Product Details

SNP ID

rs202122673

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:154532204 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCCTCACCTGCCATAAATATAGG[A/G]GATGGGCTTGGGCTTCTCCAGCTCA

Phenotype

MIM: 305900

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

G6PD PubMed Links

Gene Details

Gene

G6PD

Gene Name

glucose-6-phosphate dehydrogenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000402.4	1568	Missense Mutation	CCC,TCC	P511S	NP_000393.4
NM_001042351.2	1568	Missense Mutation	CCC,TCC	P481S	NP_001035810.1

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