Product Details

SNP ID
rs199741621
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:168902472 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATTATTTGGTCATCGACCTTACTG[A/G]TGGGTCCAAGAAACTCAGATTTACC
Phenotype
MIM: 608058
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
G6PC2 PubMed Links

Gene Details

Gene
G6PC2
Gene Name
glucose-6-phosphatase catalytic subunit 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001081686.1 338 Nonsense Mutation TGA,TGG *82W NP_001075155.1
NM_021176.2 338 Nonsense Mutation TGA,TGG *82W NP_066999.1
XM_011511564.2 338 Nonsense Mutation TGA,TGG *82W XP_011509866.1
XM_011511565.2 338 Intron XP_011509867.1

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