related disorder [RCV003937675]|Thyroid cancer, nonmedullary, 2 [RCV000190473] Chr12:64108967 [GRCh38]
Chr12:64502747 [GRCh37]
Chr12:12q14.2		 risk factor|likely benign
NM_020762.4(SRGAP1):c.2734A>G (p.Arg912Gly) single nucleotide variant not specified [RCV001293603] Chr12:64128054 [GRCh38]
Chr12:64521834 [GRCh37]
Chr12:12q14.2		 uncertain significance
GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1 copy number loss See cases [RCV000138985] Chr12:60907151..66568077 [GRCh38]
Chr12:61300932..66961857 [GRCh37]
Chr12:59587199..65248124 [NCBI36]
Chr12:12q14.1-14.3		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
NM_020762.4(SRGAP1):c.2503T>C (p.Ser835Pro) single nucleotide variant not specified [RCV004313696] Chr12:64127687 [GRCh38]
Chr12:64521467 [GRCh37]
Chr12:12q14.2		 uncertain significance
GRCh37/hg19 12q14.1-15(chr12:59495114-70574966)x1 copy number loss See cases [RCV000447164] Chr12:59495114..70574966 [GRCh37]
Chr12:12q14.1-15		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_020762.4(SRGAP1):c.1869G>T (p.Leu623Phe) single nucleotide variant not specified [RCV004310085] Chr12:64108987 [GRCh38]
Chr12:64502767 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.3121A>G (p.Met1041Val) single nucleotide variant not specified [RCV004316831] Chr12:64142535 [GRCh38]
Chr12:64536315 [GRCh37]
Chr12:12q14.2		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q14.2(chr12:64399450-64404555)x1 copy number loss not provided [RCV000750438] Chr12:64399450..64404555 [GRCh37]
Chr12:12q14.2		 benign
NM_020762.4(SRGAP1):c.183G>A (p.Thr61=) single nucleotide variant not provided [RCV000927391] Chr12:63984062 [GRCh38]
Chr12:64377842 [GRCh37]
Chr12:12q14.2		 likely benign
NM_020762.4(SRGAP1):c.145C>T (p.Leu49=) single nucleotide variant not provided [RCV000899177] Chr12:63984024 [GRCh38]
Chr12:64377804 [GRCh37]
Chr12:12q14.2		 benign|likely benign
NM_020762.4(SRGAP1):c.673-4C>G single nucleotide variant not provided [RCV000901711] Chr12:64043443 [GRCh38]
Chr12:64437223 [GRCh37]
Chr12:12q14.2		 benign
NM_020762.4(SRGAP1):c.2304C>T (p.Ala768=) single nucleotide variant not provided [RCV000903442] Chr12:64126056 [GRCh38]
Chr12:64519836 [GRCh37]
Chr12:12q14.2		 benign
NM_020762.4(SRGAP1):c.2624A>G (p.His875Arg) single nucleotide variant not provided [RCV000964514] Chr12:64127944 [GRCh38]
Chr12:64521724 [GRCh37]
Chr12:12q14.2		 benign|likely benign
NM_020762.4(SRGAP1):c.2415G>A (p.Thr805=) single nucleotide variant not provided [RCV000948897] Chr12:64127599 [GRCh38]
Chr12:64521379 [GRCh37]
Chr12:12q14.2		 benign
NM_020762.4(SRGAP1):c.3042C>T (p.Asn1014=) single nucleotide variant not provided [RCV000898149] Chr12:64142456 [GRCh38]
Chr12:64536236 [GRCh37]
Chr12:12q14.2		 likely benign
NM_020762.4(SRGAP1):c.67+9G>A single nucleotide variant not provided [RCV000924485] Chr12:63844892 [GRCh38]
Chr12:64238672 [GRCh37]
Chr12:12q14.2		 likely benign
NM_020762.4(SRGAP1):c.2772C>T (p.His924=) single nucleotide variant not provided [RCV000947471] Chr12:64128092 [GRCh38]
Chr12:64521872 [GRCh37]
Chr12:12q14.2		 benign
NM_020762.4(SRGAP1):c.2124T>C (p.Cys708=) single nucleotide variant not provided [RCV000926505] Chr12:64111966 [GRCh38]
Chr12:64505746 [GRCh37]
Chr12:12q14.2		 likely benign
NM_020762.4(SRGAP1):c.2857C>G (p.Leu953Val) single nucleotide variant not provided [RCV000962473] Chr12:64128177 [GRCh38]
Chr12:64521957 [GRCh37]
Chr12:12q14.2		 benign
NM_020762.4(SRGAP1):c.1126-8A>G single nucleotide variant not provided [RCV000941508] Chr12:64078911 [GRCh38]
Chr12:64472691 [GRCh37]
Chr12:12q14.2		 likely benign
NM_020762.4(SRGAP1):c.2358C>T (p.Asn786=) single nucleotide variant SRGAP1-related disorder [RCV003936035]|not provided [RCV000967277] Chr12:64126110 [GRCh38]
Chr12:64519890 [GRCh37]
Chr12:12q14.2		 benign
NM_020762.4(SRGAP1):c.1113C>T (p.Ile371=) single nucleotide variant SRGAP1-related disorder [RCV003967993]|not provided [RCV000881650] Chr12:64065207 [GRCh38]
Chr12:64458987 [GRCh37]
Chr12:12q14.2		 benign
NM_020762.4(SRGAP1):c.2790C>T (p.Ile930=) single nucleotide variant not provided [RCV000942203] Chr12:64128110 [GRCh38]
Chr12:64521890 [GRCh37]
Chr12:12q14.2		 likely benign
NM_020762.4(SRGAP1):c.1705A>G (p.Ser569Gly) single nucleotide variant SRGAP1-related disorder [RCV003975537]|not provided [RCV000881651] Chr12:64097267 [GRCh38]
Chr12:64491047 [GRCh37]
Chr12:12q14.2		 benign|likely benign
NM_020762.4(SRGAP1):c.2225-7G>A single nucleotide variant Thyroid cancer, nonmedullary, 2 [RCV002505352]|not provided [RCV000915683] Chr12:64125970 [GRCh38]
Chr12:64519750 [GRCh37]
Chr12:12q14.2		 likely benign
NM_020762.4(SRGAP1):c.1137G>A (p.Thr379=) single nucleotide variant SRGAP1-related disorder [RCV003916020]|not provided [RCV000960383] Chr12:64078930 [GRCh38]
Chr12:64472710 [GRCh37]
Chr12:12q14.2		 benign
NM_020762.4(SRGAP1):c.806G>A (p.Cys269Tyr) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV000845117]|Nephronophthisis [RCV001254705] Chr12:64062921 [GRCh38]
Chr12:64456701 [GRCh37]
Chr12:12q14.2		 pathogenic|uncertain significance
NM_020762.4(SRGAP1):c.1993C>A (p.Pro665Thr) single nucleotide variant Congenital anomalies of kidney and urinary tract 1 [RCV001254691]|Congenital anomaly of kidney and urinary tract [RCV000845118] Chr12:64111835 [GRCh38]
Chr12:64505615 [GRCh37]
Chr12:12q14.2		 pathogenic|uncertain significance
NM_020762.4(SRGAP1):c.2768G>A (p.Arg923Gln) single nucleotide variant not specified [RCV004319172] Chr12:64128088 [GRCh38]
Chr12:64521868 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.3084G>A (p.Thr1028=) single nucleotide variant not provided [RCV000894075] Chr12:64142498 [GRCh38]
Chr12:64536278 [GRCh37]
Chr12:12q14.2		 benign
NM_020762.4(SRGAP1):c.1540-10C>T single nucleotide variant SRGAP1-related disorder [RCV003923134]|not provided [RCV000910292] Chr12:64094922 [GRCh38]
Chr12:64488702 [GRCh37]
Chr12:12q14.2		 benign
NM_020762.4(SRGAP1):c.1734C>G (p.Gly578=) single nucleotide variant not provided [RCV000910859] Chr12:64097296 [GRCh38]
Chr12:64491076 [GRCh37]
Chr12:12q14.2		 likely benign
NM_020762.4(SRGAP1):c.1533C>T (p.Phe511=) single nucleotide variant not provided [RCV000943218] Chr12:64091372 [GRCh38]
Chr12:64485152 [GRCh37]
Chr12:12q14.2		 likely benign
NM_020762.4(SRGAP1):c.1919+8C>T single nucleotide variant not provided [RCV000935023] Chr12:64109045 [GRCh38]
Chr12:64502825 [GRCh37]
Chr12:12q14.2		 likely benign
NM_020762.4(SRGAP1):c.731_732insAG (p.Leu245fs) insertion Thyroid cancer, nonmedullary, 2 [RCV001198764] Chr12:64043505..64043506 [GRCh38]
Chr12:64437285..64437286 [GRCh37]
Chr12:12q14.2		 uncertain significance
NC_000012.12:g.(?_63779951)_(64501391_?)dup duplication not provided [RCV001033402] Chr12:64173731..64895171 [GRCh37]
Chr12:12q14.2		 uncertain significance
NC_000012.11:g.(?_64173731)_(64895171_?)dup duplication not provided [RCV001314630] Chr12:64173731..64895171 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.2063T>C (p.Ile688Thr) single nucleotide variant not provided [RCV001357089] Chr12:64111905 [GRCh38]
Chr12:64505685 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.182C>T (p.Thr61Met) single nucleotide variant Thyroid cancer, nonmedullary, 2 [RCV001358543]|not specified [RCV004034505] Chr12:63984061 [GRCh38]
Chr12:64377841 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.2566C>G (p.Pro856Ala) single nucleotide variant Congenital anomaly of kidney and urinary tract [RCV001328151] Chr12:64127886 [GRCh38]
Chr12:64521666 [GRCh37]
Chr12:12q14.2		 uncertain significance
NC_000012.11:g.(?_64173741)_(65857102_?)del deletion Mucopolysaccharidosis, MPS-III-D [RCV001920699] Chr12:64173741..65857102 [GRCh37]
Chr12:12q14.2-14.3		 pathogenic
NC_000012.11:g.(?_64198994)_(64238683_?)dup duplication not provided [RCV003116725] Chr12:64198994..64238683 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.760G>A (p.Val254Ile) single nucleotide variant not provided [RCV002292866] Chr12:64043534 [GRCh38]
Chr12:64437314 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.3017C>T (p.Thr1006Met) single nucleotide variant not specified [RCV004310145] Chr12:64142431 [GRCh38]
Chr12:64536211 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.1496A>G (p.Tyr499Cys) single nucleotide variant not specified [RCV004228830] Chr12:64091335 [GRCh38]
Chr12:64485115 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.2146G>A (p.Asp716Asn) single nucleotide variant not specified [RCV004238374] Chr12:64115815 [GRCh38]
Chr12:64509595 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.3233C>T (p.Pro1078Leu) single nucleotide variant not specified [RCV004164350] Chr12:64142647 [GRCh38]
Chr12:64536427 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.2551A>G (p.Arg851Gly) single nucleotide variant not specified [RCV004140709] Chr12:64127871 [GRCh38]
Chr12:64521651 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.1164A>C (p.Gln388His) single nucleotide variant not specified [RCV004125812] Chr12:64078957 [GRCh38]
Chr12:64472737 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.2847C>A (p.Asp949Glu) single nucleotide variant not specified [RCV004124998] Chr12:64128167 [GRCh38]
Chr12:64521947 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.2515C>G (p.Arg839Gly) single nucleotide variant not specified [RCV004133026] Chr12:64127699 [GRCh38]
Chr12:64521479 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.3083C>T (p.Thr1028Met) single nucleotide variant not specified [RCV004193099] Chr12:64142497 [GRCh38]
Chr12:64536277 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.3240C>G (p.Asp1080Glu) single nucleotide variant not specified [RCV004099583] Chr12:64142654 [GRCh38]
Chr12:64536434 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.2077A>G (p.Ile693Val) single nucleotide variant not specified [RCV004098191] Chr12:64111919 [GRCh38]
Chr12:64505699 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.207G>C (p.Lys69Asn) single nucleotide variant not specified [RCV004176719] Chr12:63984086 [GRCh38]
Chr12:64377866 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.940G>A (p.Asp314Asn) single nucleotide variant not specified [RCV004137462] Chr12:64063055 [GRCh38]
Chr12:64456835 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.1850G>A (p.Arg617His) single nucleotide variant not specified [RCV004223612] Chr12:64108968 [GRCh38]
Chr12:64502748 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.1138A>T (p.Thr380Ser) single nucleotide variant not specified [RCV004219159] Chr12:64078931 [GRCh38]
Chr12:64472711 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.719G>A (p.Arg240Gln) single nucleotide variant not specified [RCV004194467] Chr12:64043493 [GRCh38]
Chr12:64437273 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.631C>T (p.Arg211Trp) single nucleotide variant not specified [RCV004599541] Chr12:64042931 [GRCh38]
Chr12:64436711 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.1906G>T (p.Ala636Ser) single nucleotide variant not specified [RCV004077683] Chr12:64109024 [GRCh38]
Chr12:64502804 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.2834C>T (p.Thr945Met) single nucleotide variant not specified [RCV004228469] Chr12:64128154 [GRCh38]
Chr12:64521934 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.3077G>A (p.Arg1026His) single nucleotide variant not specified [RCV004248845] Chr12:64142491 [GRCh38]
Chr12:64536271 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.2600G>T (p.Gly867Val) single nucleotide variant not specified [RCV004280939] Chr12:64127920 [GRCh38]
Chr12:64521700 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.2562A>G (p.Pro854=) single nucleotide variant not provided [RCV003398174] Chr12:64127882 [GRCh38]
Chr12:64521662 [GRCh37]
Chr12:12q14.2		 likely benign
NM_020762.4(SRGAP1):c.851A>G (p.Tyr284Cys) single nucleotide variant not specified [RCV004358808] Chr12:64062966 [GRCh38]
Chr12:64456746 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.2825G>A (p.Gly942Glu) single nucleotide variant not specified [RCV004338107] Chr12:64128145 [GRCh38]
Chr12:64521925 [GRCh37]
Chr12:12q14.2		 uncertain significance
GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1 copy number loss not provided [RCV003483154] Chr12:61755618..70035424 [GRCh37]
Chr12:12q14.1-15		 pathogenic
NM_020762.4(SRGAP1):c.1023+29G>A single nucleotide variant not provided [RCV003398172] Chr12:64063167 [GRCh38]
Chr12:64456947 [GRCh37]
Chr12:12q14.2		 benign
NM_020762.4(SRGAP1):c.1613_1614del (p.Gln538fs) deletion not provided [RCV003398173] Chr12:64095139..64095140 [GRCh38]
Chr12:64488919..64488920 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.2698C>G (p.Arg900Gly) single nucleotide variant SRGAP1-related disorder [RCV003416947] Chr12:64128018 [GRCh38]
Chr12:64521798 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.805_806delinsGT (p.Cys269Val) indel SRGAP1-related disorder [RCV003402818] Chr12:64062920..64062921 [GRCh38]
Chr12:64456700..64456701 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.2367C>T (p.Asp789=) single nucleotide variant SRGAP1-related disorder [RCV003939609] Chr12:64126119 [GRCh38]
Chr12:64519899 [GRCh37]
Chr12:12q14.2		 likely benign
NM_020762.4(SRGAP1):c.1476G>A (p.Lys492=) single nucleotide variant SRGAP1-related disorder [RCV003939621] Chr12:64091315 [GRCh38]
Chr12:64485095 [GRCh37]
Chr12:12q14.2		 likely benign
NM_020762.4(SRGAP1):c.161G>A (p.Arg54Gln) single nucleotide variant SRGAP1-related disorder [RCV003947121] Chr12:63984040 [GRCh38]
Chr12:64377820 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.427-4A>T single nucleotide variant SRGAP1-related disorder [RCV003964553] Chr12:64016946 [GRCh38]
Chr12:64410726 [GRCh37]
Chr12:12q14.2		 likely benign
NM_020762.4(SRGAP1):c.1324-9dup duplication SRGAP1-related disorder [RCV003921684] Chr12:64080275..64080276 [GRCh38]
Chr12:64474055..64474056 [GRCh37]
Chr12:12q14.2		 likely benign
NM_020762.4(SRGAP1):c.1323+6C>T single nucleotide variant SRGAP1-related disorder [RCV003899549] Chr12:64079122 [GRCh38]
Chr12:64472902 [GRCh37]
Chr12:12q14.2		 likely benign
NM_020762.4(SRGAP1):c.555C>T (p.Ala185=) single nucleotide variant SRGAP1-related disorder [RCV003897060] Chr12:64042855 [GRCh38]
Chr12:64436635 [GRCh37]
Chr12:12q14.2		 likely benign
NM_020762.4(SRGAP1):c.5C>A (p.Ser2Tyr) single nucleotide variant SRGAP1-related disorder [RCV004755502] Chr12:63844821 [GRCh38]
Chr12:64238601 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.2279G>A (p.Arg760Lys) single nucleotide variant SRGAP1-related disorder [RCV003894243] Chr12:64126031 [GRCh38]
Chr12:64519811 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.1658T>C (p.Ile553Thr) single nucleotide variant not specified [RCV004458316] Chr12:64095184 [GRCh38]
Chr12:64488964 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.488C>T (p.Thr163Met) single nucleotide variant not specified [RCV004458326] Chr12:64017011 [GRCh38]
Chr12:64410791 [GRCh37]
Chr12:12q14.2		 uncertain significance
GRCh38/hg38 12q14.2-15(chr12:63871239-67314524) copy number loss Silver-Russell syndrome 5 [RCV004547403] Chr12:63871239..67314524 [GRCh38]
Chr12:12q14.2-15		 uncertain significance
NM_020762.4(SRGAP1):c.2111T>G (p.Val704Gly) single nucleotide variant not specified [RCV004458318] Chr12:64111953 [GRCh38]
Chr12:64505733 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.2491A>G (p.Lys831Glu) single nucleotide variant not specified [RCV004458320] Chr12:64127675 [GRCh38]
Chr12:64521455 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.2731C>T (p.Arg911Cys) single nucleotide variant not specified [RCV004458322] Chr12:64128051 [GRCh38]
Chr12:64521831 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.1217G>A (p.Arg406His) single nucleotide variant not specified [RCV004458315] Chr12:64079010 [GRCh38]
Chr12:64472790 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.1744C>T (p.Leu582Phe) single nucleotide variant not specified [RCV004458317] Chr12:64097306 [GRCh38]
Chr12:64491086 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.222C>A (p.Phe74Leu) single nucleotide variant not specified [RCV004458319] Chr12:63984101 [GRCh38]
Chr12:64377881 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.2537C>T (p.Ala846Val) single nucleotide variant not specified [RCV004458321] Chr12:64127721 [GRCh38]
Chr12:64521501 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.2751C>G (p.Ser917Arg) single nucleotide variant not specified [RCV004458323] Chr12:64128071 [GRCh38]
Chr12:64521851 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.3107G>A (p.Ser1036Asn) single nucleotide variant not specified [RCV004458324] Chr12:64142521 [GRCh38]
Chr12:64536301 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.452A>T (p.His151Leu) single nucleotide variant not specified [RCV004458325] Chr12:64016975 [GRCh38]
Chr12:64410755 [GRCh37]
Chr12:12q14.2		 uncertain significance
NC_000012.11:g.(?_64173741)_(68052493_?)del deletion Mucopolysaccharidosis, MPS-III-D [RCV004578369] Chr12:64173741..68052493 [GRCh37]
Chr12:12q14.2-15		 pathogenic
NM_020762.4(SRGAP1):c.2767C>T (p.Arg923Trp) single nucleotide variant not specified [RCV004675350] Chr12:64128087 [GRCh38]
Chr12:64521867 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.3076C>T (p.Arg1026Cys) single nucleotide variant not specified [RCV004679470] Chr12:64142490 [GRCh38]
Chr12:64536270 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.1786A>G (p.Arg596Gly) single nucleotide variant not specified [RCV004679471] Chr12:64097348 [GRCh38]
Chr12:64491128 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.936G>A (p.Arg312=) single nucleotide variant SRGAP1-related disorder [RCV004732052] Chr12:64063051 [GRCh38]
Chr12:64456831 [GRCh37]
Chr12:12q14.2		 likely benign
NM_020762.4(SRGAP1):c.799G>T (p.Asp267Tyr) single nucleotide variant SRGAP1-related disorder [RCV004732285] Chr12:64043573 [GRCh38]
Chr12:64437353 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.2881G>A (p.Asp961Asn) single nucleotide variant not provided [RCV004699006] Chr12:64142295 [GRCh38]
Chr12:64536075 [GRCh37]
Chr12:12q14.2		 uncertain significance
NM_020762.4(SRGAP1):c.2166C>T (p.His722=) single nucleotide variant SRGAP1-related disorder [RCV004755407] Chr12:64115835 [GRCh38]
Chr12:64509615 [GRCh37]
Chr12:12q14.2		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR214hsa-miR-214-3pMirtarbaseexternal_infoIn situ hybridization//Luciferase reporter assay//Functional MTI21276775

Predicted Target Of
Summary Value
Count of predictions:6306
Count of miRNA genes:1242
Interacting mature miRNAs:1562
Transcripts:ENST00000355086, ENST00000357825, ENST00000537556, ENST00000537585, ENST00000542381, ENST00000542841, ENST00000543397
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597117205GWAS1213279_Hcognitive function measurement QTL GWAS1213279 (human)5e-08cognitive function measurement126411447864114479Human
407115335GWAS764311_Hcerebral microbleeds QTL GWAS764311 (human)0.000003cerebral microbleeds126402776864027769Human
407001893GWAS650869_Hadolescent idiopathic scoliosis QTL GWAS650869 (human)2e-17adolescent idiopathic scoliosis126402794264027943Human
597109456GWAS1205530_Hmathematical ability QTL GWAS1205530 (human)2e-08mathematical ability126414718064147181Human
597406451GWAS1502525_Hbody mass index QTL GWAS1502525 (human)3e-08body mass indexbody mass index (BMI) (CMO:0000105)126387194463871945Human
597616022GWAS1672882_HSplenomegaly QTL GWAS1672882 (human)7e-14Splenomegaly126390402063904021Human
406965160GWAS614136_Hmalignant epithelial tumor of ovary QTL GWAS614136 (human)0.0000001malignant epithelial tumor of ovary126387105763871058Human
597041183GWAS1137257_Hbody height QTL GWAS1137257 (human)3e-12body height (VT:0001253)body height (CMO:0000106)126407752764077528Human
597132188GWAS1228262_Hmemory performance, sex interaction measurement QTL GWAS1228262 (human)0.000003memory performance, sex interaction measurement126400680564006806Human
597255698GWAS1351772_Hpancreatic carcinoma QTL GWAS1351772 (human)0.000004pancreatic carcinoma126409158064091581Human
597079258GWAS1175332_HPR interval QTL GWAS1175332 (human)1e-11PR intervalPR interval (CMO:0000233)126388923463889235Human
596979130GWAS1098649_Hbody height QTL GWAS1098649 (human)5e-11body height (VT:0001253)body height (CMO:0000106)126405759964057600Human
596988067GWAS1107586_Hmemory performance, sex interaction measurement QTL GWAS1107586 (human)0.000003memory performance, sex interaction measurement126400680564006806Human
597221697GWAS1317771_Hbody height QTL GWAS1317771 (human)9e-62body height (VT:0001253)body height (CMO:0000106)126409158064091581Human
597476582GWAS1572656_Hself reported educational attainment QTL GWAS1572656 (human)8e-09self reported educational attainment126412778764127788Human
406948122GWAS597098_HPR interval QTL GWAS597098 (human)7e-11PR intervalPR interval (CMO:0000233)126389050363890504Human
407220222GWAS869198_Htrauma exposure measurement QTL GWAS869198 (human)8e-08trauma exposure measurement126389628263896283Human
597321889GWAS1417963_Hcolorectal cancer QTL GWAS1417963 (human)1e-08colorectal cancer126401077564010776Human
597353121GWAS1449195_Hbody height QTL GWAS1449195 (human)2e-10body height (VT:0001253)body height (CMO:0000106)126404865564048656Human
597299206GWAS1395280_Hbody height QTL GWAS1395280 (human)5e-11body height (VT:0001253)body height (CMO:0000106)126405759964057600Human
597175652GWAS1271726_Heducational attainment QTL GWAS1271726 (human)1e-12educational attainment126414718064147181Human
597070760GWAS1166834_Hjoint damage measurement QTL GWAS1166834 (human)0.000004joint damage measurement126391883063918831Human
597344164GWAS1440238_Hcolor vision disorder QTL GWAS1440238 (human)0.0000002color vision disorder126407006264070063Human

Markers in Region
RH80302  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371264,540,372 - 64,540,606UniSTSGRCh37
Build 361262,826,639 - 62,826,873RGDNCBI36
Celera1264,205,587 - 64,205,821RGD
Cytogenetic Map12q14.2UniSTS
HuRef1261,592,106 - 61,592,340UniSTS
GeneMap99-GB4 RH Map12278.26UniSTS
D12S1244E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371264,476,814 - 64,476,988UniSTSGRCh37
Build 361262,763,081 - 62,763,255RGDNCBI36
Celera1264,142,013 - 64,142,187RGD
Cytogenetic Map12q14.2UniSTS
HuRef1261,528,512 - 61,528,686UniSTS
G64476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371264,414,665 - 64,414,923UniSTSGRCh37
Build 361262,700,932 - 62,701,190RGDNCBI36
Celera1264,079,852 - 64,080,110RGD
Cytogenetic Map12q14.2UniSTS
HuRef1261,467,053 - 61,467,311UniSTS
G64477  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371264,366,297 - 64,366,515UniSTSGRCh37
Build 361262,652,564 - 62,652,782RGDNCBI36
Celera1264,031,499 - 64,031,717RGD
Cytogenetic Map12q14.2UniSTS
HuRef1261,418,692 - 61,418,910UniSTS
G64739  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371264,451,882 - 64,452,022UniSTSGRCh37
Build 361262,738,149 - 62,738,289RGDNCBI36
Celera1264,117,066 - 64,117,206RGD
Cytogenetic Map12q14.2UniSTS
HuRef1261,504,287 - 61,504,427UniSTS
SHGC-142899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371264,423,317 - 64,423,453UniSTSGRCh37
Build 361262,709,584 - 62,709,720RGDNCBI36
Celera1264,088,504 - 64,088,640RGD
Cytogenetic Map12q14.2UniSTS
HuRef1261,475,706 - 61,475,842UniSTS
RH44524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371264,540,372 - 64,540,543UniSTSGRCh37
Build 361262,826,639 - 62,826,810RGDNCBI36
Celera1264,205,587 - 64,205,758RGD
Cytogenetic Map12q14.2UniSTS
HuRef1261,592,106 - 61,592,277UniSTS
GeneMap99-GB4 RH Map12288.19UniSTS
RH68563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371264,475,318 - 64,475,530UniSTSGRCh37
Build 361262,761,585 - 62,761,797RGDNCBI36
Celera1264,140,517 - 64,140,729RGD
Cytogenetic Map12q14.2UniSTS
HuRef1261,527,012 - 61,527,224UniSTS
GeneMap99-GB4 RH Map12276.92UniSTS
D12S1535  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371264,283,187 - 64,283,301UniSTSGRCh37
Build 361262,569,454 - 62,569,568RGDNCBI36
Celera1263,948,433 - 63,948,547RGD
Cytogenetic Map12q14.2UniSTS
HuRef1261,335,197 - 61,335,311UniSTS
G20419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371264,476,822 - 64,477,060UniSTSGRCh37
Build 361262,763,089 - 62,763,327RGDNCBI36
Celera1264,142,021 - 64,142,259RGD
Cytogenetic Map12q14.2UniSTS
HuRef1261,528,520 - 61,528,758UniSTS
A005Q32  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371264,476,822 - 64,477,060UniSTSGRCh37
Build 361262,763,089 - 62,763,327RGDNCBI36
Celera1264,142,021 - 64,142,259RGD
Cytogenetic Map12q14.2UniSTS
HuRef1261,528,520 - 61,528,758UniSTS
GeneMap99-GB4 RH Map12277.51UniSTS
D14S1430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371264,511,151 - 64,512,170UniSTSGRCh37
GRCh371423,707,844 - 23,708,015UniSTSGRCh37
Build 361422,777,684 - 22,777,855RGDNCBI36
Celera1264,176,349 - 64,177,368UniSTS
Celera143,570,543 - 3,570,714RGD
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map12q14.2UniSTS
HuRef1261,562,855 - 61,563,874UniSTS
HuRef143,824,342 - 3,824,513UniSTS
A004M33  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371264,537,295 - 64,537,411UniSTSGRCh37
Build 361262,823,562 - 62,823,678RGDNCBI36
Celera1264,202,494 - 64,202,610RGD
Cytogenetic Map12q14.2UniSTS
HuRef1261,589,007 - 61,589,123UniSTS
GeneMap99-GB4 RH Map12277.77UniSTS
SHGC-7187  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371264,487,278 - 64,487,456UniSTSGRCh37
Build 361262,773,545 - 62,773,723RGDNCBI36
Celera1264,152,478 - 64,152,656RGD
Cytogenetic Map12q14.2UniSTS
HuRef1261,538,976 - 61,539,154UniSTS
Stanford-G3 RH Map122651.0UniSTS
NCBI RH Map12500.8UniSTS
RH44473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371264,537,427 - 64,537,549UniSTSGRCh37
Build 361262,823,694 - 62,823,816RGDNCBI36
Celera1264,202,626 - 64,202,737RGD
Cytogenetic Map12q14.2UniSTS
HuRef1261,589,139 - 61,589,261UniSTS
GeneMap99-GB4 RH Map12277.77UniSTS
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
D12S1232E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q14.2UniSTS
HuRef1261,573,465 - 61,573,608UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2247 4973 1725 2350 5 623 1907 464 2269 7262 6429 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001346201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054372645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB037725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC020611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC084357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI216583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC006127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC053903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR000178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LS482421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  ON249121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000355086   ⟹   ENSP00000347198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1263,844,700 - 64,162,217 (+)Ensembl
Ensembl Acc Id: ENST00000537556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1263,844,803 - 64,081,924 (+)Ensembl
Ensembl Acc Id: ENST00000537585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1264,111,811 - 64,116,005 (+)Ensembl
Ensembl Acc Id: ENST00000542381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1264,042,794 - 64,043,627 (+)Ensembl
Ensembl Acc Id: ENST00000542841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1264,127,637 - 64,142,566 (+)Ensembl
Ensembl Acc Id: ENST00000543397   ⟹   ENSP00000437948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1263,982,525 - 64,143,780 (+)Ensembl
Ensembl Acc Id: ENST00000631006   ⟹   ENSP00000485752
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1263,843,761 - 64,147,833 (+)Ensembl
Ensembl Acc Id: ENST00000695902   ⟹   ENSP00000512252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1263,844,730 - 64,042,975 (+)Ensembl
RefSeq Acc Id: NM_001346201   ⟹   NP_001333130
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381263,844,700 - 64,162,217 (+)NCBI
T2T-CHM13v2.01263,823,410 - 64,141,021 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020762   ⟹   NP_065813
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381263,844,700 - 64,162,217 (+)NCBI
GRCh371264,238,276 - 64,541,643 (+)NCBI
Build 361262,524,808 - 62,823,841 (+)NCBI Archive
Celera1263,903,548 - 64,206,828 (+)RGD
HuRef1261,290,158 - 61,593,347 (+)ENTREZGENE
CHM1_11264,206,267 - 64,509,435 (+)NCBI
T2T-CHM13v2.01263,823,410 - 64,141,021 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449096   ⟹   XP_024304864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381263,844,700 - 64,097,323 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449097   ⟹   XP_024304865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381263,844,700 - 64,094,925 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054372644   ⟹   XP_054228619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01263,823,410 - 64,076,132 (+)NCBI
RefSeq Acc Id: XM_054372645   ⟹   XP_054228620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01263,823,410 - 64,073,734 (+)NCBI
RefSeq Acc Id: NP_065813   ⟸   NM_020762
- Peptide Label: isoform 1
- UniProtKB: Q7Z6B7 (UniProtKB/Swiss-Prot),   Q9H8A3 (UniProtKB/Swiss-Prot),   Q9P2P2 (UniProtKB/Swiss-Prot),   A0A2X0SFI2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304864   ⟸   XM_024449096
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024304865   ⟸   XM_024449097
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001333130   ⟸   NM_001346201
- Peptide Label: isoform 2
- UniProtKB: A0A2X0SFI2 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000437948   ⟸   ENST00000543397
Ensembl Acc Id: ENSP00000347198   ⟸   ENST00000355086
Ensembl Acc Id: ENSP00000485752   ⟸   ENST00000631006
Ensembl Acc Id: ENSP00000512252   ⟸   ENST00000695902
RefSeq Acc Id: XP_054228619   ⟸   XM_054372644
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054228620   ⟸   XM_054372645
- Peptide Label: isoform X2
Protein Domains
F-BAR   Rho-GAP   SH3

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7Z6B7-F1-model_v2 AlphaFold Q7Z6B7 1-1085 view protein structure

Promoters
RGD ID:6790514
Promoter ID:HG_KWN:16052
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Lymphoblastoid,   NB4
Transcripts:ENST00000357825,   NM_020762,   UC001SRT.2,   UC001SRU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361262,523,941 - 62,525,037 (+)MPROMDB
RGD ID:7224663
Promoter ID:EPDNEW_H18077
Type:initiation region
Name:SRGAP1_1
Description:SLIT-ROBO Rho GTPase activating protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18078  EPDNEW_H18079  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381263,844,090 - 63,844,150EPDNEW
RGD ID:7224665
Promoter ID:EPDNEW_H18078
Type:initiation region
Name:SRGAP1_2
Description:SLIT-ROBO Rho GTPase activating protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18077  EPDNEW_H18079  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381263,844,249 - 63,844,309EPDNEW
RGD ID:7224667
Promoter ID:EPDNEW_H18079
Type:initiation region
Name:SRGAP1_3
Description:SLIT-ROBO Rho GTPase activating protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H18077  EPDNEW_H18078  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381263,844,701 - 63,844,761EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17382 AgrOrtholog
COSMIC SRGAP1 COSMIC
Ensembl Genes ENSG00000196935 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000355086 ENTREZGENE
  ENST00000355086.8 UniProtKB/Swiss-Prot
  ENST00000631006 ENTREZGENE
  ENST00000631006.2 UniProtKB/TrEMBL
  ENST00000631006.3 UniProtKB/Swiss-Prot
  ENST00000695902.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.555.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.20.1270.60 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 Domains UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196935 GTEx
HGNC ID HGNC:17382 ENTREZGENE
Human Proteome Map SRGAP1 Human Proteome Map
InterPro AH/BAR_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  F_BAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FCH_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rho_GTPase_activation_prot UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLIT-ROBO_RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  srGAP1/2/3_SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  srGAP1_F-BAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57522 UniProtKB/Swiss-Prot
NCBI Gene 57522 ENTREZGENE
OMIM 606523 OMIM
PANTHER SLIT-ROBO RHO GTPASE ACTIVATING PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134887956 PharmGKB
PROSITE F_BAR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHOGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF103657 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48350 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50044 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2X0SFI2 ENTREZGENE, UniProtKB/TrEMBL
  A0A8Q3WKV0_HUMAN UniProtKB/TrEMBL
  G5EA48_HUMAN UniProtKB/TrEMBL
  L0R5D0_HUMAN UniProtKB/TrEMBL
  Q7Z6B7 ENTREZGENE
  Q9H8A3 ENTREZGENE
  Q9P2P2 ENTREZGENE
  SRGP1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q9H8A3 UniProtKB/Swiss-Prot
  Q9P2P2 UniProtKB/Swiss-Prot