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SNP ID: rs1050827
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:154546123 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCTCTTCCCGCAGGATCCCGCACAC[G/C]TGGGTCCGGCTCAGGGCCACCTGCT
Phenotype: MIM: 305900 MIM: 300248
Polymorphism: G/C, Transversion 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	160	Missense Mutation	CAC,CAG	H41Q	NP_000393.4
NM_001042351.2	160	Missense Mutation	CAC,CAG	H11Q	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	160	Intron			NP_001093326.2
NM_001099857.2	160	Intron			NP_001093327.1
NM_001145255.2	160	Intron			NP_001138727.1
NM_001321396.1	160	Intron			NP_001308325.1
NM_001321397.1	160	Intron			NP_001308326.1
NM_003639.4	160	Intron			NP_003630.1

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