Product Details

SNP ID

rs137852321

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:154532694 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCACGCGGATCACCAGCTCGTTG[T/C]GCTTGCACTGCTGGTGGAAGATGTC

Phenotype

MIM: 305900 MIM: 300248

Polymorphism

T/C, 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	1287	Missense Mutation	CAC,CGC	H417R	NP_000393.4
NM_001042351.2	1287	Missense Mutation	CAC,CGC	H387R	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.

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