Product Details

SNP ID

rs143855780

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:168902461 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAATACAGGATATTATTTGGTCAT[C/T]GACCTTACTGGTGGGTCCAAGAAAC

Phenotype

MIM: 608058

Polymorphism

C/T, 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	327	Nonsense Mutation	CGA,TGA	R79*	NP_001075155.1
NM_021176.2	327	Nonsense Mutation	CGA,TGA	R79*	NP_066999.1
XM_011511564.2	327	Nonsense Mutation	CGA,TGA	R79*	XP_011509866.1
XM_011511565.2	327	Intron			XP_011509867.1

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