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TCTCCTTCTCTCCAGACGAGCGATT[A/G]CCGGTTGAGGAAAAAACGCTTGAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
11 submissions
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Phenotype: |
MIM: 138090 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
H6PD PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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H6PD - hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282587.1 | 2857 | Intron | NP_001269516.1 | |||
NM_004285.3 | 2857 | Intron | NP_004276.2 | |||
XM_005263540.4 | 2857 | UTR 5 | XP_005263597.1 | |||
XM_006711052.3 | 2857 | Intron | XP_006711115.1 | |||
XM_017002865.1 | 2857 | Intron | XP_016858354.1 | |||
XM_017002866.1 | 2857 | Intron | XP_016858355.1 |