Variant #0000005875 (NC_000001.10:g.1470752G>A, TMEM240(NM_001114748.1):c.509C>T)

Individual ID 00005889
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.1470752G>A
Reference Delplanque J et al. (2014)
DB-ID TMEM240_000001 See all 2 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner XY Liu
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by XY Liu
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TMEM240 NM_001114748.1 ./. 4 c.509C>T r.(?) p.(Pro170Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000005906 ? ? TMEM240 1 XY Liu