Variant #0000821924 (NC_000003.11:g.49760037G>A, GMPPB(NM_021971.2):c.553C>T)

Chromosome 3
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.49760037G>A
DNA change (hg38) g.49722604G>A
Published as -
ISCN -
DB-ID GMPPB_000002 See all 9 reported entries
Variant remarks in vitro expression cloning C2C12 GMPPB normal distribution
Reference PubMed: Carss 2013
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
GMPPB NM_021971.2 -?/. - c.553C>T r.(?) p.Arg185Cys