Product Details

SNP ID

hCV2228681

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:154546057 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCACCGATGCACCCATGATGATGAA[C/T]ATGTGTGTATCCGACTGATGGAAGG

Phenotype

MIM: 305900 MIM: 300248

Polymorphism

C/T, 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	226	Missense Mutation	ATA,ATG	I63M	NP_000393.4
NM_001042351.2	226	Missense Mutation	ATA,ATG	I33M	NP_001035810.1

Gene

IKBKG

Gene Name

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001099856.4	226	Intron			NP_001093326.2
NM_001099857.2	226	Intron			NP_001093327.1
NM_001145255.2	226	Intron			NP_001138727.1
NM_001321396.1	226	Intron			NP_001308325.1
NM_001321397.1	226	Intron			NP_001308326.1
NM_003639.4	226	Intron			NP_003630.1

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