Variant #0000147250 (NC_000012.11:g.57905819T>C, NM_004990.3:c.1568T>C (MARS))

Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification NA
DNA change (genomic) (Relative to hg19 / GRCh37) g.57905819T>C
DNA change (hg38) g.57512036T>C
Published as -
ISCN -
DB-ID MARS_000004 See all 2 reported entries
Variant remarks cDNA expression cloning in HEK293 cells showed normal protein expression levels but reduced enzyme activity (0.16)
Reference PubMed: van Meel 2013
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 7.0E-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
Date created 2016-12-02 10:18:33 +01:00 (CET)
Date last edited 2020-07-14 21:50:58 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
MARS NM_004990.3 +/. 13 c.1568T>C r.(?) p.Ile523Thr


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