Product Details

SNP ID
rs199836220
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:44074746 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGCCCATAATGACGGCCCTGTCTT[C/T]GCAGGTGGCCACTCGGGCCCGCAGG
Phenotype
MIM: 611045 MIM: 605315 MIM: 611793
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
G6PC3 PubMed Links

Gene Details

Gene
G6PC3
Gene Name
glucose-6-phosphatase catalytic subunit 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319945.1 851 Missense Mutation TCG,TTG S131L NP_001306874.1
NM_138387.3 851 Missense Mutation TCG,TTG S131L NP_612396.1
XM_011525473.2 851 Missense Mutation TCG,TTG S16L XP_011523775.1
XM_011525474.2 851 Missense Mutation TCG,TTG S16L XP_011523776.1
XM_017025335.1 851 Missense Mutation TCG,TTG S16L XP_016880824.1
Gene
HDAC5
Gene Name
histone deacetylase 5
There are no transcripts associated with this gene.

Gene
LSM12
Gene Name
LSM12 homolog
There are no transcripts associated with this gene.

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