AAAS gene homepage

General information
Gene symbol AAAS
Gene name achalasia, adrenocortical insufficiency, alacrimia
Chromosome 12
Chromosomal band q13
Imprinted Unknown
Genomic reference NG_016775.1
Transcript reference NM_001173466.1, NM_015665.5, XM_006719617.2, XM_006719619.2, XM_011538777.1, XM_011538778.1, XM_011538779.1, XM_011538780.1, XM_011538781.1
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 29
Unique public DNA variants reported 29
Individuals with public variants 106
Hidden variants 0
Date created November 25, 2015
Date last updated December 07, 2017
Version AAAS:171207

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 13666
Entrez Gene 8086
PubMed articles AAAS
OMIM - Gene 605378
GeneCards AAAS
GeneTests AAAS

Active transcripts




NCBI ID     

NCBI Protein ID     

00052933 12 transcript variant 2 NM_001173466.1 NP_001166937.1 29
00052934 12 transcript variant 1 NM_015665.5 NP_056480.1 29
00052935 12 transcript variant X3 XM_006719617.2 XP_006719680.1 29
00052936 12 transcript variant X1 XM_011538777.1 XP_011537079.1 29
00052937 12 transcript variant X2 XM_011538778.1 XP_011537080.1 29
00052938 12 transcript variant X4 XM_011538779.1 XP_011537081.1 29
00052939 12 transcript variant X5 XM_011538780.1 XP_011537082.1 29
00052941 12 transcript variant X6 XM_006719619.2 XP_006719682.1 29
00052940 12 transcript variant X7 XM_011538781.1 XP_011537083.1 18

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