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- SNP ID:
- rs137852317
- Gene
-
G6PDIKBKG - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.X: 154532411 - 154532411 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
CTGCGCACGAAGTGCATCTGGCTCC[C/T]GCAGAAGACGTCCAGGATGAGGCGC
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 305900
MIM: 300248
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Literature Links: |
G6PD PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap |
|---|---|---|
| Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
| G6PD - glucose-6-phosphate dehydrogenase | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000402.4 | 1466 | Missense Mutation | AGG,GGG | R,G 477 | NP_000393.4 | |
| NM_001042351.2 | 1466 | Missense Mutation | AGG,GGG | R,G 447 | NP_001035810.1 | |
| IKBKG - inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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