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SNP ID:
rs1260326
Gene
GCKR
Gene Name
Set Membership:
> HapMap > Validated
Chromosome Location:
Chr.2: 27508073 - 27508073 on Build GRCh38
Polymorphism:
C/T, Transition substitution
Context Sequence [VIC/FAM]:

CACAGCACCGTGGGTCAGACCTTGC[C/T]GGTGAGAGTCCAGCCGTGACAAAGG

Assay ID C___2862880_1_
Size
Availability Made To Order
Catalog # 4351379
Price
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 600842

Literature Links:

 GCKR PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
T (0.29)
(0.71)
Caucasian - Not Available CEPH (CEU)
T (0.42)
(0.58)
EAS
T (0.48)
(0.52)
African American - Not Available YRI (Yoruba)
T (0.10)
(0.90)
SAS
T (0.20)
(0.80)
Japanese
C (0.41)
(0.59)
JPT (Japanese)
C (0.41)
(0.59)
AFR
T (0.09)
(0.91)
Chinese
T (0.33)
(0.67)
CHB (Han Chinese)
C (0.42)
(0.58)
EUR
T (0.41)
(0.59)
AMR
T (0.36)
(0.64)
GCKR - glucokinase (hexokinase 4) regulator
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_001486.3 830 Missense Mutation CCG,CTG P,L 446 NP_001477.2
XM_011532763.1 830 Intron XP_011531065.1
XM_017003796.1 830 Missense Mutation CCG,CTG P,L 256 XP_016859285.1
XM_017003797.1 830 Missense Mutation CCG,CTG P,L 256 XP_016859286.1

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