AANAT aralkylamine N-acetyltransferase

Information
Symbol
AANAT
Type
protein-coding
Description
aralkylamine N-acetyltransferase
Entrez Gene ID
15
Genome
hg19
Position
chr17:74,449,433-74,466,199
Genome
hg38
Position
chr17:76,453,351-76,470,117
MIM
600950 OMIM
HGNC
HGNC:19 HGNC
Ensembl
ENSG00000129673 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 6
Likely benign 0 8
Uncertain significance 0 36
Ranking
ClinVar
0
0
0
48
2
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM DSPS
SYNONYM SNAT
MIM 600950 OMIM
HGNC HGNC:19 HGNC
Ensembl ENSG00000129673 Ensembl
AllianceGenome HGNC:19
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000250615.7 hg38 chr17 76,453,351 76,470,117 16,767
ENST00000392492.8 hg38 chr17 76,467,603 76,470,117 2,515
ENST00000250615.7 hg19 chr17 74,449,433 74,466,199 16,767
ENST00000392492.8 hg19 chr17 74,463,685 74,466,199 2,515
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