Variant #0000442696 (NC_000003.11:g.9726311G>A, MTMR14(NM_001077525.2):c.1007G>A)

Chromosome 3
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.9726311G>A
DNA change (hg38) g.9684627G>A
Published as -
ISCN -
DB-ID MTMR14_000001 See all 2 reported entries
Variant remarks expression cloning; COS-1 cells normal localisation, phosphatase activity 28%
Reference PubMed: Tosch 2006, OMIM:var0001
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site AvaII
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MTMR14 NM_001077525.2 +?/. 11 c.1007G>A r.(?) p.Arg336Gln