General information |
Gene name |
jagged 1 (Alagille syndrome) |
Gene symbol |
JAG1 |
Chromosome Location |
20p12.1-p11.23 |
Database location |
https://research.cchmc.org/LOVD2/ |
Curator |
Ammar Husami |
PubMed references |
View all (unique) PubMed references in the JAG1 database |
Date of creation |
April 20, 2010 |
Last update |
April 29, 2010 |
Version |
JAG1 100429 |
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Reference sequence file |
coding DNA reference sequence for describing sequence variants |
Genomic refseq ID |
NG_007496.1 |
Transcript refseq ID |
NM_000214.2 |
Exon/intron information |
Exon/intron information table |
Total number of unique DNA variants reported |
156 |
Total number of individuals with variant(s) |
4 |
Total number of variants reported |
158 |
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