Good day
We are actively working on SERPINA1 gene and its variants
I would like to know why rs1802963 was G/T in dbSNP 151 and older, and was changed to C/G in dbSNP 153 and dbSNP155 ?
What was the reason supporting the change ?
Was the information in build 151 and older wrong ?
This change has a big implication on the protein, Stop_gained versus missense variant
Thanks for your support
SERPINA1 (NM_000295): stop_gained E (GAA) --> * (TAA)
GENCODE V46 |
SERPINA1 (ENST00000393088.8) |
missense_variant E (GAA) --> Q (CAA) |
Nathalie Gaudreault
Research Professional
Laboratory of Yohan Bossé
Centre de Recherche
Institut universitaire de cardiologie et de pneumologie de Québec (IUCPQ)
2725, chemin Sainte-Foy, Room A-2017
Quebec (Quebec) Canada
G1V 4G5
Tel : 418-656-8711 ext : 3382
nathalie....@criucpq.ulaval.ca
--
---
You received this message because you are subscribed to the Google Groups "UCSC Genome Browser Public Support" group.
To unsubscribe from this group and stop receiving emails from it, send an email to genome+un...@soe.ucsc.edu.
To view this discussion on the web visit https://groups.google.com/a/soe.ucsc.edu/d/msgid/genome/YQXPR01MB5599F2983015E94E60C76A06A4A82%40YQXPR01MB5599.CANPRD01.PROD.OUTLOOK.COM.
Google Scholar | Twitter | Facebook | YouTube