NCBI
Human genome overview page (Annotation Release 108)
Human genome overview page (Annotation Release 105)
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Region Shown:

Homo sapiens (human)  Annotation Release 108 (Current)BLAST human sequences
Chromosome: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 [ 17 ] 18 19 20 21 22 X Y MT
Query: GAA    [clear]
 Master Map: Phenotype (includes QTLs) Summary of Maps mapsnoptions.gif 
Region Displayed: 79,280K-80,950K bp   Download/View Sequence/Evidence

Summary of Maps:
Map 1: unknown map "snp"
Region Displayed: 0.95-0.98 unknown_units
Map 2: Genes On SequenceTable View
Region Displayed: 79,280K-80,950K bp   Download/View Sequence/Evidence
Total Genes On Chromosome: 2432 [7 not localized]
Genes Labeled: 32 Total Genes in Region: 32
Map 3: Phenotype (includes QTLs)Table View
Region Displayed: 79,280K-80,950K bp   Download/View Sequence/Evidence
Total Phenotypes On Chromosome: 197
Phenotypes Labeled: 6 Total Phenotypes in Region: 6
Gene GAA
hCG_27920
acid alpha-glucosidase|acid maltase|lysosomal alpha-glucosidase
lysosomal alpha-glucosidase
aglucosidase alfa
acid maltase|aglucosidase alfa|lysosomal alpha-glucosidase
acid maltase
acid alpha-glucosidase|acid maltase|aglucosidase alfa|lysosomal alpha-glucosidase
acid alpha-glucosidase
Aliases
LYAG, GAA
Gene NPTX1
NP-I
neuronal pentraxin-1
NP-I|neuronal pentraxin-1
hCG_96645
neuronal pentraxin I
Aliases
MGC105123, DKFZp686J2446, NP1, NPTX1
Gene SGSH
hCG_28568
heparan sulfate sulfatase
sulfoglucosamine sulfamidase
N-sulphoglucosamine sulphohydrolase
heparan sulfate sulfatase|sulfamidase|sulfoglucosamine sulfamidase
sulfamidase
sulphamidase
N-sulphoglucosamine sulphohydrolase|heparan sulfate sulfatase|sulfoglucosamine sulfamidase|sulphamidase
mucopolysaccharidosis type IIIA
Aliases
HSS, SGSH, MPS3A, SFMD
Gene CBX4
Pc class 2 homolog
OTTHUMP00000197309
E3 SUMO-protein ligase CBX4|NS5ATP1-binding protein 16|OTTHUMP00000197309|Pc class 2 homolog|chromobox homolog 4 (Pc class homolog, Drosophila)|chromobox protein homolog 4|polycomb 2 homolog
chromobox homolog 4 (Pc class homolog, Drosophila)
OTTHUMP00000197308
chromobox homolog 4
NS5ATP1-binding protein 16|chromobox homolog 4
E3 SUMO-protein ligase CBX4|NS5ATP1-binding protein 16|chromobox protein homolog 4|polycomb 2 homolog
E3 SUMO-protein ligase CBX4
polycomb 2 homolog
NS5ATP1-binding protein 16
chromobox protein homolog 4
hCG_28566
chromobox-like protein 4
Aliases
PC2, hPC2, CBX4, NBP16
Gene EIF4A3
ATP-dependent RNA helicase DDX48|ATP-dependent RNA helicase eIF4A-3|DEAD (Asp-Glu-Ala-Asp) box polypeptide 48|DEAD box protein 48|NMP 265|eIF-4A-III|eIF4A-III|eukaryotic initiation factor 4A-III|eukaryotic initiation factor 4A-like NUK-34|eukaryotic translation initiation factor 4A|hNMP 265|nuclear matrix protein 265
hCG_28565
eukaryotic translation initiation factor 4A
NMP 265
eIF4A-III
eIF-4A-III
hNMP 265
eukaryotic initiation factor 4A-III
DEAD (Asp-Glu-Ala-Asp) box polypeptide 48
ATP-dependent RNA helicase DDX48|ATP-dependent RNA helicase eIF4A-3|DEAD (Asp-Glu-Ala-Asp) box polypeptide 48|DEAD box protein 48|NMP 265|eIF-4A-III|eIF4A-III|eukaryotic initiation factor 4A-III|eukaryotic initiation factor 4A-like NUK-34|eukaryotic translation initiation factor 4A, isoform 3|hNMP 265|nuclear matrix protein 265
eukaryotic initiation factor 4A-like NUK-34
ATP-dependent RNA helicase eIF4A-3
DEAD (Asp-Glu-Ala-Asp) box polypeptide 48|eukaryotic initiation factor 4A-like NUK-34
nuclear matrix protein 265
ATP-dependent RNA helicase DDX48|ATP-dependent RNA helicase eIF4A-3|DEAD (Asp-Glu-Ala-Asp) box polypeptide 48|eukaryotic initiation factor 4A-like NUK-34|eukaryotic initiation factor 4AIII|eukaryotic translation initiation factor 4A, isoform 3|nuclear matrix protein 265
DEAD box protein 48
ATP-dependent RNA helicase DDX48
eukaryotic initiation factor 4AIII
Aliases
RCPS, MUK34, Fal1, NUK-34, NMP265, DDX48, EIF4A3, hNMP265, eIF4AIII, MGC10862, KIAA0111, NUK34, DKFZp686O16189
Gene CCDC40
OTTHUMP00000163559|coiled-coil domain-containing protein 40
coiled-coil domain-containing protein 40
OTTHUMP00000163559
Aliases
CILD15, FLJ32021, FLJ20753, CCDC40, KIAA1640, FAP172
Gene CBX8
chromobox homolog 8 (Pc class homolog, Drosophila)
OTTHUMP00000197310
Pc class 3 homolog
OTTHUMP00000197312
OTTHUMP00000197311
chromobox protein homolog 8
chromobox protein homolog 8|polycomb 3|rectachrome 1
chromobox homolog 8|polycomb 3
polycomb 3
chromobox homolog 8
rectachrome 1
OTTHUMP00000197311|OTTHUMP00000197312|Pc class 3 homolog|chromobox homolog 8 (Pc class homolog, Drosophila)|chromobox protein homolog 8|polycomb 3|rectachrome 1
hCG_28570
Aliases
RC1, CBX8, HPC3, PC3
Gene RPTOR
p150 target of rapamycin (TOR)-scaffold protein containing WD-repeats|raptor|regulatory-associated protein of mTOR
regulatory-associated protein of mTOR
p150 target of rapamycin (TOR)-scaffold protein containing WD-repeats|raptor
raptor
p150 target of rapamycin (TOR)-scaffold protein containing WD-repeats
hCG_27278
regulatory associated protein of MTOR, complex 1
Aliases
KIAA1303, KOG1, Mip1, RPTOR
Gene RNF213
OTTHUMP00000220197
RING finger protein 213
protein ALO17
ALK lymphoma oligomerization partner on chromosome 17
ALK lymphoma oligomerization partner on chromosome 17|protein ALO17
ALK lymphoma oligomerization partner on chromosome 17|OTTHUMP00000220197|protein ALO17
hCG_2039053
RING-type E3 ubiquitin transferase RNF213
E3 ubiquitin-protein ligase RNF213
Aliases
ALO17, MYMY2, mysterin, mystr, KIAA1618, MGC9929, FLJ13051, C17orf27, KIAA1554, DKFZp762N1115, RNF213, NET57, MGC46622, MYSTR
Gene CARD14
caspase recruitment domain family, member 14
carma 2
CARD-containing MAGUK 2 protein|bcl10-interacting maguk protein 2|card-maguk protein 2|caspase recruitment domain protein 14
CARD-containing MAGUK 2 protein
caspase recruitment domain protein 14
CARD-containing MAGUK 2 protein|CARD-containing MAGUK protein 2|bcl10-interacting maguk protein 2|card-maguk protein 2|carma 2|caspase recruitment domain-containing protein 14
CARD-containing MAGUK protein 2
bcl10-interacting maguk protein 2
caspase recruitment domain-containing protein 14
card-maguk protein 2
hCG_28572
Aliases
PSS1, PSORS2, CARD14, BIMP2, CARMA2, PRP, FLJ38097
Gene CBX2
Pc class homolog|cell division cycle associated 6|chromobox homolog 2 (Pc class homolog, Drosophila)|chromobox protein homolog 2|modifier 3
chromobox homolog 2 (Pc class homolog, Drosophila)
hCG_28569
Pc class homolog
chromobox homolog 2
chromobox protein homolog 2
M33 polycomb-like
cell division cycle associated 6
M33 polycomb-like|cell division cycle associated 6|chromobox protein homolog 2|modifier 3
modifier 3
M33 polycomb-like|cell division cycle associated 6|chromobox homolog 2|modifier 3
Aliases
SRXY5, CDCA6, CBX2, M33, MGC10561
Gene TBC1D16
hCG_28567
TBC1 domain family member 16
Aliases
TBC1D16, MGC25062, FLJ20748
Gene RBFOX3
neuN antigen
neuronal nuclei antigen
OTTHUMP00000196558|RNA binding protein fox-1 homolog 3|fox-1 homolog C|hexaribonucleotide binding protein 3|neuronal nuclei
RNA binding protein fox-1 homolog 3
OTTHUMP00000196558
OTTHUMP00000196558|fox-1 homolog C|neuronal nuclei
neuronal nuclei
fox-1 homolog C
fox-1 homolog C|neuronal nuclei
OTTHUMP00000196558|fox-1 homolog C|hexaribonucleotide binding protein 3|neuronal nuclei
hexaribonucleotide binding protein 3
RNA binding protein, fox-1 homolog (C. elegans) 3
RNA binding protein, fox-1 homolog 3
Aliases
RBFOX3, HRNBP3, FOX3, NEUN, FLJ58356, FLJ56884, FOX-3
Gene RPL32P31
Aliases
RPL32P31, RPL32_21_1577
Gene SLC26A11
hCG_1775993
sodium-independent sulfate anion transporter
OTTHUMP00000164618|sodium-independent sulfate anion transporter
OTTHUMP00000164618
Aliases
MGC46523, SLC26A11
Gene ENDOV
hypothetical protein LOC284131
hCG_2036815
OTTHUMP00000227085|OTTHUMP00000227086|OTTHUMP00000227089|OTTHUMP00000227169|hypothetical protein LOC284131
OTTHUMP00000227085
OTTHUMP00000227086
OTTHUMP00000227169
OTTHUMP00000227089
Aliases
FLJ35220, MGC74455, ENDOV
Gene ENPP7
hCG_2036665
EMBL:AAH41453.2}
ENPP7 {ECO:0000312
alkaline sphingomyelinase
E-NPP 7|NPP-7|alkaline sphingomyelin phosphodiesterase|alkaline sphingomyelinase|ectonucleotide pyrophosphatase/phosphodiesterase family member 7|intestinal alkaline sphingomyelinase
alkaline sphingomyelin phosphodiesterase
ectonucleotide pyrophosphatase/phosphodiesterase family member 7
intestinal alkaline sphingomyelinase
NPP-7
E-NPP 7
Aliases
NPP7, MGC50179, ENPP7, ALK-SMase
Gene RPL31P7
Aliases
RPL31_22_1578, RPL31P7
Gene LOC100294362
Gene MIR1268B
Aliases
MIR1268B
Gene MIR4739
hsa-mir-4739
Aliases
mir-4739, MIR4739
Gene MIR4730
Aliases
MIR4730
Gene LINC02078
CTD-2116F7.1
Aliases
HP09025, LINC02078
Gene LINC01978
Aliases
LINC01978
Gene LINC01979
Aliases
RP11-353N14.5, LINC01979
Gene LOC101928855
Aliases
RP11-28G8.1
Gene LOC101929831
Gene LOC102723961
Gene LINC01977
Aliases
LINC01977
Gene LOC105371921
Gene LOC105371922
Gene LOC107985021
Chromosome
17
Position
80,544,825 - 80,966,373 (421.5K)
Orientation
+
Chromosome
17
Position
79,707,266 - 79,712,317 (5,052bp)
Orientation
+
Chromosome
17
Position
80,602,507 - 80,602,955 (449bp)
Orientation
-
Chromosome
17
Position
79,794,377 - 79,797,116 (2,740bp)
Orientation
-
Chromosome
17
Position
79,932,343 - 80,035,875 (103.5K)
Orientation
-
Chromosome
17
Position
79,089,345 - 79,611,101 (0.5M)
Orientation
-
Chromosome
17
Position
80,098,828 - 80,098,877 (50bp)
Orientation
+
Chromosome
17
Position
79,730,919 - 79,742,926 (12,008bp)
Orientation
+
Chromosome
17
Position
79,776,254 - 79,787,650 (11,397bp)
Orientation
+
Chromosome
17
Position
80,036,632 - 80,100,613 (63,982bp)
Orientation
+
Chromosome
17
Position
80,101,526 - 80,119,882 (18,357bp)
Orientation
+
Chromosome
17
Position
80,542,203 - 80,545,134 (2,932bp)
Orientation
+
Chromosome
17
Position
79,815,943 - 79,823,284 (7,342bp)
Orientation
+
Chromosome
17
Position
80,200,668 - 80,220,400 (19,733bp)
Orientation
-
Chromosome
17
Position
79,707,176 - 79,707,249 (74bp)
Orientation
-
Chromosome
17
Position
80,560,102 - 80,587,441 (27,340bp)
Orientation
-
Chromosome
17
Position
79,833,156 - 79,839,414 (6,259bp)
Orientation
-
Chromosome
17
Position
80,260,820 - 80,398,786 (138K)
Orientation
+
Chromosome
17
Position
79,823,795 - 79,827,704 (3,910bp)
Orientation
+
Chromosome
17
Position
80,885,776 - 80,891,713 (5,938bp)
Orientation
-
Chromosome
17
Position
80,169,992 - 80,209,331 (39,340bp)
Orientation
+
Chromosome
17
Position
79,915,252 - 79,926,725 (11,474bp)
Orientation
-
Chromosome
17
Position
79,919,357 - 79,924,010 (4,654bp)
Orientation
+
Chromosome
17
Position
80,220,287 - 80,253,509 (33,223bp)
Orientation
+
Chromosome
17
Position
80,419,418 - 80,419,493 (76bp)
Orientation
+
Chromosome
17
Position
80,720,259 - 80,730,101 (9,843bp)
Orientation
+
Chromosome
17
Position
80,415,117 - 80,438,086 (22,970bp)
Orientation
+
Chromosome
17
Position
80,351,830 - 80,415,168 (63,339bp)
Orientation
-
Chromosome
17
Position
80,466,833 - 80,476,604 (9,772bp)
Orientation
-
Chromosome
17
Position
80,135,214 - 80,147,183 (11,970bp)
Orientation
-
Chromosome
17
Position
80,801,640 - 80,805,632 (3,993bp)
Orientation
-
Chromosome
17
Position
79,632,713 - 79,659,866 (27,154bp)
Orientation
-
Symbol
RPTOR
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
regulatory associated protein of MTOR complex 1
Symbol
LINC02078
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
long intergenic non-protein coding RNA 2078
Symbol
RPL31P7
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
ribosomal protein L31 pseudogene 7
Symbol
CBX8
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
chromobox 8
Symbol
TBC1D16
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
hCG_28567
Symbol
RBFOX3
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
RNA binding fox-1 homolog 3
Symbol
MIR1268B
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
microRNA 1268b
Symbol
ENPP7
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
ectonucleotide pyrophosphatase/phosphodiesterase 7
Symbol
CBX2
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
chromobox 2
Symbol
CCDC40
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
coiled-coil domain containing 40
Symbol
GAA
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
glucosidase alpha, acid
Symbol
RPL32P31
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
ribosomal protein L32 pseudogene 31
Symbol
LOC102723961
Evidence code
rnaseq
Cytogenetic coordinates
17q25.3
Description
uncharacterized LOC102723961
Symbol
SGSH
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
N-sulfoglucosamine sulfohydrolase
Symbol
MIR4739
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
microRNA 4739
Symbol
LOC105371922
Evidence code
rnaseq
Cytogenetic coordinates
17q25.3
Description
uncharacterized LOC105371922
Symbol
CBX4
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
chromobox 4
Symbol
RNF213
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
ring finger protein 213
Symbol
LINC01977
Evidence code
mRNA
Cytogenetic coordinates
17q25.3
Description
long intergenic non-protein coding RNA 1977
Symbol
LOC105371921
Evidence code
rnaseq
Cytogenetic coordinates
17q25.3
Description
uncharacterized LOC105371921
Symbol
CARD14
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
caspase recruitment domain family member 14
Symbol
LINC01979
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
long intergenic non-protein coding RNA 1979
Symbol
LINC01978
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
long intergenic non-protein coding RNA 1978
Symbol
SLC26A11
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
solute carrier family 26 member 11
Symbol
MIR4730
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
microRNA 4730
Symbol
LOC107985021
Evidence code
mRNA
Cytogenetic coordinates
17q25.3
Description
flocculation protein FLO11-like
Symbol
ENDOV
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
endonuclease V
Symbol
LOC100294362
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
uncharacterized LOC100294362
Symbol
NPTX1
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
neuronal pentraxin 1
Symbol
EIF4A3
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
eukaryotic translation initiation factor 4A3
Symbol
LOC101928855
Evidence code
best RefSeq
Cytogenetic coordinates
17q25.3
Description
uncharacterized LOC101928855
Symbol
LOC101929831
Evidence code
rnaseq
Cytogenetic coordinates
17q25.3
Description
uncharacterized LOC101929831

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