Product Details

SNP ID

rs137852334

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:154532695 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCACGCGGATCACCAGCTCGTTGC[G/A]CTTGCACTGCTGGTGGAAGATGTCG

Phenotype

MIM: 305900 MIM: 300248

Polymorphism

G/A, 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	1286	Missense Mutation	CGC,TGC	R417C	NP_000393.4
NM_001042351.2	1286	Missense Mutation	CGC,TGC	R387C	NP_001035810.1

Gene

IKBKG

Gene Name

inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma

There are no transcripts associated with this gene.

View Full Product Details