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SNP ID

hCV27862221

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42904038 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCCTGTAACCTGTGAGACTGGAC[C/T]AGGTAAGCGTCCCAGCCCCTGCAGA

Phenotype

MIM: 613742

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

G6PC PubMed Links

Gene Details

Gene

G6PC

Gene Name

glucose-6-phosphatase catalytic subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000151.3	418	Missense Mutation	CCA,CTA	P113L	NP_000142.2
NM_001270397.1	418	Missense Mutation	CCA,CTA	P113L	NP_001257326.1

Gene

LINC00671

Gene Name

long intergenic non-protein coding RNA 671

There are no transcripts associated with this gene.

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