Variant #0000002245 (NC_000002.12:g.27508073T>C, NM_001486.3:c.1337T>C (GCKR))

Individual ID 00000474
Chromosome 2
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.27508073T>C
Published as -
Reference Hwa-Li Tan et al.(2014)
DB-ID GCKR_000002 See all 3 reported entries
dbSNP ID rs1260326
Frequency 54/198
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-03-02 12:40:39 +08:00 (CST)
Date last edited 2021-08-01 13:11:48 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
GCKR NM_001486.3 +/. - c.1337T>C - r.(?) p.(Leu446Pro) -
GCKR XM_011532763.1 ?/. - c.*436T>C - r.(=) p.(=) -
GCKR XM_017003796.1 ?/. - c.767T>C - r.(?) p.(Leu256Pro) -
GCKR XM_017003797.1 ?/. - c.767T>C - r.(?) p.(Leu256Pro) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000520 DNA ? GCKR 2 Nur Aisyah Athirah