Genomic variant #0000187891

Individual ID 00116648
Chromosome X
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.21886672G>C
DNA change (hg38) g.21868554G>C
Published as -
ISCN -
DB-ID MBTPS2_000030 See all 2 reported entries
Variant remarks Variant absent from 160 control X-chromosomes; cloned in pcDNA3.1; CHO expression, reduced sterol resposiveness
Reference PubMed: Bornholdt 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site PstI
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Karl-Heinz Grzeschik
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
MBTPS2 NM_015884.3 +?/. 6 c.758G>C - r.(?) Gly253Ala



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000117147 DNA PCRdig;SEQ - - MBTPS2 1 Karl-Heinz Grzeschik