SMN1 c.89A>G ;(p.D30G)

Variant ID: 5-70234673-A-G

NM_000344.3(SMN1):c.89A>G;(p.D30G)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Ndt80 activates the meiotic ORC1 transcript isoform and SMA2 via a bi-directional middle sporulation element in Saccharomyces cerevisiae.

Rna Biology
Xie, Bingning B; Horecka, Joe J; Chu, Angela A; Davis, Ronald W RW; Becker, Emmanuelle E; Primig, Michael M
Publication Date: 2016-09

Variant appearance in text: SMA2: D30G
PubMed Link: 27362276
Variant Present in the following documents:
  • Main text
View BVdb publication page